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Publication Spotlights

October 2023

September 2023

Jayachandra Muppa, MBBS, post-doc is lead author in recent publication featured in Journal of Neurological Sciences

Access to the PubMed list of publications

Total: displaying 15 out of 100 results
  • Debamestrocel multimodal effects on biomarker pathways in amyotrophic lateral sclerosis are linked to clinical outcomes

    Tuesday, April 09, 2024
    Author(s): Stacy R Lindborg,Namita A Goyal,Jonathan Katz,Matthew Burford,Jenny Li,Haggai Kaspi,Natalie Abramov,Bruno Boulanger,James D Berry,Katharine Nicholson,Tahseen Mozaffar,Robert Miller,Liberty Jenkins,Robert H Baloh,Richard Lewis,Nathan P Staff,Margaret Ayo Owegi,Bob Dagher,Netta R Blondheim-Shraga,Yael Gothelf,Yossef S Levy,Ralph Kern,Revital Aricha,Anthony J Windebank,Robert Bowser,Robert H Brown,Merit E Cudkowicz
    Source: Muscle & nerve
    INTRODUCTION/AIMS: Biomarkers have shown promise in amyotrophic lateral sclerosis (ALS) research, but the quest for reliable biomarkers remains active. This study evaluates the effect of debamestrocel on cerebrospinal fluid (CSF) biomarkers, an exploratory endpoint.
  • Exceptionally long-lived nuclear RNAs

    Thursday, April 04, 2024
    Author(s): Jeanne Lawrence,Lisa Hall
    Source: Science (New York, N.Y.)
    RNA labeled in young mice is detected 2 years later in adult mouse brains.
  • Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

    Thursday, March 21, 2024
    Author(s): Salome Funes,Jonathan Jung,Del Hayden Gadd,Michelle Mosqueda,Jianjun Zhong,None Shankaracharya,Matthew Unger,Karly Stallworth,Debra Cameron,Melissa S Rotunno,Pepper Dawes,Megan Fowler-Magaw,Pamela J Keagle,Justin A McDonough,Sivakumar Boopathy,Miguel Sena-Esteves,Jeffrey A Nickerson,Cathleen Lutz,William C Skarnes,Elaine T Lim,Dorothy P Schafer,Francesca Massi,John E Landers,Daryl A Bosco
    Source: Nature communications
    Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be elucidated. To investigate the effect of neurodegenerative disease-linked genes on the intrinsic properties of microglia, we studied microglia-like cells derived from human induced pluripotent stem cells (iPSCs), termed iMGs, harboring mutations in profilin-1 (PFN1) that are causative for amyotrophic lateral sclerosis (ALS). ALS-PFN1 iMGs...
  • Feasibility study of microburst VNS therapy in drug-resistant focal and generalized epilepsy

    Monday, March 18, 2024
    Author(s): Cornelia Drees,Pegah Afra,Ryan Verner,Lesley Kaye,Amy Keith,Mei Jiang,Jerzy P Szaflarski,Kathryn Nichol,Microburst Study Group
    Source: Brain stimulation
    CONCLUSION: Overall, μVNS appears to be safe and potentially a promising therapeutic alternative to traditional VNS. It merits further investigation in randomized controlled trials which will help determine the impact of investigational variables and which patients are most suitable for this novel therapy.
  • Machine Learning and Digital Biomarkers Can Detect Early Stages of Neurodegenerative Diseases

    Wednesday, March 13, 2024
    Author(s): Artur Chudzik,Albert Śledzianowski,Andrzej W Przybyszewski
    Source: Sensors (Basel, Switzerland)
    Neurodegenerative diseases (NDs) such as Alzheimer's Disease (AD) and Parkinson's Disease (PD) are devastating conditions that can develop without noticeable symptoms, causing irreversible damage to neurons before any signs become clinically evident. NDs are a major cause of disability and mortality worldwide. Currently, there are no cures or treatments to halt their progression. Therefore, the development of early detection methods is urgently needed to delay neuronal loss as soon as possible....
  • Emerging Cerebrospinal Fluid Biomarkers of Disease Activity and Progression in Multiple Sclerosis

    Monday, March 11, 2024
    Author(s): Anne H Cross,Jeffrey M Gelfand,Simon Thebault,Jeffrey L Bennett,H Christian von Büdingen,Briana Cameron,Robert Carruthers,Keith Edwards,Robert Fallis,Rachel Gerstein,Paul S Giacomini,Benjamin Greenberg,David A Hafler,Carolina Ionete,Ulrike W Kaunzner,Lay Kodama,Christopher Lock,Erin E Longbrake,Bruno Musch,Gabriel Pardo,Fredrik Piehl,Martin S Weber,Steven Yuen,Tjalf Ziemssen,Gauruv Bose,Mark S Freedman,Veronica G Anania,Akshaya Ramesh,Ryan C Winger,Xiaoming Jia,Ann Herman,Christopher Harp,Amit Bar-Or
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: In this study, activated glial markers (in particular GFAP) and neurofilament heavy chain were associated specifically with nonrelapsing progressive disease outcomes (independent of acute inflammatory activity). Elevated CSF GFAP was associated with long-term MS disease progression.
  • Trisomy silencing by XIST: translational prospects and challenges

    Friday, March 08, 2024
    Author(s): Khusali Gupta,Jan T Czerminski,Jeanne B Lawrence
    Source: Human genetics
    XIST RNA is heavily studied for its role in fundamental epigenetics and X-chromosome inactivation; however, the translational potential of this singular RNA has been much less explored. This article combines elements of a review on XIST biology with our perspective on the translational prospects and challenges of XIST transgenics. We first briefly review aspects of XIST RNA basic biology that are key to its translational relevance, and then discuss recent efforts to develop translational utility...
  • Incidence and clinical outcomes of perforations during mechanical thrombectomy for medium vessel occlusion in acute ischemic stroke: A retrospective, multicenter, and multinational study

    Tuesday, February 27, 2024
    Author(s): Adam A Dmytriw,Basel Musmar,Hamza Salim,Sherief Ghozy,James E Siegler,Hassan Kobeissi,Hamza Shaikh,Jane Khalife,Mohamad Abdalkader,Piers Klein,Thanh N Nguyen,Jeremy J Heit,Robert W Regenhardt,Nicole M Cancelliere,Joshua D Bernstock,Kareem El Naamani,Abdelaziz Amllay,Lukas Meyer,Anne Dusart,Flavio Bellante,Géraud Forestier,Aymeric Rouchaud,Suzana Saleme,Charbel Mounayer,Jens Fiehler,Anna Luisa Kühn,Ajit S Puri,Christian Dyzmann,Peter T Kan,Marco Colasurdo,Gaultier Marnat,Jérôme Berge,Xavier Barreau,Igor Sibon,Simona Nedelcu,Nils Henninger,Thomas R Marotta,Christopher J Stapleton,James D Rabinov,Takahiro Ota,Shogo Dofuku,Leonard Ll Yeo,Benjamin Yq Tan,Anil Gopinathan,Juan Carlos Martinez-Gutierrez,Sergio Salazar-Marioni,Sunil Sheth,Leonardo Renieri,Carolina Capirossi,Ashkan Mowla,Lina Chervak,Achala Vagal,Nimer Adeeb,Hugo H Cuellar-Saenz,Stavropoula I Tjoumakaris,Pascal Jabbour,Priyank Khandelwal,Arundhati Biswas,Frédéric Clarençon,Mahmoud Elhorany,Kevin Premat,Iacopo Valente,Alessandro Pedicelli,João Pedro Filipe,Ricardo Varela,Miguel Quintero-Consuegra,Nestor R Gonzalez,Markus A Möhlenbruch,Jessica Jesser,Vincent Costalat,Adrien Ter Schiphorst,Vivek Yedavalli,Pablo Harker,Yasmin Aziz,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Ramanathan Kadirvel,Monika Killer-Oberpfalzer,Christoph J Griessenauer,Ajith J Thomas,Cheng-Yang Hsieh,David S Liebeskind,Răzvan Alexandru Radu,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Robert Fahed,Charlotte Weyland,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,MAD-MT Consortium
    Source: European stroke journal
    CONCLUSION: This study reveals that while the occurrence of vessel perforation in MT for AIS due to MeVO is relatively rare, it is associated with poor functional outcomes and higher mortality. The findings highlight the need for increased caution and specialized training in performing MT for MeVO. Further prospective research is required for risk mitigation strategies.
  • Evaluating the Clinical Utility of Epstein-Barr Virus Antibodies as Biomarkers in Multiple Sclerosis: A Systematic Review

    Saturday, February 24, 2024
    Author(s): Abigail Bose,Farnaz Khalighinejad,David C Hoaglin,Christopher C Hemond
    Source: Multiple sclerosis and related disorders
    CONCLUSION: Heterogeneous methodology limited generalization and meta-analysis. EBV antibody levels are unlikely to represent prognostic biomarkers in MS. The areas of highest ongoing promise relate to diagnostic exclusion and pharmacodynamic/disease response. Use of EBV antibodies as biomarkers in clinical practice remains additionally limited by lack of methodological precision, reliability, and validation.
  • Chemotherapy-associated hemorrhagic posterior reversible encephalopathy syndrome (PRES) with considerations for circle of Willis variants on cerebral blood flow and autoregulation: A case report

    Friday, February 23, 2024
    Author(s): Bahadar S Srichawla,Kendall Presti,Vincent Kipkorir,Idanis Berrios Morales
    Source: Medicine
    RATIONALE: Hodgkin lymphoma, a lymphatic system cancer, is treated by chemotherapy, radiation therapy, and hematopoietic stem cell transplantation. Posterior reversible encephalopathy syndrome (PRES) is a rare neurotoxic effect associated with several drugs and systemic conditions. This case study emphasizes the potential risks of intensive chemotherapy regimens and postulates the impact of the circle of Willis variants on the heterogeneity of hemispheric lesions in PRES.
  • A Paradox of the Field's Own Success: Unintended Challenges in Bringing Cutting-Edge Science from the Bench to the Market

    Wednesday, February 21, 2024
    Author(s): Nathan Yingling,Miguel Sena-Esteves,Heather L Gray-Edwards
    Source: Human gene therapy
    No abstract
  • Use of the pRESET LITE thrombectomy device in combined approach for medium vessel occlusions: A multicenter evaluation

