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Publication Spotlights

 

Congratulations on our team's most recent publication achievements!


SIMS training A recent publication on teaching palliative care to neurology residents at UMass in a simulated setting showcases the collaboration between palliative care and neurology in a recent article published in Neurology Journal titled Curriculum Innovations: Enhancing skills in serious illness communication in Neurology Residents Using Simulation: 

Read the article published by UMass Chan News, https://www.umassmed.edu/medicine/research/researchers-in-the-news/palliative-care-and-neurology-collaborate-to-develop-curriculum-that-aims-to-improve-serious-illness-communication-skills-for-neurology-residents/ 

April 2025 

Felicia Chu, first author, of the April 2025 publication in Frontiers in Neurology, titled, Clinician and patient readiness to engage with community health workers at epilepsy care centers

Felicia Chu, last author, of the April 2025 publication in Frontiers in Neurology, titled, A qualitative analysis of clinician perspectives on community health worker integration at epilepsy centers

March 2025

Margaret Owegi and the Neuromuscular Medicine Research Center collaboration in The Healey ALS Platform Trial. Most recently, the trial study published three articles detailing the research findings. 

Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial | Amyotrophic Lateral Sclerosis | JAMA | JAMA Network 

Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial | Amyotrophic Lateral Sclerosis | JAMA Neurology | JAMA Network 

CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial | Amyotrophic Lateral Sclerosis | JAMA | JAMA Network 

 

Access to the PubMed list of publications

Total: displaying 15 out of 50 results

  • Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes

    Friday, August 22, 2025
    Author(s): Arianna Manini,Alberto Brusati,Maurizio Grassano,Giulia Scacciatella,Silvia Peverelli,Jacopo Spagliardi,Viviana Pensato,Alberto Doretti,Rosario Vasta,Umberto Manera,Antonio Canosa,Maura Brunetti,Davide Gentilini,Stefano Messina,Federico Verde,Cristina Moglia,Claudia Morelli,Eleonora Dalla Bella,Pamela J Keagle,John E Landers,Cinzia Gellera,Giuseppe Lauria Pinter,Adriano Chiò,Antonia Ratti,Andrea Calvo,Vincenzo Silani,Nicola Ticozzi
    Source: Journal of neurology
    CONCLUSIONS: Our study demonstrates a notable genetic intersection between PLS and various neurological disorders, including motor neuron diseases, neuropathies, mitochondrial disorders, ataxias, and dementias. These findings underscore the relevance of further investigation in larger cohorts to fully elucidate PLS genetic architecture and highlight the need to reconsider the role of genetic testing in its diagnostic criteria.

  • Hypoperfusion intensity ratio is associated with follow-up infarct volume in medium vessel occlusions: A multicenter multinational study

    Tuesday, August 19, 2025
    Author(s): Vivek Yedavalli,Hamza Adel Salim,Dhairya Lakhani,Basel Musmar,Nimer Adeeb,Davide Simonato,Yan-Lin Li,Orabi Hajjeh,Muhammed Amir Essibayi,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Takahiro Ota,Ashkan Mowla,Kareem El Naamani,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Tobias D Faizy,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Maurizio Fuschi,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
    Medium vessel occlusion (MeVO) contributes significantly to acute ischemic stroke (AIS). The hypoperfusion intensity ratio (HIR), reflecting collateral circulation via the ratio of Tmax 10s to Tmax 6s volumes, predicts infarct progression in large-vessel occlusions but is unstudied in MeVOs. In this multicenter, multinational retrospective study, we evaluated consecutive patients with MeVO who underwent mechanical thrombectomy with or without intravenous thrombolysis. Inclusion required...