    Wednesday, February 21, 2024
    Author(s): Maud Wang,Hans Henkes,Sherief Ghozy,James E Siegler,Hamza Shaikh,Jane Khalife,Mohamad Abdalkader,Piers Klein,Thanh N Nguyen,Jeremy J Heit,Ahmad Sweid,Kareem El Naamani,Robert W Regenhardt,Jose Danilo Bengzon Diestro,Nicole M Cancelliere,Abdelaziz Amllay,Lukas Meyer,Anne Dusart,Flavio Bellante,Géraud Forestier,Aymeric Rouchaud,Suzana Saleme,Charbel Mounayer,Jens Fiehler,Anna Luisa Kühn,Ajit S Puri,Christian Dyzmann,Peter T Kan,Marco Colasurdo,Gaultier Marnat,Jérôme Berge,Xavier Barreau,Igor Sibon,Simona Nedelcu,Nils Henninger,Charlotte Weyland,Thomas R Marotta,Christopher J Stapleton,James D Rabinov,Takahiro Ota,Shogo Dofuku,Leonard Ll Yeo,Benjamin Y Q Tan,Juan Carlos Martinez-Gutierrez,Sergio Salazar-Marioni,Sunil Sheth,Leonardo Renieri,Carolina Capirossi,Ashkan Mowla,Stavropoula I Tjoumakaris,Pascal Jabbour,Priyank Khandelwal,Arundhati Biswas,Frédéric Clarençon,Mahmoud Elhorany,Kevin Premat,Iacopo Valente,Alessandro Pedicelli,João Pedro Filipe,Ricardo Varela,Miguel Quintero-Consuegra,Nestor R Gonzalez,Markus A Möhlenbruch,Jessica Jesser,Vincent Costalat,Adrien Ter Schiphorst,Vivek Yedavalli,Pablo Harker,Lina M Chervak,Yasmin Aziz,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Monika Killer-Oberpfalzer,Christoph J Griessenauer,Ajith J Thomas,Cheng-Yang Hsieh,David S Liebeskind,Răzvan Alexandru Radu,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Aman B Patel,Vitor Mendes Pereira,Robert Fahed,Boris Lubicz,Adam A Dmytriw,Adrien Guenego,M.A.D.-M.T. Consortium
    Source: Neuroradiology
    CONCLUSION: Mechanical thrombectomy using the pRESET LITE in a combined approach with an aspiration catheter appears effective for primary medium vessel occlusions across several centers and physicians.
  • Antithrombotic Treatment for Stroke Prevention in Cervical Artery Dissection: The STOP-CAD Study

    Friday, February 09, 2024
    Author(s): Shadi Yaghi,Liqi Shu,Daniel Mandel,Christopher R Leon Guerrero,Nils Henninger,Jayachandra Muppa,Muhammad Affan,Omair Ul Haq Lodhi,Mirjam R Heldner,Kateryna Antonenko,David Seiffge,Marcel Arnold,Setareh Salehi Omran,Ross Crandall,Evan Lester,Diego Lopez Mena,Antonio Arauz,Ahmad Nehme,Marion Boulanger,Emmanuel Touze,Joao Andre Sousa,Joao Sargento-Freitas,Vasco Barata,Paulo Castro-Chaves,Maria Teresa Brito,Muhib Khan,Dania Mallick,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufmann,Stefan T Engelter,Christopher Traenka,Diana Aguiar de Sousa,Mafalda Soares,Sara Rosa,Lily W Zhou,Preet Gandhi,Thalia S Field,Steven Mancini,Issa Metanis,Ronen R Leker,Kelly Pan,Vishnu Dantu,Karl Baumgartner,Tina Burton,Regina Von Rennenberg,Christian H Nolte,Richard Choi,Jason MacDonald,Reza Bavarsad Shahripour,Xiaofan Guo,Malik Ghannam,Mohammad Almajali,Edgar A Samaniego,Sebastian Sanchez,Bastien Rioux,Faycal Zine-Eddine,Alexandre Poppe,Ana Catarina Fonseca,Maria Fortuna Baptista,Diana Cruz,Michele Romoli,Giovanna De Marco,Marco Longoni,Zafer Keser,Kim Griffin,Lindsey Kuohn,Jennifer Frontera,Jordan Amar,James Giles,Marialuisa Zedde,Rosario Pascarella,Ilaria Grisendi,Hipolito Nzwalo,David S Liebeskind,Amir Molaie,Annie Cavalier,Wayneho Kam,Brian Mac Grory,Sami Al Kasab,Mohammad Anadani,Kimberly Kicielinski,Ali Eltatawy,Lina Chervak,Roberto Chulluncuy-Rivas,Yasmin Aziz,Ekaterina Bakradze,Thanh Lam Tran,Marc Rodrigo-Gisbert,Manuel Requena,Faddi Saleh Velez,Jorge Ortiz Gracia,Varsha Mudassani,Adam de Havenon,Venugopalan Y Vishnu,Sridhara Yaddanapudi,Latasha Adams,Abigail Browngoehl,Tamra Ranasinghe,Randy Dunston,Zachary Lynch,Mary Penckofer,James Siegler,Silvia Mayer,Joshua Willey,Adeel Zubair,Yee Kuang Cheng,Richa Sharma,João Pedro Marto,Vítor Mendes Ferreira,Piers Klein,Thanh N Nguyen,Syed Daniyal Asad,Zoha Sarwat,Anvesh Balabhadra,Shivam Patel,Thais Secchi,Sheila Martins,Gabriel Mantovani,Young Dae Kim,Balaji Krishnaiah,Cheran Elangovan,Sivani Lingam,Abid Quereshi,Sebastian Fridman,Alonso Alvarado,Farid Khasiyev,Guillermo Linares,Marina Mannino,Valeria Terruso,Sofia Vassilopoulou,Vasilis Tentolouris,Manuel Martinez-Marino,Victor Carrasco Wall,Fransisca Indraswari,Sleiman El Jamal,Shilin Liu,Muhammad Alvi,Farman Ali,Mohammed Sarvath,Rami Z Morsi,Tareq Kass-Hout,Feina Shi,Jinhua Zhang,Dilraj Sokhi,Jamil Said,Alexis N Simpkins,Roberto Gomez,Shayak Sen,Mohammad Ghani,Marwa Elnazeir,Han Xiao,Narendra Kala,Farhan Khan,Christoph Stretz,Nahid Mohammadzadeh,Eric Goldstein,Karen Furie
    Source: Stroke
    CONCLUSIONS: Our study does not rule out the benefit of anticoagulation in reducing ischemic stroke risk, particularly in patients with occlusive dissection. If anticoagulation is chosen, it seems reasonable to switch to antiplatelet therapy before 180 days to lower the risk of major bleeding. Large prospective studies are needed to validate our findings.
  • Inorganic polyphosphate: from basic research to diagnostic and therapeutic opportunities in ALS/FTD

    Wednesday, February 07, 2024
    Author(s): Polett Garcés,Armando Amaro,Martin Montecino,Brigitte van Zundert
    Source: Biochemical Society transactions
    Inorganic polyphosphate (polyP) is a simple, negatively charged biopolymer with chain lengths ranging from just a few to over a thousand ortho-phosphate (Pi) residues. polyP is detected in every cell type across all organisms in nature thus far analyzed. Despite its structural simplicity, polyP has been shown to play important roles in a remarkably broad spectrum of biological processes, including blood coagulation, bone mineralization and inflammation. Furthermore, polyP has been implicated in...
  • Transcarotid Arterial Revascularization of Symptomatic Internal Carotid Artery Disease: A Systematic Review and Study-Level Meta-Analysis

    Thursday, February 01, 2024
    Author(s): Malik Ghannam,Mohammad AlMajali,Farid Khasiyev,Mahmoud Dibas,Abdullah Al Qudah,Fawaz AlMajali,Dana Ghazaleh,Asghar Shah,Fayez H Fayad,Kareem Joudi,Bashar Zaidat,Christopher A Childs,Bennett R Levy,Yasmeen Abouainain,Denise M D Özdemir-van Brunschot,Liqi Shu,Eric D Goldstein,Ammad A Baig,Hannah Roeder,Nils Henninger,Adam de Havenon,Elad I Levy,Charles Matouk,Colin P Derdeyn,Enrique C Leira,Seemant Chaturvedi,Shadi Yaghi
    Source: Stroke
    CONCLUSIONS: Although CEA has traditionally been considered superior to stenting for symptomatic carotid stenosis, TCAR may have some advantages over CAS. Prospective randomized trials comparing the 3 modalities are needed.
  • Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS

    Tuesday, January 30, 2024
    Author(s): Md Amin Hossain,Richa Sarin,Daniel P Donnelly,Brandon C Miller,Alexandra Weiss,Luke McAlary,Svetlana V Antonyuk,Joseph P Salisbury,Jakal Amin,Jeremy B Conway,Samantha S Watson,Jenifer N Winters,Yu Xu,Novera Alam,Rutali R Brahme,Haneyeh Shahbazian,Durgalakshmi Sivasankar,Swathi Padmakumar,Aziza Sattarova,Aparna C Ponmudiyan,Tanvi Gawde,David E Verrill,Wensheng Yang,Sunanda Kannapadi,Leigh D Plant,Jared R Auclair,Lee Makowski,Gregory A Petsko,Dagmar Ringe,Nathalie Y R Agar,David J Greenblatt,Mary Jo Ondrechen,Yunqiu Chen,Justin J Yerbury,Roman Manetsch,S Samar Hasnain,Robert H Brown,Jeffrey N Agar
    Source: PLoS biology
    Mutations in the gene encoding Cu-Zn superoxide dismutase 1 (SOD1) cause a subset of familial amyotrophic lateral sclerosis (fALS) cases. A shared effect of these mutations is that SOD1, which is normally a stable dimer, dissociates into toxic monomers that seed toxic aggregates. Considerable research effort has been devoted to developing compounds that stabilize the dimer of fALS SOD1 variants, but unfortunately, this has not yet resulted in a treatment. We hypothesized that cyclic...
  • Characterization of cortico-meningeal translocator protein expression in multiple sclerosis

    Tuesday, January 30, 2024
    Author(s): Elena Herranz,Constantina A Treaba,Valeria T Barletta,Ambica Mehndiratta,Russell Ouellette,Jacob A Sloane,Carolina Ionete,Suma Babu,Marina Mastantuono,Stefano Magon,Marco L Loggia,Meena M Makary,Jacob M Hooker,Ciprian Catana,Revere Kinkel,Richard Nicholas,Eric C Klawiter,Roberta Magliozzi,Caterina Mainero
    Source: Brain : a journal of neurology
    Compartmentalized meningeal inflammation is thought to represent one of the key players in the pathogenesis of cortical demyelination in multiple sclerosis. Positron emission tomography targeting the 18 kDa mitochondrial Translocator Protein (TSPO) is a molecular-specific approach to quantify immune cell-mediated density in the cortico-meningeal tissue compartment in vivo. The aim of this study was to characterize cortical and meningeal TSPO expression in a heterogeneous cohort of multiple...
  • Differences in Alu vs L1-rich chromosome bands underpin architectural reorganization of the inactive-X chromosome and SAHFs

    Tuesday, January 23, 2024
    Author(s): Lisa L Hall,Kevin M Creamer,Meg Byron,Jeanne B Lawrence
    Source: bioRxiv : the preprint server for biology
    The linear DNA sequence of mammalian chromosomes is organized in large blocks of DNA with similar sequence properties, producing a pattern of dark and light staining bands on mitotic chromosomes. Cytogenetic banding is essentially invariant between people and cell-types and thus may be assumed unrelated to genome regulation. We investigate whether large blocks of Alu-rich R-bands and L1-rich G-bands provide a framework upon which functional genome architecture is built. We examine two models of...
  • PAD2 dysregulation and aberrant protein citrullination feature prominently in reactive astrogliosis and myelin protein aggregation in sporadic ALS

    Monday, January 22, 2024
    Author(s): Issa O Yusuf,Sepideh Parsi,Lyle W Ostrow,Robert H Brown,Paul R Thompson,Zuoshang Xu
    Source: Neurobiology of disease
    Alteration in protein citrullination (PC), a common posttranslational modification (PTM), contributes to pathogenesis in various inflammatory disorders. We previously reported that PC and protein arginine deiminase 2 (PAD2), the predominant enzyme isoform that catalyzes this PTM in the central nervous system (CNS), are altered in mouse models of amyotrophic lateral sclerosis (ALS). We now demonstrate that PAD2 expression and PC are altered in human postmortem ALS spinal cord and motor cortex...
  • Is catheter ablation associated with preservation of cognitive function? An analysis from the SAGE-AF observational cohort study

    Monday, January 22, 2024
    Author(s): Bahadar S Srichawla,Alexander P Hamel,Philip Cook,Rozaleen Aleyadeh,Darleen Lessard,Edith M Otabil,Jordy Mehawej,Jane S Saczynski,David D McManus,Majaz Moonis
    Source: Frontiers in neurology
    CONCLUSION: In this 2-year longitudinal prospective cohort study participants who underwent CA for AF before enrollment were less likely to have cognitive impairment than those who had not undergone CA.
  • Imaging chronic active lesions in multiple sclerosis: a consensus statement

    Tuesday, January 16, 2024
    Author(s): Francesca Bagnato,Pascal Sati,Christopher C Hemond,Colm Elliott,Susan A Gauthier,Daniel M Harrison,Caterina Mainero,Jiwon Oh,David Pitt,Russell T Shinohara,Seth A Smith,Bruce Trapp,Christina J Azevedo,Peter A Calabresi,Roland G Henry,Cornelia Laule,Daniel Ontaneda,William D Rooney,Nancy L Sicotte,Daniel S Reich,Martina Absinta
    Source: Brain : a journal of neurology
    Chronic active lesions (CAL) are an important manifestation of chronic inflammation in multiple sclerosis (MS) and have implications for non-relapsing biological progression. In recent years, the discovery of innovative magnetic resonance imaging (MRI) and PET derived biomarkers has made it possible to detect CAL, and to some extent quantify them, in the brain of persons with MS, in vivo. Paramagnetic rim lesions on susceptibility-sensitive MRI sequences, MRI-defined slowly expanding lesions on...
  • Genetic ablation of Sarm1 attenuates expression and mislocalization of phosphorylated TDP-43 after mouse repetitive traumatic brain injury

    Thursday, December 21, 2023
    Author(s): Elif O Dogan,James Bouley,Jianjun Zhong,Ashley L Harkins,Allison M Keeler,Daryl A Bosco,Robert H Brown,Nils Henninger
    Source: Acta neuropathologica communications
    Traumatic brain injury (TBI), particularly when moderate-to-severe and repetitive, is a strong environmental risk factor for several progressive neurodegenerative disorders. Mislocalization and deposition of transactive response DNA binding protein 43 (TDP-43) has been reported in both TBI and TBI-associated neurodegenerative diseases. It has been hypothesized that axonal pathology, an early event after TBI, may promote TDP-43 dysregulation and serve as a trigger for neurodegenerative processes....
  • Endovascular therapy versus medical management for mild strokes due to medium and distal vessel occlusions

    Monday, December 18, 2023
    Author(s): Simona Nedelcu,Akanksha Gulati,Nils Henninger
    Source: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
    CONCLUSIONS: We found that among DMVO patients with low admission NIHSS treatment with EVT versus BMT was associated with similar outcomes. Larger prospective studies are required to confirm these findings.
  • Is Catheter Ablation Associated with Preservation of Cognitive Function? An Analysis From the SAGE-AF Observational Cohort Study

    Monday, December 04, 2023
    Author(s): Bahadar S Srichawla,Alexander P Hamel,Philip Cook,Rozaleen Aleyadeh,Darleen Lessard,Edith M Otabil,Jordy Mehawej,Jane S Saczynski,David D McManus,Majaz Moonis
    Source: medRxiv : the preprint server for health sciences
    CONCLUSIONS: In this two-year longitudinal prospective cohort study participants who underwent CA for AF before enrollment were less likely to have cognitive impairment than those who had not undergone CA.
  • An Adjustable Magnetic Levator Prosthesis for Customizable Eyelid Reanimation in Severe Blepharoptosis II: Randomized Evaluation of Angular Translation

    Friday, December 01, 2023
    Author(s): Pooyan Tirandazi,Melanie Nadeau,Russell L Woods,Eleftherios I Paschalis,Kevin E Houston
    Source: Translational vision science & technology
    CONCLUSIONS: Angular translation provided adjustable force, which had a statistically and clinically meaningful impact on eye opening and the completeness of the spontaneous blink. This quantitative evidence supports continued use of the angular translation mechanism for force adjustment in the customizable magnetic correction of severe blepharoptosis.
  • Cyclonite-Induced Seizures After Voluntary C-4 Ingestion

    Wednesday, November 29, 2023
    Author(s): Ton Fang,Paramesh V Karandikar,Taylor R Young,Raffaella P Umeton
    Source: Cureus
    Cyclonite (cyclotrimethylenetrinitramine, RDX, hexogen) is the active agent in the plastic explosive, composition 4 (C-4). It has been used globally since the Vietnam War for both military and civilian applications due to its metastable nature. Ingestion or inhalation of C-4 can cause euphoric effects such as those commonly seen with alcohol toxicity, in addition to seizures and rarely fulminant liver and kidney failure. We report the case of a patient who ingested 75 g of C-4 and presented with...
  • WarpDrive: Improving spatial normalization using manual refinements

    Sunday, November 26, 2023
    Author(s): Simón Oxenford,Ana Sofía Ríos,Barbara Hollunder,Clemens Neudorfer,Alexandre Boutet,Gavin J B Elias,Jurgen Germann,Aaron Loh,Wissam Deeb,Bryan Salvato,Leonardo Almeida,Kelly D Foote,Robert Amaral,Paul B Rosenberg,David F Tang-Wai,David A Wolk,Anna D Burke,Marwan N Sabbagh,Stephen Salloway,M Mallar Chakravarty,Gwenn S Smith,Constantine G Lyketsos,Michael S Okun,William S Anderson,Zoltan Mari,Francisco A Ponce,Andres Lozano,Wolf-Julian Neumann,Bassam Al-Fatly,Andreas Horn
    Source: Medical image analysis
    Spatial normalization-the process of mapping subject brain images to an average template brain-has evolved over the last 20+ years into a reliable method that facilitates the comparison of brain imaging results across patients, centers & modalities. While overall successful, sometimes, this automatic process yields suboptimal results, especially when dealing with brains with extensive neurodegeneration and atrophy patterns, or when high accuracy in specific regions is needed. Here we introduce...
  • c-Abl Phosphorylates MFN2 to Regulate Mitochondrial Morphology in Cells under Endoplasmic Reticulum and Oxidative Stress, Impacting Cell Survival and Neurodegeneration

    Saturday, November 25, 2023
    Author(s): Alexis Martinez,Cristian M Lamaizon,Cristian Valls,Fabien Llambi,Nancy Leal,Patrick Fitzgerald,Cliff Guy,Marcin M Kamiński,Nibaldo C Inestrosa,Brigitte van Zundert,Gonzalo I Cancino,Andrés E Dulcey,Silvana Zanlungo,Juan J Marugan,Claudio Hetz,Douglas R Green,Alejandra R Alvarez
    Source: Antioxidants (Basel, Switzerland)
    The endoplasmic reticulum is a subcellular organelle key in the control of synthesis, folding, and sorting of proteins. Under endoplasmic reticulum stress, an adaptative unfolded protein response is activated; however, if this activation is prolonged, cells can undergo cell death, in part due to oxidative stress and mitochondrial fragmentation. Here, we report that endoplasmic reticulum stress activates c-Abl tyrosine kinase, inducing its translocation to mitochondria. We found that endoplasmic...
  • Gaze Scanning at Street Crossings by Pedestrians With Homonymous Hemianopia With and Without Hemispatial Neglect

    Friday, November 17, 2023
    Author(s): Shrinivas Pundlik,Matteo Tomasi,Kevin E Houston,Ayush Kumar,Prerana Shivshanker,Alex R Bowers,Eli Peli,Gang Luo
    Source: Investigative ophthalmology & visual science
    CONCLUSIONS: All groups demonstrated compensatory scanning, making more gaze scans with larger magnitudes to the blind side. Mild to moderate LHSN adversely impacted the scanning rate.
  • Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

    Thursday, November 16, 2023
    Author(s): Justin Cohen,Shushu Huang,Katherine E Koczwara,Kristen T Woods,Vincent Ho,Keryn G Woodman,Jack L Arbiser,Katelyn Daman,Monkol Lek,Charles P Emerson,Alec M DeSimone
    Source: Cell death & disease
    Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability. Genetically, FSHD is linked to the contraction and/or epigenetic de-repression of the D4Z4 repeat array on chromosome 4, thereby allowing expression of the DUX4 gene in skeletal muscle. If the DUX4 transcript incorporates a stabilizing polyadenylation site the myotoxic DUX4 protein will be synthesized, resulting in...
  • Guidelines for neuroprognostication in adults with traumatic spinal cord injury