  • The Faculty Retreat as a Tool for Faculty Development

    Tuesday, August 19, 2025
    Author(s): Auralyd Padilla Candelario,Elizabeth DeGrush,Sheldon Benjamin
    Source: Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry
    No abstract

  • Whole genome sequencing of historical specimens from the world's largest fungal collection yields high-quality assemblies

    Tuesday, August 19, 2025
    Author(s): Torda Varga,Roseina Woods,Frances Pitsillides,Rowena Hill,Alona Yu Biketova,Theo Llewellyn,Brandon J P Shaw,Emily Hodgson,Brigid Wong,Jasmine Le,Josepha Becker,Alexander J Bradshaw,Seth L E Blake,Clementine Geeves,Quentin Levicky,Lottie Goodman,Ruben L Mole,Sidney L Reed,M Carly Lin,Emily Read,Keenan Harris,Raquel Pino-Bodas,László G Nagy,Anna Bazzicalupo,Ester Gaya
    Source: The New phytologist
    High-throughput molecular studies of museum specimens (museomics) have great potential in biodiversity research, but fungal historical collections have scarcely been examined, leading to no comprehensive methodological assessments. Here we present a whole genome sequencing (WGS) project conducted at the Fungarium of the Royal Botanic Gardens, Kew. DNA was extracted from 2104 specimens collected between 1770 and 2023, and we found that the specimen age had the smallest effect, while DNA...

  • Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial

    Friday, August 15, 2025
    Author(s): Florian Eichler,Oguz I Cataltepe,Rrita Daci,Ajit S Puri,Toloo Taghian,Xuntian Jiang,Mohammed Salman Shazeeb,Anna Kuhn,Asma Hader,Hakki Celik,Zeynep Vardar,Connor J Lewis,Rebecca Artinian,Amanda Nagy,Behroze Vachha,Robert Thompson,Thomas Gallagher,Scot Bateman,Julia Parzych,Spiro G Spanakis,Toby A Vaughn,Kirsten Pier,Erika De Boever,Mary-Alice Abbott,Eleonora D Ambrosio,Danielle Kokoski,Meghan Blackwood,Elise Drummond,Eva-Maria Ratai,Elise L Townsend,Haley McLaughlin,Cynthia J Tifft,Allison M Keeler,Miguel Sena-Esteves,Heather L Gray-Edwards,Terence R Flotte
    Source: Nature medicine
    The dual rAAVrh8-HEXA and rAAVrh8-HEXB vector can restore central nervous system hexosaminidase (Hex) enzyme activity, decrease GM2 levels in cerebrospinal fluid and rescue phenotypic consequences of GM2 gangliosidosis, Tay-Sachs and Sandhoff diseases in animal models following simultaneous bi-thalamic (BiT) injections. Following up on an n = 2 expanded access trial, we initiated a phase 1/2, single-dose, dose-escalation of combined BiT, intra-cisterna magna and intrathecal infusion in children...

  • Executive functioning and processing speed as predictors of global cognitive decline in Alzheimer's disease

    Monday, August 11, 2025
    Author(s): John P Haran,A M Barrett,YuShuan Lai,Samuel N Odjidja,Protiva Dutta,Patrick M McGrath,Imane Samari,Lethycia Romeiro,Abigail Lopes,Vanni Bucci,Beth A McCormick
    Source: Journal of Alzheimer's disease reports
    CONCLUSIONS: Testing for cognitive domains of processing speed and executive functioning may predict subsequent global cognitive.

  • Urban air pollution reduces H3K9me2/me3 in hippocampal and olfactory neurons, correlating with memory and social deficits

    Wednesday, August 06, 2025
    Author(s): Nur Jury-Garfe,Mario Sánchez-Rubio,Gino Nardocci,Constanza Mercado,Nicolas Peña-Baeza,Pablo Ruiz-Rudolph,Martín Montecino,Lorena Varela-Nallar,Brigitte van Zundert
    Source: The Science of the total environment
    Air pollution, particularly fine particulate matter and ultrafine particles, has been strongly associated with cognitive impairments and neurodegenerative diseases. These effects are mediated by mechanisms such as neuroinflammation, oxidative stress, and alterations in the transcriptional machinery. Although evidence indicates that particulate matter influences brain epigenetics, its effects on brain function and behavior remain poorly understood. In this study, we employed a 'real-world'...

  • AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

    Wednesday, August 06, 2025
    Author(s): Connor J Lewis,Precilla D'Souza,Jean M Johnston,Maria T Acosta,Cristan Farmer,Eva H Baker,Anna Crowell,Yoliann Mojica,Sumaiya Rahman,Lisa Joseph,Adam Hartman,Gilbert Vézina,Zenaide Quezado,Muhammad H Yousef,Amelia Luckett,Zeynep Vardar,Mohammad Salman Shazeeb,Manuela Corti,Meghan Blackwood,Kirsten Coleman,Audrey Thurm,Erika De Boever,William A Gahl,Barry J Byrne,Terence R Flotte,Xuntian Jiang,Amanda L Gross,Allison M Keeler,Heather Gray-Edwards,Douglas R Martin,Miguel Sena-Esteves,Cynthia J Tifft
    Source: medRxiv : the preprint server for health sciences
    CONCLUSIONS: A single IV infusion of AAV9 encoding β-galactosidase was well-tolerated among the first nine Type II GM1 gangliosidosis participants. Secondary and exploratory outcomes suggested improvements in biochemical markers and neuroimaging and stabilized or reduced rates of developmental deterioration (NCT03952637).

  • Intrastriatal Delivery of a Zinc Finger Protein Targeting the Mutant HTT Gene Allele Obviates Lipid Phenotypes in Brain and Plasma in Huntington's Disease Mice

    Friday, July 25, 2025
    Author(s): Andrew Iwanowicz,Adel Boudi,Connor Seeley,Ellen Sapp,Rachael Miller,Sophia Liu,Kathryn Chase,Kai Shing,Ana Rita Batista,Miguel Siena-Esteves,Neil Aronin,Marian DiFiglia,Kimberly B Kegel-Gleason
    Source: Human gene therapy
    Reducing the burden of mutant Huntingtin (mHTT) protein in brain cells is a strategy for treating Huntington's disease (HD). However, it is still unclear what pathological changes can be reproducibly reversed by mHTT lowering and whether these changes can be measured in peripheral biofluids. We previously found that lipid changes that occur in brain with HD progression could be prevented by attenuating HTT transcription of the mutant allele in a genetic mouse model (LacQ140) with inducible whole...

  • The Central Variant of Posterior Reversible Encephalopathy Syndrome: A Systematic Review and Meta-Analysis

    Friday, July 25, 2025
    Author(s): Bahadar S Srichawla,Maria A Garcia-Dominguez,Brian Silver
    Source: Neurology international
    CONCLUSIONS: cvPRES is most often associated with higher blood pressure compared to prior studies with typical PRES. The pons is most often involved. Despite the severity of blood pressure and critical brain stem involvement, those with cvPRES have favorable functional outcomes and a lower mortality rate than typical PRES, likely attributable to reversible vasogenic edema without significant neuronal dysfunction.

  • Intravenous Thrombolysis in Patients With Recent Intake of Direct Oral Anticoagulants: A Target Trial Analysis and Comparison With Reversal Agent Use

    Tuesday, July 22, 2025
    Author(s): Thomas R Meinel,Philipp Bücke,Lucio D'Anna,Giovanni Merlino,Diana Aguiar de Sousa,Sven Poli,Jan C Purrucker,Davide Strambo,Michele Romoli,Gian Marco De Marchis,Waltraud Pfeilschifter,Marialuisa Zedde,João Pedro Marto,Paolo Candelaresi,Robin Lemmens,Pasquale Scoppettuolo,Malin Woock,Pawel Kermer,Espen Saxhaug Kristoffersen,Malik Ghannam,Senta Frol,Christian H Nolte,Yusuke Yakushiji,Emmanuel Touzé,Timo Uphaus,Marina Mannino,George Ntaios,Visnja Padjen,Nils Henninger,Freschta Zipser-Mohammadzada,Marisa E Mariano,Carolina Guerreiro,Alessandra Burini,Laura Ceccarelli,Mariarosaria Valente,Alexandra Gomez-Exposito,Antonia Kleeberg,Guillaume Thevoz,Patrik Michel,Gianluca Stufano,Dimitrios Vlachos,Matthias Herrmann,Bárbara Rodrigues,Emanuele Spina,Vincenzo Andreone,Arne Allardt,Qasem N Alshaer,Christoph Riegler,Takenobu Kunieda,Marion Boulanger,Marianne Hahn,Dimitra Papadimitriou,Jayachandra Muppa,Louise Maes,Anna Ranta,Alicia Tyson,P Alan Barber,Alan Davis,Teddy Y Wu,Johannes Kaesmacher,Urs Fischer,David J Seiffge,International DO-IT Collaboration
    Source: Stroke
    CONCLUSIONS: This target trial confirms previous observational data regarding the safety of off-label IVT in patients with recent DOAC intake. More data and dedicated trials are needed for patients with confirmed high DOAC plasma levels and regarding the efficacy and safety of DOAC reversal before IVT.