    Monday, November 13, 2023
    Author(s): Dea Mahanes,Susanne Muehlschlegel,Katja E Wartenberg,Venkatakrishna Rajajee,Sheila A Alexander,Katharina M Busl,Claire J Creutzfeldt,Gabriel V Fontaine,Sara E Hocker,David Y Hwang,Keri S Kim,Dominik Madzar,Shraddha Mainali,Juergen Meixensberger,Panayiotis N Varelas,Christian Weimar,Thomas Westermaier,Oliver W Sakowitz
    Source: Neurocritical care
    CONCLUSIONS: These guidelines provide recommendations about the reliability of acute-phase predictors of mortality, functional outcome, American Spinal Injury Association Impairment Scale grade conversion, and recovery of independent ambulation for consideration when counseling patients with tSCI or their surrogates and suggest broad principles of neuroprognostication in this context.
  • Implementing Shared Decision-Making for Multiple Sclerosis: The MS-SUPPORT Tool

    Monday, November 06, 2023
    Author(s): Nananda F Col,Andrew J Solomon,Enrique Alvarez,Lori Pbert,Carolina Ionete,Idanis BerriosMorales,Jennifer Chester,Christen Kutz,Crystal Iwuchukwu,Terrie Livingston,Vicky Springmann,Hannah V Col,Long H Ngo
    Source: Multiple sclerosis and related disorders
    CONCLUSIONS: MS-SUPPORT was strongly endorsed by patients and is feasible to use in clinical settings. MS-SUPPORT increased the short-term probability of taking and adhering to a DMT, and improved long-term mental health. Study limitations include selection bias, response bias, social desirability bias, and recall bias. Exploring approaches to reinforcement and monitoring its implementation in real-world settings should provide further insights into the value and utility of this new SDM tool.
  • A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics

    Sunday, October 29, 2023
    Author(s): Amy E Campbell,Jamshid Arjomand,Oliver D King,Rabi Tawil,Sujatha Jagannathan
    Source: Journal of neuromuscular diseases
    CONCLUSIONS: ALPP, as measured with the Olink Proteomics platform, is not a promising FSHD serum biomarker candidate but could be utilized to evaluate DUX4 activity in discovery research efforts.
  • First pass effect as an independent predictor of functional outcomes in medium vessel occlusions: An analysis of an international multicenter study

    Friday, October 27, 2023
    Author(s): Răzvan Alexandru Radu,Vincent Costalat,Robert Fahed,Sherief Ghozy,James E Siegler,Hamza Shaikh,Jane Khalife,Mohamad Abdalkader,Piers Klein,Thanh N Nguyen,Jeremy J Heit,Ahmad Sweid,Kareem El Naamani,Robert W Regenhardt,Jose Danilo Bengzon Diestro,Nicole M Cancelliere,Abdelaziz Amllay,Lukas Meyer,Anne Dusart,Flavio Bellante,Géraud Forestier,Aymeric Rouchaud,Suzana Saleme,Charbel Mounayer,Jens Fiehler,Anna Luisa Kühn,Ajit S Puri,Christian Dyzmann,Peter T Kan,Marco Colasurdo,Gaultier Marnat,Jérôme Berge,Xavier Barreau,Igor Sibon,Simona Nedelcu,Nils Henninger,Maéva Kyheng,Thomas R Marotta,Christopher J Stapleton,James D Rabinov,Takahiro Ota,Shogo Dofuku,Leonard Ll Yeo,Benjamin Yq Tan,Juan Carlos Martinez-Gutierrez,Sergio Salazar-Marioni,Sunil Sheth,Leonardo Renieri,Carolina Capirossi,Ashkan Mowla,Stavropoula I Tjoumakaris,Pascal Jabbour,Priyank Khandelwal,Arundhati Biswas,Frédéric Clarençon,Mahmoud Elhorany,Kevin Premat,Iacopo Valente,Alessandro Pedicelli,João Pedro Filipe,Ricardo Varela,Miguel Quintero-Consuegra,Nestor R Gonzalez,Markus A Möhlenbruch,Jessica Jesser,Illario Tancredi,Adrien Ter Schiphorst,Vivek Yedavalli,Pablo Harker,Lina M Chervak,Yasmin Aziz,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Monika Killer-Oberpfalzer,Christoph J Griessenauer,Ajith J Thomas,Cheng-Yang Hsieh,David S Liebeskind,Andrea M Alexandre,Tobias D Faizy,Charlotte Weyland,Aman B Patel,Vitor Mendes Pereira,Boris Lubicz,Adam A Dmytriw,Adrien Guenego
    Source: European stroke journal
    CONCLUSION: Over 2/3 of patients with MeVOs and FPE in our cohort had a favorable outcome at 90 days. FPE is independently associated with favorable outcomes, it may reduce the risk of any intracranial hemorrhage, and 3-month mortality.
  • Prevalence and predictors of shared decision-making in goals-of-care clinician-family meetings for critically ill neurologic patients: a multi-center mixed-methods study

    Saturday, October 21, 2023
    Author(s): Victoria Fleming,Abhinav Prasad,Connie Ge,Sybil Crawford,Shazeb Meraj,Catherine L Hough,Bernard Lo,Shannon S Carson,Jay Steingrub,Douglas B White,Susanne Muehlschlegel
    Source: Critical care (London, England)
    CONCLUSION: Fewer than 1 in 10 goals-of-care clinician-family meetings for critically ill neurological patients contained all shared decision-making elements. Our findings highlight gaps in shared decision-making. Interventions promoting shared decision-making for high-stakes decisions in these patients may increase patient-value congruent care; future studies should also examine whether they will affect decision quality and surrogates' health outcomes.
  • Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis

    Wednesday, October 18, 2023
    Author(s): Minggang Fang,Sara K Deibler,Alissa L Nana,Sarat C Vatsavayai,Shahid Banday,You Zhou,Sandra Almeida,Alexandra Weiss,Robert H Brown,William W Seeley,Fen-Biao Gao,Michael R Green
    Source: Frontiers in neuroscience
    A common pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the cytoplasmic mislocalization and aggregation of the DNA/RNA-binding protein TDP-43, but how loss of nuclear TDP-43 function contributes to ALS and FTD pathogenesis remains largely unknown. Here, using large-scale RNAi screening, we identify TARDBP, which encodes TDP-43, as a gene whose loss-of-function results in elevated DNA mutation rate and genomic instability. Consistent with this...
  • Successful Mechanical Thrombectomy of Bilateral Middle Cerebral Artery Occlusions Following Apixaban Discontinuation

    Monday, October 16, 2023
    Author(s): Bahadar S Srichawla,Ton Fang,Abigail Bose,Vincent Kipkorir,Annie Ferris
    Source: Journal of investigative medicine high impact case reports
    Optimal anticoagulation management in patients with atrial fibrillation (AF) during acute ischemic stroke is complex and often poses a significant clinical challenge. An 82-year-old man with AF presented with left-sided hemiparesis and hypoesthesia due to occlusion of the right middle cerebral artery (MCA) after discontinuing apixaban for 5 days. Successful mechanical thrombectomy (MT) achieved thrombolysis in cerebral infarction (TICI) score of 2C. Anticoagulation was postponed due to a small...
  • Delayed Diagnosis in Cerebral Venous Thrombosis: Associated Factors and Clinical Outcomes

    Wednesday, September 27, 2023
    Author(s): Ekaterina Bakradze,Liqi Shu,Nils Henninger,Shyam Prabhakaran,James E Siegler,Gian Marco De Marchis,James A Giles,Tolga Dittrich,Mirjam R Heldner,Kateryna Antonenko,Wayneho Kam,David S Liebeskind,Alexis N Simpkins,Thanh N Nguyen,Shadi Yaghi,Ava L Liberman
    Source: Journal of the American Heart Association
    Background Identifying factors associated with delayed diagnosis of cerebral venous thrombosis (CVT) can inform future strategies for early detection. Methods and Results We conducted a retrospective cohort study including all participants from ACTION-CVT (Anticoagulation in the Treatment of Cerebral Venous Thrombosis) study who had dates of neurologic symptom onset and CVT diagnosis available. Delayed diagnosis was defined as CVT diagnosis occurring in the fourth (final) quartile of days from...
  • Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo

    Tuesday, September 26, 2023
    Author(s): Gabriela Toro Cabrera,Katharina E Meijboom,Abbas Abdallah,Helene Tran,Zachariah Foster,Alexandra Weiss,Nicholas Wightman,Rachel Stock,Tania Gendron,Alisha Gruntman,Anthony Giampetruzzi,Leonard Petrucelli,Robert H Brown,Christian Mueller
    Source: Gene therapy
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and respiratory failure. The presence of an expanded hexanucleotide repeat in chromosome 9 open reading frame 72 (C9ORF72) is the most frequent mutation causing familial ALS and frontotemporal dementia (FTD). To determine if suppressing expression of C9ORF72 gene products can reduce toxicity, we designed a set of artificial microRNAs (amiRNA) targeting the...
  • Reliable multiplex generation of pooled induced pluripotent stem cells

    Tuesday, September 26, 2023
    Author(s): Molly Smullen,Meagan N Olson,Julia M Reichert,Pepper Dawes,Liam F Murray,Christina E Baer,Qi Wang,Benjamin Readhead,George M Church,Elaine T Lim,Yingleong Chan
    Source: Cell reports methods
    Reprogramming somatic cells into pluripotent stem cells (iPSCs) enables the study of systems in vitro. To increase the throughput of reprogramming, we present induction of pluripotency from pooled cells (iPPC)-an efficient, scalable, and reliable reprogramming procedure. Using our deconvolution algorithm that employs pooled sequencing of single-nucleotide polymorphisms (SNPs), we accurately estimated individual donor proportions of the pooled iPSCs. With iPPC, we concurrently reprogrammed over...
  • Author Correction: Guidelines for Neuroprognostication in Adults with Guillain-Barré Syndrome

    Tuesday, September 19, 2023
    Author(s): Katharina M Busl,Herbert Fried,Susanne Muehlschlegel,Katja E Wartenberg,Venkatakrishna Rajajee,Sheila A Alexander,Claire J Creutzfeldt,Gabriel V Fontaine,Sara E Hocker,David Y Hwang,Keri S Kim,Dominik Madzar,Dea Mahanes,Shraddha Mainali,Juergen Meixensberger,Oliver W Sakowitz,Panayiotis N Varelas,Thomas Westermaier,Christian Weimar
    Source: Neurocritical care
    No abstract
  • Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Goals-of-Care and Family/Surrogate Decision-Maker Data

    Wednesday, September 13, 2023
    Author(s): Matthew N Jaffa,Hannah L Kirsch,Claire J Creutzfeldt,Mary Guanci,David Y Hwang,Darlene LeTavec,Dea Mahanes,Girija Natarajan,Alexis Steinberg,Darin B Zahuranec,Susanne Muehlschlegel,Curing Coma Campaign Collaborators
    Source: Neurocritical care
    CONCLUSIONS: Our findings provide valuable CDEs specific to goals-of-care decisions and family/surrogate decision-making for patients with DoC that can be used to standardize studies to generate high-quality and reproducible research in this area.
  • Small vessel disease is associated with later onset of major adverse cardiovascular events after acute cervicocerebral artery dissection

    Wednesday, September 13, 2023
    Author(s): Jayachandra Muppa,Muhammed E Gunduz,Rozaleen Aleyadeh,Shadi Yaghi,Liqi Shu,Nils Henninger
    Source: Journal of the neurological sciences
    CONCLUSION: Severe CSVD burden was associated with a significantly greater risk of late MACE. CSVD assessment in CAD patients may aid risk stratification and treatment optimization.
  • Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons

    Thursday, September 07, 2023
    Author(s): Yoshifumi Sonobe,Soojin Lee,Gopinath Krishnan,Yuanzheng Gu,Deborah Y Kwon,Fen-Biao Gao,Raymond P Roos,Paschalis Kratsios
    Source: eLife
    A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) proteins, produced from both sense GGGGCC (poly-GA, poly-GP, poly-GR) and antisense CCCCGG (poly-PR, poly-PG, poly-PA) transcripts. Translation of sense DPRs, such as poly-GA and poly-GR, depends on non-canonical (non-AUG) initiation codons. Here, we provide evidence for...
  • Mature iPSC-derived astrocytes of an ALS/FTD patient carrying the TDP43A90V mutation display a mild reactive state and release polyP toxic to motoneurons

    Wednesday, August 30, 2023
    Author(s): Fabiola Rojas,Rodrigo Aguilar,Sandra Almeida,Elsa Fritz,Daniela Corvalán,Estibaliz Ampuero,Sebastián Abarzúa,Polett Garcés,Armando Amaro,Iván Diaz,Cristian Arredondo,Nicole Cortes,Mario Sanchez,Constanza Mercado,Lorena Varela-Nallar,Fen-Biao Gao,Martin Montecino,Brigitte van Zundert
    Source: Frontiers in cell and developmental biology
    Astrocytes play a critical role in the maintenance of a healthy central nervous system and astrocyte dysfunction has been implicated in various neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). There is compelling evidence that mouse and human ALS and ALS/FTD astrocytes can reduce the number of healthy wild-type motoneurons (MNs) in co-cultures or after treatment with astrocyte conditioned media (ACM), independently of their genotype. A...
  • Amyotrophic lateral sclerosis

    Thursday, August 24, 2023
    Author(s): David S Younger,Robert H Brown
    Source: Handbook of clinical neurology
    The scientific landscape surrounding amyotrophic lateral sclerosis has shifted immensely with a number of well-defined ALS disease-causing genes, each with related phenotypical and cellular motor neuron processes that have come to light. Yet in spite of decades of research and clinical investigation, there is still no etiology for sporadic amyotrophic lateral sclerosis, and treatment options even for those with well-defined familial syndromes are still limited. This chapter provides a...
  • Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import

    Wednesday, August 16, 2023
    Author(s): Jacob R Mann,Elizabeth D McKenna,Darilang Mawrie,Vasileios Papakis,Francesco Alessandrini,Eric N Anderson,Ryan Mayers,Hannah E Ball,Evan Kaspi,Katherine Lubinski,Desiree M Baron,Liana Tellez,John E Landers,Udai B Pandey,Evangelos Kiskinis
    Source: Science advances
    Loss-of-function variants in NIMA-related kinase 1 (NEK1) constitute a major genetic cause of amyotrophic lateral sclerosis (ALS), accounting for 2 to 3% of all cases. However, how NEK1 mutations cause motor neuron (MN) dysfunction is unknown. Using mass spectrometry analyses for NEK1 interactors and NEK1-dependent expression changes, we find functional enrichment for proteins involved in the microtubule cytoskeleton and nucleocytoplasmic transport. We show that α-tubulin and importin-β1, two...
  • An Adjustable Magnetic Levator Prosthesis for Customizable Eyelid Re-Animation in Severe Blepharoptosis: Design and Proof-of-Concept

    Friday, August 11, 2023
    Author(s): Nish Mohith Kurukuti,Melanie Nadeau,Eleftherios I Paschalis,Kevin E Houston
    Source: Translational vision science & technology
    CONCLUSIONS: Preliminary results suggest that the an aMLP can correct ptosis without adversely affecting blink function. Further evaluation in a larger patient population is warranted.
  • Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice

    Tuesday, August 01, 2023
    Author(s): Aydan Kahriman,James Bouley,Idil Tuncali,Elif O Dogan,Mariana Pereira,Thuyvan Luu,Daryl A Bosco,Samer Jaber,Owen M Peters,Robert H Brown,Nils Henninger
    Source: Brain : a journal of neurology
    Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases that represent ends of the spectrum of a single disease. The most common genetic cause of FTD and ALS is a hexanucleotide repeat expansion in the C9orf72 gene. Although epidemiological data suggest that traumatic brain injury (TBI) represents a risk factor for FTD and ALS, its role in exacerbating disease onset and course remains unclear. To explore the interplay between traumatic brain...
  • Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy

    Tuesday, August 01, 2023
    Author(s): Aime K Johnson,Victoria J McCurdy,Heather L Gray-Edwards,Anne S Maguire,J Nicholas Cochran,Amanda L Gross,Haleigh E Skinner,Ashley N Randle,Jamie L Shirley,Brandon L Brunson,Allison M Bradbury,Stanley G Leroy,Misako Hwang,Hannah E Rockwell,Nancy R Cox,Henry J Baker,Thomas N Seyfried,Miguel Sena-Esteves,Douglas R Martin
    Source: Annals of neurology
    OBJECTIVE: GM2 gangliosidosis is usually fatal by 5 years of age in its 2 major subtypes, Tay-Sachs and Sandhoff disease. First reported in 1881, GM2 gangliosidosis has no effective treatment today, and children succumb to the disease after a protracted neurodegenerative course and semi-vegetative state. This study seeks to further develop adeno-associated virus (AAV) gene therapy for human translation.
  • Thematic Analysis of Psychosocial Stressors and Adaptive Coping Strategies Among Informal Caregivers of Patients Surviving ICU Admission for Coma

    Monday, July 31, 2023
    Author(s): David Y Hwang,Sarah M Bannon,Kate Meurer,Rina Kubota,Nithyashri Baskaran,Jisoo Kim,Qiang Zhang,Mira Reichman,Nathan S Fishbein,Kaitlyn Lichstein,Melissa Motta,Susanne Muehlschlegel,Michael E Reznik,Matthew N Jaffa,Claire J Creutzfeldt,Corey R Fehnel,Amanda D Tomlinson,Craig A Williamson,Ana-Maria Vranceanu,COMA-F Investigators
    Source: Neurocritical care
    CONCLUSIONS: In response to substantial stressors, family caregivers of patients with SABI attempted to enact various psychological and behavioral coping strategies. They described avoidance and distraction as less helpful than other coping strategies but had difficulty engaging in alternative strategies because of their emotional distress. These findings can directly inform the development of additional resources to mitigate the long-term impact of acute psychological distress among this...
  • Voice Acoustic Instability During Spontaneous Speech in Parkinson's Disease

    Thursday, July 27, 2023
    Author(s): Kara M Smith,Meaghan Demers-Peel,Christina Manxhari,Cara E Stepp
    Source: Journal of voice : official journal of the Voice Foundation
    CONCLUSIONS: Mean and STSD f(o) as well as CPPS may be sensitive to PD-MCI status in reading and spontaneous speech tasks. Speech motor instability can be observed in these voice acoustic parameters over brief speech tasks, but the degree of decline does not depend on cognitive status. These findings will inform the ongoing development of algorithms to monitor speech and cognitive function in PD.
  • Editorial for the Neurogenetics and Neurogenomics special issue

    Thursday, July 20, 2023
    Author(s): Elaine T Lim,Yingleong Chan
    Source: Human genetics
    No abstract
  • Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Goals-of-care and Family/Surrogate Decision-Maker Data

    Tuesday, July 18, 2023
    Author(s): Matthew N Jaffa,Hannah L Kirsch,Claire J Creutzfeldt,Mary Guanci,David Y Hwang,Darlene LeTavec,Dea Mahanes,Alexis Steinberg,Girija Natarajan,Darin B Zahuranec,Susanne Muehlschlegel
    Source: Research square
    CONCLUSIONS: Our findings provide valuable CDEs specific to goals-of-care decisions and family/surrogate decision-making for patients with DoC that can be used to standardize studies to generate high-quality and reproducible research in this area.
  • Improving Access to Specialist Palliative Care for Patients With Catastrophic Strokes Using Best Practice Advisory- a Feasibility Study

    Thursday, July 13, 2023
    Author(s): Vandana Nagpal,Marcey L Osgood,Jennifer Reidy,Rose Healy,Brian Silver
    Source: The Neurohospitalist
    BACKGROUND AND PURPOSE: The American Heart Association and American Stroke Association (AHA/ASA) strongly recommend specialty palliative care (PC) for all patients hospitalized with life-threatening or life-altering strokes to provide expert symptom management, improve communication, promote shared decision-making and relieve suffering. We piloted an intervention to remind physicians about high PC needs of their patients admitted with catastrophic stroke.
  • Craniocervical junction intradural extramedullary meningioma with cord compression

    Wednesday, July 12, 2023
    Author(s): Bahadar S Srichawla,Hande Can,Wissam Deeb
    Source: BMJ case reports
    Craniocervical spine meningiomas are rare. They often present with non-specific motor or sensory symptoms. Presenting symptoms can include gait ataxia, radiculopathy, myelopathy, back pain and sensory deficits. Spinal meningiomas are slow-growing tumours, with an insidious onset. Due to the critical location of craniocervical meningiomas, severe symptoms such as respiratory distress and quadriparesis are possible. We describe the clinical presentation of a craniocervical junction meningioma, its...
  • Outcomes of Telestroke Inter-Hospital Transfers Among Intervention and Non-Intervention Patients

    Wednesday, July 12, 2023
    Author(s): Adalia H Jun-O'Connell,Shravan Sivakumar,Nils Henninger,Brian Silver,Meghna Trivedi,Mehdi Ghasemi,Rakhee R Lalla,Kimiyoshi J Kobayashi
    Source: Journal of clinical medicine research
    CONCLUSIONS: Telestroke is a valuable resource that expedites emergent neurological care via referral to a stroke center. However, not all transferred patients benefit from the transfer process. Future multicenter studies are warranted to study the effects or appropriateness of telestroke networks, and to better understand the patient characteristics, resources allocation, and transferring institutions to improve telestroke care.
  • Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin

    Wednesday, July 12, 2023
    Author(s): Tatiana Fontelonga,Arielle J Hall,Jaedon L Brown,Youngsook L Jung,Matthew S Alexander,Janice A Dominov,Vincent Mouly,Natassia Vieira,Mayana Zatz,Mariz Vainzof,Emanuela Gussoni
    Source: Advanced biology
    Tetraspanins organize protein complexes at the cell membrane and are responsible for assembling diverse binding partners in changing cellular states. Tetraspanin CD82 is a useful cell surface marker for prospective isolation of human myogenic progenitors and its expression is decreased in Duchenne muscular dystrophy (DMD) cell lines. The function of CD82 in skeletal muscle remains elusive, partly because the binding partners of this tetraspanin in muscle cells have not been identified....
  • Neurological diseases in intensive care

    Monday, July 10, 2023
    Author(s): Virginia Newcombe,Susanne Muehlschlegel,Romain Sonneville
    Source: Intensive care medicine
    No abstract
  • ASCEND: A randomized controlled trial of titration strategies for vagus nerve stimulation in drug-resistant epilepsy

    Monday, July 10, 2023
    Author(s): Anto I Bagić,Ryan Verner,Pegah Afra,Selim Benbadis,ASCEND Study Group
    Source: Epilepsy & behavior : E&B
    Vagus Nerve Stimulation (VNS) therapy is widely understood to provide clinically meaningful improvements in seizure control to patients with drug-resistant epilepsy, and has been a staple in the clinical armamentaria available to epileptologists for over 25 years. Despite the long history of evidence-based reviews by neurology professional societies, there is still evidence of a practice gap in VNS titration and dosing that aims to maximize clinical benefit. Recent retrospective analyses have...
  • Clinical validation of a multi-protein, serum-based assay for disease activity assessments in multiple sclerosis

    Thursday, July 06, 2023
    Author(s): Tanuja Chitnis,John Foley,Carolina Ionete,Nabil K El Ayoubi,Shrishti Saxena,Patricia Gaitan-Walsh,Hrishikesh Lokhande,Anu Paul,Fermisk Saleh,Howard Weiner,Ferhan Qureshi,Michael J Becich,Fatima Rubio da Costa,Victor M Gehman,Fujun Zhang,Anisha Keshavan,Kian Jalaleddini,Ati Ghoreyshi,Samia J Khoury
    Source: Clinical immunology (Orlando, Fla.)
    An 18-protein multiple sclerosis (MS) disease activity (DA) test was validated based on associations between algorithm scores and clinical/radiographic assessments (N = 614 serum samples; Train [n = 426; algorithm development] and Test [n = 188; evaluation] subsets). The multi-protein model was trained based on presence/absence of gadolinium-positive (Gd+) lesions and was also strongly associated with new/enlarging T2 lesions, and active versus stable disease (composite of radiographic and...
  • Stroke nurse navigator utilization reduces unplanned 30-day readmission in stroke patients treated with thrombolysis

    Monday, July 03, 2023
    Author(s): Adalia H Jun-O'Connell,Eliza Grigoriciuc,Akanksha Gulati,Brian Silver,Kimiyoshi J Kobayashi,Majaz Moonis,Nils Henninger
    Source: Frontiers in neurology
    CONCLUSION: The utilization of a stroke nurse navigator team reduced unplanned 30-day readmissions in stroke patients treated with thrombolysis. Further studies are warranted to determine the extent of the results of stroke patients not treated with thrombolysis and to better understand the relationship between resource utilization during the transition period from discharge and quality outcomes in stroke.
  • Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

    Friday, June 30, 2023
    Author(s): Karri Kaivola,Ruth Chia,Jinhui Ding,Memoona Rasheed,Masashi Fujita,Vilas Menon,Ronald L Walton,Ryan L Collins,Kimberley Billingsley,Harrison Brand,Michael Talkowski,Xuefang Zhao,Ramita Dewan,Ali Stark,Anindita Ray,Sultana Solaiman,Pilar Alvarez Jerez,Laksh Malik,Ted M Dawson,Liana S Rosenthal,Marilyn S Albert,Olga Pletnikova,Juan C Troncoso,Mario Masellis,Julia Keith,Sandra E Black,Luigi Ferrucci,Susan M Resnick,Toshiko Tanaka,American Genome Center,International LBD Genomics Consortium,International ALS/FTD Consortium,PROSPECT Consortium,Eric Topol,Ali Torkamani,Pentti Tienari,Tatiana M Foroud,Bernardino Ghetti,John E Landers,Mina Ryten,Huw R Morris,John A Hardy,Letizia Mazzini,Sandra D'Alfonso,Cristina Moglia,Andrea Calvo,Geidy E Serrano,Thomas G Beach,Tanis Ferman,Neill R Graff-Radford,Bradley F Boeve,Zbigniew K Wszolek,Dennis W Dickson,Adriano Chiò,David A Bennett,Philip L De Jager,Owen A Ross,Clifton L Dalgard,J Raphael Gibbs,Bryan J Traynor,Sonja W Scholz
    Source: Cell genomics
    We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for...
  • Telemedicine impact on post-stroke outpatient follow-up in an academic healthcare network during the COVID-19 pandemic

    Thursday, June 29, 2023
    Author(s): Darwish Alabyad,Manet Lemuel-Clarke,Marlyn Antwan,Laura Henriquez,Samir Belagaje,Srikant Rangaraju,Ashlee Mosley,Jacqueline Cabral,Teri Walczak,Moges Ido,Patricia Hashima,Rana Bayakly,Kathyrn Collins,Loretta Sutherly-Bhadsavle,Cynthia Brasher,Elham Danaie,Patricia Victor,Deborah Westover,Mark Webb,Susana Skukalek,A M Barrett,Gregory J Esper,Fadi Nahab
    Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
    CONCLUSIONS: Despite telemedicine implementation at an academic healthcare network successfully increasing post-stroke discharge follow-up in a centralized subspecialty stroke clinic, the majority of patients did not complete 90-day follow-up during the COVID-19 pandemic.
  • Early chromosome condensation by XIST builds A-repeat RNA density that facilitates gene silencing

    Thursday, June 29, 2023
    Author(s): Melvys Valledor,Meg Byron,Brett Dumas,Dawn M Carone,Lisa L Hall,Jeanne B Lawrence
    Source: Cell reports
    XIST RNA triggers chromosome-wide gene silencing and condenses an active chromosome into a Barr body. Here, we use inducible human XIST to examine early steps in the process, showing that XIST modifies cytoarchitecture before widespread gene silencing. In just 2-4 h, barely visible transcripts populate the large "sparse zone" surrounding the smaller "dense zone"; importantly, density zones exhibit different chromatin impacts. Sparse transcripts immediately trigger immunofluorescence for...
  • Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G

    Tuesday, June 27, 2023
    Author(s): Molly Smullen,Meagan N Olson,Liam F Murray,Madhusoodhanan Suresh,Guang Yan,Pepper Dawes,Nathaniel J Barton,Jivanna N Mason,Yucheng Zhang,Aria A Fernandez-Fontaine,George M Church,Diego Mastroeni,Qi Wang,Elaine T Lim,Yingleong Chan,Benjamin Readhead
    Source: Scientific reports
    Mitochondrial (MT) dysfunction has been associated with several neurodegenerative diseases including Alzheimer's disease (AD). While MT-copy number differences have been implicated in AD, the effect of MT heteroplasmy on AD has not been well characterized. Here, we analyzed over 1800 whole genome sequencing data from four AD cohorts in seven different tissue types to determine the extent of MT heteroplasmy present. While MT heteroplasmy was present throughout the entire MT genome for blood...
  • Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features

    Thursday, June 22, 2023
    Author(s): Ileana Lorenzini,Eric Alsop,Jennifer Levy,Lauren M Gittings,Deepti Lall,Benjamin E Rabichow,Stephen Moore,Ryan Pevey,Lynette M Bustos,Camelia Burciu,Divya Bhatia,Mo Singer,Justin Saul,Amanda McQuade,Makis Tzioras,Thomas A Mota,Amber Logemann,Jamie Rose,Sandra Almeida,Fen-Biao Gao,Michael Marks,Christopher J Donnelly,Elizabeth Hutchins,Shu-Ting Hung,Justin Ichida,Robert Bowser,Tara Spires-Jones,Mathew Blurton-Jones,Tania F Gendron,Robert H Baloh,Kendall Van Keuren-Jensen,Rita Sattler
    Source: Frontiers in cellular neuroscience
    While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD patient-derived induced pluripotent stem cells into microglia (iPSC-MG) and examined their intrinsic phenotypes. Similar to iPSC motor neurons, C9orf72 ALS/FTD iPSC-MG mono-cultures form G(4)C(2) repeat RNA foci, exhibit reduced C9orf72 protein...
  • Scoping Review of Multidisciplinary Care in Tourette Syndrome

    Monday, June 19, 2023
    Author(s): Samantha Willford,Wissam Deeb
    Source: Movement disorders clinical practice
    CONCLUSIONS: A multidisciplinary care model for TS is the preferred model advocated by patients, physicians, and organizations. This scoping review reveals that the impetus for multidisciplinary care rests on four primary benefits, but there is a lack of empirical evidence for defining and evaluating its use.
  • FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids

    Saturday, June 10, 2023
    Author(s): Liam Murray,Meagan N Olson,Nathaniel Barton,Pepper Dawes,Yingleong Chan,Elaine T Lim
    Source: Methods in molecular biology (Clifton, N.J.)
    Recent technological developments have led to widespread applications of large-scale transcriptomics-based sequencing methods to identify genotype-to-cell type associations. Here we describe a fluorescence-activated cell sorting (FACS)-based sequencing method to utilize CRISPR/Cas9 edited mosaic cerebral organoids to identify or validate genotype-to-cell type associations. Our approach is high-throughput and quantitative and uses internal controls to enable comparisons of the results across...
  • Prognostic Language in Critical Neurologic Illness: A Multicenter Mixed-Methods Study

    Thursday, June 08, 2023
    Author(s): Adeline Goss,Connie Ge,Sybil Crawford,Kelsey Goostrey,Praewpannanrai Buddadhumaruk,Catherine L Hough,Bernard Lo,Shannon Carson,Jay Steingrub,Douglas B White,Susanne Muehlschlegel
    Source: Neurology
    BACKGROUND AND OBJECTIVES: There are no evidence-based guidelines for discussing prognosis in critical neurologic illness, but in general, experts recommend that clinicians communicate prognosis using estimates, such as numerical or qualitative expressions of risk. Little is known about how real-world clinicians communicate prognosis in critical neurologic illness. Our primary objective was to characterize prognostic language clinicians used in critical neurologic illness. We additionally...
  • Recent advances in treatment of spatial neglect: networks and neuropsychology