  • Noncontrast Head CT Alone vs CT Perfusion in Basilar Artery Occlusion Thrombectomy: Sometimes Less Is Just as Good

    Thursday, July 17, 2025
    Author(s): Thomas R Ford,Brian Silver
    Source: Neurology
    No abstract

  • A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic

    Thursday, July 17, 2025
    Author(s): Katelyn Daman,Jing Yan,Annabelle Biscans,Dimas Echeverria,Taisia Shmushkovich,Alexey Wolfson,Julia F Alterman,Anastasia Khvorova,Charles P Emerson
    Source: Molecular therapy. Methods & clinical development
    Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading to muscle toxicity and turnover. As a gene misexpressed exclusively in muscle, DUX4 is a suitable for muscle-targeted small interfering RNA (siRNA) knockdown therapy. Here we identify a DUX4-targeting siRNA, DU01, that potently knocks down the...

  • Novel Dual Mechanism GRT-X Agonist Acting on Kv7 Potassium Channel/Translocator Protein Receptor Prevents Motoneuron Degeneration Following Exposure to Mouse and Human Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Astrocyte-Conditioned Media

    Thursday, July 17, 2025
    Author(s): Vera M Masegosa,Elsa Fritz,Daniela Corvalan,Fabiola Rojas,Polett Garcés,Xavier Navarro,Petra Bloms-Funke,Brigitte van Zundert,Mireia Herrando-Grabulosa
    Source: ACS chemical neuroscience
    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) form a continuous spectrum of aggressive neurodegenerative diseases affecting primarily motoneurons (MNs) and cortical frontotemporal neurons. Noncell autonomous mechanisms contribute to ALS/FTD, wherein astrocytes release toxic factor(s) detrimental to MNs. Because of the multifactorial nature of ALS, single-pathway-focused therapies have limited effectiveness in improving ALS. Therefore, novel combinatorial therapies are...

  • Baseline predictors of poor clinical outcome despite recanalization of distal middle cerebral artery occlusions

    Wednesday, July 16, 2025
    Author(s): Imene Chafai,Hamza Salim,Basel Musmar,Nimer Adeeb,Vivek Yedavalli,Kareem ElNaamani,Nils Henninger,Simona Nedelcu,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Jeremy Josef Heit,Robert W Regenhardt,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Muhammed Amir Essibayi,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Gaultier Marnat,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,V Costalat,Benjamin Gory,Paul Stracke,Mohammad A Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Aman B Patel,Robert Fahed,Maud Wang,Vitor Mendes Pereira,Boris Lubicz,Adam A Dmytriw,Adrien Guenego,MAD MT Investigators ##
    Source: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
    ObjectiveMechanical thrombectomy (MT) is well-established for the treatment of acute ischemic stroke (AIS) from large vessel occlusion (LVO), with growing data supporting the expansion to distal and medium vessel occlusions (DMVO). Despite successful recanalization in DMVO, certain patients still experience poor long-term clinical outcomes, prompting our study to comprehensively explore pre-MT factors influencing outcome despite excellent recanalization (final modified Thrombolysis in Cerebral...