    Monday, June 05, 2023
    Author(s): Alex R Carter,A M Barrett
    Source: Expert review of neurotherapeutics
    INTRODUCTION: Spatial neglect remains an underdiagnosed and undertreated consequence of stroke that imposes significant disability. A growing appreciation of brain networks involved in spatial cognition is helping us to develop a mechanistic understanding of different therapies under development.
  • Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models

    Monday, May 15, 2023
    Author(s): Renatta N Knox,Jocelyn O Eidahl,Lindsay M Wallace,Sarah G Choudury,Afrooz Rashnonejad,Katelyn Daman,Matthew J Guggenbiller,Nizar Y Saad,Michael E Hoover,Liwen Zhang,Owen E Branson,Charles P Emerson,Michael A Freitas,Scott Q Harper
    Source: Annals of neurology
    OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX4. Although the transcriptional targets of DUX4 are known, the regulation of DUX4 protein and the molecular consequences of this regulation are unclear. Here, we used in vitro models of FSHD to identify and characterize DUX4 post-translational modifications (PTMs) and their impact on the toxic function of DUX4.
  • Perioperative Acute Ischemic Stroke in Patients with Atrial Fibrillation

    Monday, May 15, 2023
    Author(s): Liqi Shu,Wei Jiang,Han Xiao,Nils Henninger,Thanh N Nguyen,James E Siegler,Adam de Havenon,Eric D Goldstein,Daniel Mandel,Maheen Rana,Fawaz Al-Mufti,Jennifer Frontera,Karen Furie,Shadi Yaghi
    Source: Annals of neurology
    OBJECTIVE: Anticoagulation therapy is commonly interrupted in patients with atrial fibrillation (AF) for elective procedures. However, the risk factors of acute ischemic stroke (AIS) during the periprocedural period remain uncertain. We performed a nationwide analysis to evaluate AIS risk factors in patients with AF undergoing elective surgical procedures.
  • Intravital Imaging of Fluorescent Protein Expression in Mice with a Closed-Skull Traumatic Brain Injury and Cranial Window Using a Two-Photon Microscope

    Monday, May 08, 2023
    Author(s): Jianjun Zhong,Georgia Gunner,Nils Henninger,Dorothy P Schafer,Daryl A Bosco
    Source: Journal of visualized experiments : JoVE
    The goal of this protocol is to demonstrate how to longitudinally visualize the expression and localization of a protein of interest within specific cell types of an animal's brain, upon exposure to exogenous stimuli. Here, the administration of a closed-skull traumatic brain injury (TBI) and simultaneous implantation of a cranial window for subsequent longitudinal intravital imaging in mice is shown. Mice are intracranially injected with an adeno-associated virus (AAV) expressing enhanced green...
  • Hematoma-induced Twiddler-like phenomenon as a presentation of DBS hardware failure: Case report

    Monday, May 08, 2023
    Author(s): Marshall T Holland,Abraham Alvarado-Gonzalez,Joshua K Wong,Leonardo Brito de Almeida,Aparna Wagle Shukla,Wissam Deeb,Addie Patterson,Michael S Okun,Kelly D Foote
    Source: Frontiers in human neuroscience
    Deep brain stimulators (DBS) may fail for a multitude of reasons. We present a 79-year-old Parkinson's disease patient who suffered a DBS failure following impulse generator (IPG) replacement surgery due to the IPG flipping within an expanded capsular pocket. This creation of the pocket was unintentional, and the pocket formed around an undiagnosed postoperative hemorrhage. The syndrome could be considered "Twiddler-like" because it resulted in device flipping. There were, however, many...
  • Renewal of oligodendrocyte lineage reverses dysmyelination and CNS neurodegeneration through corrected N-acetylaspartate metabolism

    Saturday, May 06, 2023
    Author(s): Anoushka Lotun,Danning Li,Hongxia Xu,Qin Su,Serafettin Tuncer,Julio Sanmiguel,Morgan Mooney,Christina E Baer,Russell Ulbrich,Stephen J Eyles,Lara Strittmatter,Lawrence J Hayward,Dominic J Gessler,Guangping Gao
    Source: Progress in neurobiology
    Myelinating oligodendrocytes are essential for neuronal communication and homeostasis of the central nervous system (CNS). One of the most abundant molecules in the mammalian CNS is N-acetylaspartate (NAA), which is catabolized into L-aspartate and acetate by the enzyme aspartoacylase (ASPA) in oligodendrocytes. The resulting acetate moiety is thought to contribute to myelin lipid synthesis. In addition, affected NAA metabolism has been implicated in several neurological disorders, including...
  • Pausing before verb production is associated with mild cognitive impairment in Parkinson's disease

    Friday, April 28, 2023
    Author(s): Eduardo Inacio Nascimento Andrade,Christina Manxhari,Kara M Smith
    Source: Frontiers in human neuroscience
    CONCLUSION: We characterized pausing patterns in spontaneous speech in PD-MCI, including analysis of pause location with respect to verb class. We identified associations between cognitive status and pausing before utterances containing action verbs. Evaluation of verb-related pauses may be developed into a potentially powerful speech marker tool to detect early cognitive decline in PD and better understand linguistic dysfunction in PD.
  • Correction to: Guidelines for Neuroprognostication in Adults with Guillain-Barré Syndrome

    Wednesday, April 26, 2023
    Author(s): Katharina M Busl,Herbert Fried,Susanne Muehlschlegel,Katja E Wartenberg,Venkatakrishna Rajajee,Sheila A Alexander,Claire J Creutzfeldt,Gabriel V Fontaine,Sara E Hocker,David Y Hwang,Keri S Kim,Dominik Madzar,Dea Mahanes,Shraddha Mainali,Juergen Meixensberger,Oliver W Sakowitz,Panayiotis N Varelas,Thomas Westermaier,Christian Weimar
    Source: Neurocritical care
    No abstract
  • Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic

    Monday, April 24, 2023
    Author(s): Mehdi Ghasemi,Kristy Poulliot,Kate M Daniello,Brian Silver
    Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
    CONCLUSIONS: Telemedicine is feasible and highly effective at achieving personalized care that was rated satisfactory by the majority of neuromuscular patients/caregivers and HCPs during the COVID-19 pandemic.
  • Clinical characteristics and risk factors for bilateral lateral geniculate body pathology: a systematic review of the literature

    Saturday, April 22, 2023
    Author(s): Bahadar S Srichawla,Raymond M Catton,Alexander A Lichtenberg,Nils Henninger
    Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
    CONCLUSIONS: Bilateral LGB lesion is a rare cause of vision loss, typically caused by systemic diseases and with female preponderance. Purported pathophysiology relates to increased vulnerability of the LGB to ischemic and metabolic stress.
  • The exocyst complex in neurological disorders

    Friday, April 21, 2023
    Author(s): Dilara O Halim,Mary Munson,Fen-Biao Gao
    Source: Human genetics
    Exocytosis is the process by which secretory vesicles fuse with the plasma membrane to deliver materials to the cell surface or to release cargoes to the extracellular space. The exocyst-an evolutionarily conserved octameric protein complex-mediates spatiotemporal control of SNARE complex assembly for vesicle fusion and tethering the secretory vesicles to the plasma membrane. The exocyst participates in diverse cellular functions, including protein trafficking to the plasma membrane, membrane...
  • Early Mobilization Post Acute Stroke Thrombolysis and/or Thrombectomy Survey

    Monday, April 17, 2023
    Author(s): Brian Silver,Meaghan Demers-Peel,Anne W Alexandrov,Magdy H Selim,Julie Bernhardt
    Source: The Neurohospitalist
    CONCLUSIONS: Mobilization practices following emergency ischemic stroke reperfusion treatments vary significantly across stroke centers. Mobilization of patients is performed primarily by nurses and therapists. Further study regarding an optimal approach for mobilization following acute ischemic stroke thrombolysis and/or thrombectomy is warranted.
  • Immersive medical virtual reality: still a novelty or already a necessity?

    Thursday, April 13, 2023
    Author(s): Tobias Loetscher,A M Barrett,Mark Billinghurst,Belinda Lange
    Source: Journal of neurology, neurosurgery, and psychiatry
    No abstract
  • Genetic variability in sporadic amyotrophic lateral sclerosis

    Wednesday, April 12, 2023
    Author(s): Sien Hilde Van Daele,Matthieu Moisse,Joke J F A van Vugt,Ramona A J Zwamborn,Rick van der Spek,Wouter van Rheenen,Kristel Van Eijk,Kevin Kenna,Philippe Corcia,Patrick Vourc'h,Philippe Couratier,Orla Hardiman,Russell McLaughin,Marc Gotkine,Vivian Drory,Nicola Ticozzi,Vincenzo Silani,Antonia Ratti,Mamede de Carvalho,Jesús S Mora Pardina,Monica Povedano,Peter M Andersen,Markus Weber,Nazli A Başak,Chris Shaw,Pamela J Shaw,Karen E Morrison,John E Landers,Jonathan D Glass,Michael A van Es,Leonard H van den Berg,Ammar Al-Chalabi,Jan Veldink,Philip Van Damme
    Source: Brain : a journal of neurology
    With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic variation in all ALS-associated genes in sporadic ALS (sALS) are still scarce. Gene testing in a diagnostic setting is challenging, given the complex genetic architecture of sALS, for which there are genetic variants with large and small...
  • Longitudinal assessment of neurocognitive function in people with relapsing multiple sclerosis initiating alemtuzumab in routine clinical practice: LEM-COG study results

    Friday, April 07, 2023
    Author(s): Jeffrey Wilken,Anthony Traboulsee,Flavia Nelson,Carolina Ionete,Shannon Kolind,Timothy Fratto,Robert Kane,Roopali Gandhi,Andreea M Rawlings,Nora Roesch,Mark A Ozog,John DeLuca,LEM-COG investigators
    Source: Multiple sclerosis and related disorders
    CONCLUSION: The findings from this study suggest that alemtuzumab has a positive impact on cognitive function with significant improvements in processing speed and depression in people with RMS over a period of 12 months. The safety profile of alemtuzumab was consistent with previous studies.
  • Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

    Thursday, April 06, 2023
    Author(s): Fulya Akçimen,Elia R Lopez,John E Landers,Avindra Nath,Adriano Chiò,Ruth Chia,Bryan J Traynor
    Source: Nature reviews. Genetics
    Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and...
  • Subsequent ischemic stroke and tobacco smoking: A secondary analysis of the POINT trial

    Thursday, April 06, 2023
    Author(s): Adam Edward Lang,Adam de Havenon,Brian Mac Grory,Nils Henninger,Liqi Shu,Karen L Furie,J Donald Easton,Anthony Kim,S Claiborne Johnston,Shadi Yaghi
    Source: European stroke journal
    CONCLUSIONS: In this post-hoc analysis of the POINT trial we found that the effect of clopidogrel on reducing subsequent ischemic stroke as well as risk of major hemorrhage did not depend on smoking status, indicating that smokers benefit to a similar degree from DAPT as non-smokers.
  • Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery

    Tuesday, April 04, 2023
    Author(s): Huiya Yang,Robert H Brown,Dan Wang,Kevin A Strauss,Guangping Gao
    Source: JCI insight
    GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in ST3GAL5. Loss of ST3GAL5 activity in humans results in systemic ganglioside deficiency and severe neurological impairment. No disease-modifying treatment is currently available. Certain recombinant adeno-associated viruses (rAAVs) can cross the blood-brain barrier to induce widespread, long-term gene expression in the CNS and represent a promising therapeutic...
  • Guidelines for Neuroprognostication in Adults with Guillain-Barré Syndrome

    Saturday, March 25, 2023
    Author(s): Katharina M Busl,Herbert Fried,Susanne Muehlschlegel,Katja E Wartenberg,Venkatakrishna Rajajee,Sheila A Alexander,Claire J Creutzfeldt,Gabriel V Fontaine,Sara E Hocker,David Y Hwang,Keri S Kim,Dominik Madzar,Dea Mahanes,Shraddha Mainali,Juergen Meixensberger,Oliver W Sakowitz,Panayiotis N Varelas,Thomas Westermaier,Christian Weimar
    Source: Neurocritical care
    CONCLUSIONS: These guidelines provide recommendations on the reliability of predictors of the need for mechanical ventilation, poor functional outcome, and independent ambulation following GBS in the context of counseling patients and/or surrogates and suggest broad principles of neuroprognostication. Few predictors were considered moderately reliable based on the available body of evidence, and higher quality data are needed.
  • Guidelines for Neuroprognostication in Comatose Adult Survivors of Cardiac Arrest

    Thursday, March 23, 2023
    Author(s): Venkatakrishna Rajajee,Susanne Muehlschlegel,Katja E Wartenberg,Sheila A Alexander,Katharina M Busl,Sherry H Y Chou,Claire J Creutzfeldt,Gabriel V Fontaine,Herbert Fried,Sara E Hocker,David Y Hwang,Keri S Kim,Dominik Madzar,Dea Mahanes,Shraddha Mainali,Juergen Meixensberger,Felipe Montellano,Oliver W Sakowitz,Christian Weimar,Thomas Westermaier,Panayiotis N Varelas
    Source: Neurocritical care
    CONCLUSIONS: These guidelines provide recommendations on the reliability of predictors of poor outcome in the context of counseling surrogates of comatose survivors of cardiac arrest and suggest broad principles of neuroprognostication. Few predictors were considered reliable or moderately reliable based on the available body of evidence.
  • Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

    Monday, March 20, 2023
    Author(s): Brett N Adey,Johnathan Cooper-Knock,Ahmad Al Khleifat,Isabella Fogh,Philip van Damme,Philippe Corcia,Philippe Couratier,Orla Hardiman,Russell McLaughlin,Marc Gotkine,Vivian Drory,Vincenzo Silani,Nicola Ticozzi,Jan H Veldink,Leonard H van den Berg,Mamede de Carvalho,Susana Pinto,Jesus S Mora Pardina,Mónica Povedano Panades,Peter M Andersen,Markus Weber,Nazli A Başak,Christopher E Shaw,Pamela J Shaw,Karen E Morrison,John E Landers,Jonathan D Glass,Patrick Vourc'h,Richard J B Dobson,Gerome Breen,Ammar Al-Chalabi,Ashley R Jones,Alfredo Iacoangeli
    Source: Frontiers in cellular neuroscience
    Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts. Methods: Using large ALS whole-genome sequencing and post-mortem RNA sequencing datasets (5,987 and 365 tissue...
  • Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD

    Friday, March 17, 2023
    Author(s): Soojin Lee,Yong-Woo Jun,Gabriel R Linares,Brandon Butler,Yeliz Yuva-Adyemir,Jill Moore,Gopinath Krishnan,Bryan Ruiz-Juarez,Manuel Santana,Marine Pons,Neal Silverman,Zhiping Weng,Justin K Ichida,Fen-Biao Gao
    Source: Neuron
    GGGGCC repeat expansion in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat RNAs can be translated into dipeptide repeat proteins, including poly(GR), whose mechanisms of action remain largely unknown. In an RNA-seq analysis of poly(GR) toxicity in Drosophila, we found that several antimicrobial peptide genes, such as metchnikowin (Mtk), and heat shock protein (Hsp) genes are activated. Mtk knockdown in the fly eye...
  • oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids

    Monday, March 06, 2023
    Author(s): Pepper Dawes,Liam F Murray,Meagan N Olson,Nathaniel J Barton,Molly Smullen,Madhusoodhanan Suresh,Guang Yan,Yucheng Zhang,Aria Fernandez-Fontaine,Jay English,Mohammed Uddin,ChangHui Pak,George M Church,Yingleong Chan,Elaine T Lim
    Source: Human genetics
    Cerebral organoids are comprised of diverse cell types found in the developing human brain, and can be leveraged in the identification of critical cell types perturbed by genetic risk variants in common, neuropsychiatric disorders. There is great interest in developing high-throughput technologies to associate genetic variants with cell types. Here, we describe a high-throughput, quantitative approach (oFlowSeq) by utilizing CRISPR-Cas9, FACS sorting, and next-generation sequencing. Using...
  • In vivo characterization of microglia and myelin relation in multiple sclerosis by combined 11C-PBR28 PET and synthetic MRI

    Wednesday, March 01, 2023
    Author(s): Valeria T Barletta,Elena Herranz,Constantina Andrada Treaba,Ambica Mehndiratta,Russell Ouellette,Tobias Granberg,Eric C Klawiter,Carolina Ionete,Jacob A Sloane,Caterina Mainero
    Source: Journal of neurology
    CONCLUSION: our data suggest an inverse relation of microglia activation and myelination, particularly in perilesional white matter tissue.
  • Machine Learning and Eye Movements Give Insights into Neurodegenerative Disease Mechanisms

    Tuesday, February 28, 2023
    Author(s): Andrzej W Przybyszewski,Albert Śledzianowski,Artur Chudzik,Stanisław Szlufik,Dariusz Koziorowski
    Source: Sensors (Basel, Switzerland)
    Humans are a vision-dominated species; what we perceive depends on where we look. Therefore, eye movements (EMs) are essential to our interactions with the environment, and experimental findings show EMs are affected in neurodegenerative disorders (ND). This could be a reason for some cognitive and movement disorders in ND. Therefore, we aim to establish whether changes in EM-evoked responses can tell us about the progression of ND, such as Alzheimer's (AD) and Parkinson's diseases (PD), in...
  • Non-muscle MYH10/myosin IIB recruits ESCRT-III to participate in autophagosome closure to maintain neuronal homeostasis

    Monday, February 27, 2023
    Author(s): Yong-Woo Jun,Soojin Lee,Byung-Kwan Ban,Jin-A Lee,Fen-Biao Gao
    Source: Autophagy
    Dysfunction of the endosomal sorting complex required for transport (ESCRT) has been linked to frontotemporal dementia (FTD) due in part to the accumulation of unsealed autophagosomes. However, the mechanisms of ESCRT-mediated membrane closure events on phagophores remain largely unknown. In this study, we found that partial knockdown of non-muscle MYH10/myosin IIB/zip rescues neurodegeneration in both Drosophila and human iPSC-derived cortical neurons expressing FTD-associated mutant CHMP2B, a...
  • Editorial: Generation of Functional tissues from human pluripotent stem cells

    Monday, February 27, 2023
    Author(s): Dongsheng Guo,Xianming Wang,Ke Huang
    Source: Frontiers in cell and developmental biology
    No abstract
  • Large-scale organoid study suggests effects of trisomy 21 on early fetal neurodevelopment are more subtle than variability between isogenic lines and experiments

    Thursday, February 23, 2023
    Author(s): Jan T Czerminski,Oliver D King,Jeanne B Lawrence
    Source: Frontiers in neuroscience
    This study examines cortical organoids generated from a panel of isogenic trisomic and disomic iPSC lines (subclones) as a model of early fetal brain development in Down syndrome (DS). An initial experiment comparing organoids from one trisomic and one disomic line showed many genome-wide transcriptomic differences and modest differences in cell-type proportions, suggesting there may be a neurodevelopmental phenotype that is due to trisomy of chr21. To better control for multiple sources of...
  • PIKFYVE inhibition mitigates disease in models of diverse forms of ALS

    Wednesday, February 08, 2023
    Author(s): Shu-Ting Hung,Gabriel R Linares,Wen-Hsuan Chang,Yunsun Eoh,Gopinath Krishnan,Stacee Mendonca,Sarah Hong,Yingxiao Shi,Manuel Santana,Chuol Kueth,Samantha Macklin-Isquierdo,Sarah Perry,Sarah Duhaime,Claudia Maios,Jonathan Chang,Joscany Perez,Alexander Couto,Jesse Lai,Yichen Li,Samuel V Alworth,Eric Hendricks,Yaoming Wang,Berislav V Zlokovic,Dion K Dickman,J Alex Parker,Daniela C Zarnescu,Fen-Biao Gao,Justin K Ichida
    Source: Cell
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results from many diverse genetic causes. Although therapeutics specifically targeting known causal mutations may rescue individual types of ALS, these approaches cannot treat most cases since they have unknown genetic etiology. Thus, there is a pressing need for therapeutic strategies that rescue multiple forms of ALS. Here, we show that pharmacological inhibition of PIKFYVE kinase activates an unconventional protein...
  • Defining Scholarship for Today and Tomorrow

    Thursday, February 02, 2023
    Author(s): Robert J Milner,Terence R Flotte,Luanne E Thorndyke
    Source: The Journal of continuing education in the health professions
    Scholarship, required for academic advancement, has traditionally been defined narrowly, not keeping pace with the expansion of faculty academic activities in health professions schools. How can we refine the definition of scholarship so that it better aligns with the scope of current faculty practice within academic health systems? Revision of the academic policies for promotion and tenure at the University of Massachusetts Chan Medical School afforded an opportunity to redefine scholarship...