  • Petechial hemorrhage in mechanical thrombectomy for distal and medium-vessel occlusions: technical considerations and outcomes

    Friday, July 04, 2025
    Author(s): Muhammed Amir Essibayi,Hamza Adel Salim,Melissa J Fazzari,Deepak Khatri,Amanda Baker,Basel Musmar,Nimer Adeeb,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard L L Yeo,Benjamin Y Q Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Yasmin Aziz,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Kareem El Naamani,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Vivek Yedavalli,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Tobias D Faizy,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,David J Altschul,MAD MT Investigators
    Source: Journal of neurosurgery
    CONCLUSIONS: PetH is a frequent sequela following MT in DMVO strokes and is associated with poorer outcomes, likely reflecting underlying ischemic injury rather than direct causation. Procedural factors influence PetH risk, suggesting medical treatment as first-line therapy for DMVOs, with MT reserved for refractory cases using less aggressive approaches.

  • Principles for Novel Neurologic Therapeutics: An AAN Position Statement

    Wednesday, June 25, 2025
    Author(s): Larry B Goldstein,Jonathan R Crowe,Anindita Deb,Justin T Jordan,Jonathan D Santoro,James J Sejvar,Madeline Turbes,Robert E Shapiro
    Source: Neurology
    This statement provides general principles of the American Academy of Neurology's (AAN) approach when invited to provide guidance to policymakers on a variety of types of therapies that may have neurologic treatment benefits, but for which available evidence is limited or for which there is no US Food and Drug Administration-approved indication. In these instances, the AAN recommends an approach in which the patient and neurologist carefully review all available evidence and discuss the...

  • Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS

    Tuesday, June 24, 2025
    Author(s): Michael E Bekier,Emile S Pinarbasi,Gopinath Krishnan,Jack J Mesojedec,Madelaine Hurley,Harisankar Harikumar Sheela,Catherine A Collins,Layla T Ghaffari,Martina de Majo,Erik M Ullian,Mark Koontz,Sarah Coleman,Xingli Li,Elizabeth Mh Tank,Jacob Waksmacki,Fen-Biao Gao,Sami J Barmada
    Source: The Journal of clinical investigation
    Cytoplasmic TDP43 mislocalization and aggregation are pathological hallmarks of amyotrophic lateral sclerosis (ALS). However, the initial cellular insults that lead to TDP43 mislocalization remain unclear. In this study, we demonstrate that Nemo-like kinase (NLK) - a proline-directed serine/threonine kinase - promotes the mislocalization of TDP43 and other RNA-binding proteins by disrupting nuclear import. NLK levels are selectively elevated in neurons exhibiting TDP43 mislocalization in ALS...

  • Restoring endogenous Dlg4/PSD95 expression by an artificial transcription factor ameliorates cognitive and motor learning deficits in the R6/2 mouse model of Huntington's disease

    Thursday, June 12, 2025
    Author(s): Germán Fernández,Kevin Leiva,Fernando J Bustos,Brigitte van Zundert
    Source: Clinical epigenetics
    CONCLUSION: This work validates Dlg4/PSD95 as a key player in the prodromal phase of HD pathology and establishes the ATF PSD95-6ZF-VP64 as an attractive therapeutic tool for treating the disease's early phase.

  • Paramagnetic rim lesions are highly specific for multiple sclerosis in real-world data

    Wednesday, June 11, 2025
    Author(s): Christopher C Hemond,Sathish K Dundamadappa,Mugdha Deshpande,Jonggyu Baek,Robert H Brown,Carolina Ionete,Daniel S Reich
    Source: Brain communications
    Paramagnetic rim lesions (PRLs) are an emerging biomarker for multiple sclerosis representing chronic, low-grade intraparenchymal brain inflammation. In addition to associating with greater disease severity, PRLs may be diagnostically supportive. Our aim in this study was to determine PRL specificity and sensitivity for discriminating multiple sclerosis from its diagnostic mimics using real-world clinical diagnostic and imaging data. This is a retrospective, cross-sectional analysis of a...

  • Editorial: Recent advances in diagnosis and treatment of brain tumors: from pediatrics to adults

    Wednesday, June 11, 2025
    Author(s): John Bianco,Dimitrios N Kanakis,Archya Dasgupta,Majaz Moonis,Cesare Zoia
    Source: Frontiers in neurology
    No abstract

  • The Essential Role of Medicaid in Duchenne Muscular Dystrophy Care: A Call to Protect Vulnerable Populations

    Thursday, June 05, 2025
    Author(s): Stephen Chrzanowski,Eleonora Silvana D'Ambrosio
    Source: Pediatric neurology
    CONCLUSION: As neuromuscular specialists at the UMass Duchenne Program, we see firsthand that Medicaid is not a luxury; it is the foundation that gives families hope for a better future. Children with DMD, as a protected and vulnerable population, cannot advocate for themselves. We must be their voice. Medicaid cuts are not merely a fiscal decision; they are a moral decision with life-altering consequences. We urge policymakers to protect Medicaid and safeguard the future of children living with...

  • Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype

    Thursday, May 29, 2025
    Author(s): Lisa L Hall,Kelly P Smith,Jeanne B Lawrence
    Source: Annual review of genomics and human genetics
    Collectively, various tandem and interspersed repetitive sequences make up approximately half the human genome, yet we have only begun to understand the potential functions of "junk" DNA. Here, we provide a brief overview of various types of repeats, but a full treatment of the repeat genome (repeatome) is beyond the scope of any review. Hence, we focus primarily on less established functions of a few major repeat classes, including pericentromeric satellites and abundant degenerate interspersed...

  • Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case series

    Sunday, May 25, 2025
    Author(s): Neil A Shneider,Matthew B Harms,Vlad A Korobeynikov,Olivia M Rifai,Benjamin N Hoover,Elizabeth A Harrington,Sonya Aziz-Zaman,Jessica Singleton,Arish Jamil,Vikram R Madan,Ikjae Lee,Jinsy A Andrews,Richard M Smiley,Mahabub M Alam,Lauren E Black,Minwook Shin,Jonathan K Watts,David Walk,Daniel Newman,Robert M Pascuzzi,Markus Weber,Christoph Neuwirth,Sandrine Da Cruz,Armand Soriano,Roger Lane,Scott Henry,Joel Mathews,Paymaan Jafar-Nejad,Dan Norris,Frank Rigo,Robert H Brown,Stephan Miller,Rebecca Crean,C Frank Bennett
    Source: Lancet (London, England)
    BACKGROUND: Pathogenic variants of fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (FUS-ALS), with evidence of gain of function. Jacifusen is an antisense oligonucleotide targeting FUS pre-mRNA, previously shown to delay neurodegeneration in a mouse model and potentially slow functional decline in a first-in-human study. Here, we sought to further evaluate use of jacifusen as a treatment for FUS-ALS.

  • Safety and efficacy of trehalose in amyotrophic lateral sclerosis (HEALEY ALS Platform Trial): an adaptive, phase 2/3, double-blind, randomised, placebo-controlled trial

    Friday, May 23, 2025
    Author(s): HEALEY ALS Platform Trial,HEALEY ALS Platform Trial Study Group
    Source: The Lancet. Neurology
    BACKGROUND: Trehalose is a disaccharide that activates autophagy pathways in animal models of neurodegenerative diseases, with the potential to catalyse clearance of toxic, misfolded proteins in motor neurons and slow disease progression in amyotrophic lateral sclerosis (ALS). We aimed to evaluate the safety and efficacy of trehalose in individuals with ALS.

  • A multicenter, propensity score-matched analysis of functional outcomes and recanalization success with or without Trevo for Medium and distal vessel occlusion

    Wednesday, May 21, 2025
    Author(s): James E Siegler,Manisha Koneru,Hamza Shaikh,Hamza Adel Salim,Basel Musmar,Nimer Adeeb,Vivek Yedavalli,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Jeremy J Heit,Robert W Regenhardt,Rami Z Morsi,Tareq Kass-Hout,Nicholas Vigilante,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Muhammed Amir Essibayi,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,Piers Klein,Mohamad Abdalkader,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Jane Khalife,Ankit Rana,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
    BackgroundEndovascular therapy (EVT) for stroke due to distal or medium vessel occlusion (DMVO) is safe. Due to the distinct anatomical characteristics of DMVOs, further evaluation of EVT is crucial to determine which devices may yield better outcomes.MethodsA retrospective analysis of adults with DMVO treated in 37 centers (11 countries) was queried. The primary outcome of favorable shift in 90-day modified Rankin Scale (mRS) was compared between patients treated with Trevo versus other devices...

  • RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice

    Sunday, May 11, 2025
    Author(s): Alexandra Weiss,James W Gilbert,Iris Valeria Rivera Flores,Jillian Belgrad,Chantal Ferguson,Elif O Dogan,Nicholas Wightman,Kit Mocarski,Dimas Echeverria,Ashley L Harkins,Ashley Summers,Brianna Bramato,Nicholas McHugh,Raymond Furgal,Nozomi Yamada,David Cooper,Kathryn Monopoli,Bruno M D C Godinho,Matthew R Hassler,Ken Yamada,Paul Greer,Nils Henninger,Robert H Brown,Anastasia Khvorova
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition, with 20% of familial and 2%-3% of sporadic cases linked to mutations in the cytosolic superoxide dismutase (SOD1) gene. Mutant SOD1 protein is toxic to motor neurons, making SOD1 gene suppression a promising approach, supported by preclinical data and the 2023 Federal Drug Administration (FDA) approval of the GapmeR ASO targeting SOD1, tofersen. Despite the approval of an ASO and the optimism it brings to the field, the...

  • Shared decision-making for multiple sclerosis using the MS-SUPPORT tool: a plain language summary

    Wednesday, May 07, 2025
    Author(s): Nananda F Col,Andrew J Solomon,Enrique Alvarez,Lori Pbert,Carolina Ionete,Idanis Berrios Morales,Jennifer Chester,Christen Kutz,Crystal Iwuchukwu,Terrie Livingston,Vicky Springmann,Hannah Col,Long Ngo
    Source: Neurodegenerative disease management
    No abstract

  • Current clinical applications of AAV-mediated gene therapy

    Wednesday, May 07, 2025
    Author(s): Barry J Byrne,Kevin M Flanigan,Susan E Matesanz,Richard S Finkel,Megan A Waldrop,Eleonora S D'Ambrosio,Nicholas E Johnson,Barbara K Smith,Carsten Bönnemann,Sean Carrig,Joseph W Rossano,Barry Greenberg,Laura Lalaguna,Enrique Lara-Pezzi,Sub Subramony,Manuela Corti,Claudia Mercado-Rodriguez,Carmen Leon-Astudillo,Rebecca Ahrens-Nicklas,Diana Bharucha-Goebel,Guangping Gao,Dominic J Gessler,Wuh-Liang Hwu,Yin-Hsiu Chien,Ni-Chung Lee,Sanford L Boye,Shannon E Boye,Lindsey A George
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Currently, there are an estimated 8,000 genetic disorders that cumulatively affect approximately 10% of the population. Even among the 5% of patients with genetic disease that have treatment options, these therapeutics rarely address the underlying cause of disease but rather focus on managing or modifying symptoms and typically require recurrent, lifelong therapy. A therapeutic approach to genetic disease that in vivo delivers a functional copy of the aberrant gene is an intuitive solution that...

  • Clinician and patient readiness to engage with community health workers at epilepsy care centers

    Wednesday, April 30, 2025
    Author(s): Felicia C Chu,Barbara C Jobst,Anna Murray,Trina Dawson,Christine F Frisard,Barbara Glidden,Sarah J Kaden,Elaine T Kiriakopoulos
    Source: Frontiers in neurology
    CONCLUSION: Despite limited understanding of CHW roles or firsthand experience with CHWs, clinician and patient readiness for integration of CHW was high, with a strong indication that clinicians would refer patients to a CHW and that patients felt the potential for health benefit if provided with assistance from a CHW.

  • Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1

    Monday, April 28, 2025
    Author(s): Lindsay N Alfano,Megan A Iammarino,Natalie F Reash,Linda P Lowes,Lindsay Pietruszewski,Kathleen Adderley,Lauren Humphrey,Audrey B Knight,Christopher L Steiner,Melissa A Smith,Zarife Sahenk,Anne M Connolly,Momen Almomen,Eleonora S D'Ambrosio,Nathan Peck,Allison Peck
    Source: Annals of clinical and translational neurology
    OBJECTIVE: Valosin-containing protein (VCP)-associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient-reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition,...

  • KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

    Friday, April 25, 2025
    Author(s): Arianna Manini,Rosario Vasta,Alberto Brusati,Francesco Scheveger,Silvia Peverelli,Alessio Maranzano,Alberto Doretti,Francesco Gentile,Eleonora Colombo,Maura Brunetti,Cristina Moglia,Antonio Canosa,Umberto Manera,Maurizio Grassano,Davide Gentilini,Stefano Messina,Federico Verde,Claudia Morelli,John E Landers,Bryan J Traynor,Adriano Chiò,Vincenzo Silani,Andrea Calvo,Antonia Ratti,Nicola Ticozzi
    Source: Annals of clinical and translational neurology
    This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015. No patients were homozygous (TT), allowing comparison between wild type and heterozygous carriers only. Heterozygous carriers showed faster disease progression (ALSFRS-R preslope). Findings were validated across both cohorts. Multiple...

  • A qualitative analysis of clinician perspectives on community health worker integration at epilepsy centers

    Thursday, April 24, 2025
    Author(s): Elaine T Kiriakopoulos,Barbara Jobst,Anna Murray,Carly Sykes,Suzanne Lenz,Trina Dawson,Sarah Kaden,Felicia Chu
    Source: Frontiers in neurology
    INTRODUCTION: Substantial evidence supports community health worker (CHW) interventions lead to improved health outcomes, but health professionals' perceptions of CHW roles and effectiveness may slow integration into care delivery systems. Research on CHWs as members of specialty care teams in clinical settings, especially in the epilepsy field, is limited.

  • Tolebrutinib versus Teriflunomide in Relapsing Multiple Sclerosis

    Wednesday, April 09, 2025
    Author(s): Jiwon Oh,Douglas L Arnold,Bruce A C Cree,Carolina Ionete,Ho Jin Kim,Maria Pia Sormani,Sana Syed,Yixin Chen,Christina R Maxwell,Patrick Benoit,Timothy J Turner,Erik Wallstroem,Heinz Wiendl,Tolebrutinib Phase 3 GEMINI 1 and 2 Trial Group
    Source: The New England journal of medicine
    CONCLUSIONS: Tolebrutinib was not superior to teriflunomide in decreasing annualized relapse rates among participants with relapsing multiple sclerosis. (Funded by Sanofi; GEMINI 1 and GEMINI 2 ClinicalTrials.gov numbers, NCT04410978 and NCT04410991, respectively.).

  • New Mouse Lines That Drive Tetracycline-Controlled Gene Expression in a Small Subset of Spinal Cord Dorsal Horn Neurons

    Tuesday, April 08, 2025
    Author(s): Eric Fyrberg,Heather Learnard,Soojin Lee,Yong-Woo Jun,Fen-Biao Gao
    Source: eNeuro
    Mouse lines with tetracycline-controlled gene expression in specific neuronal populations provide valuable tools for studying their development, function, connectivity, and pathology in vivo. Our initial goal was to generate a mouse model that could express amyotrophic lateral sclerosis-associated genes specifically in spinal cord motor neurons under the control of the HB9 promoter. However, HB9-tTA mice unexpectedly direct target gene expression in a small subset of dorsal horn neurons. These...

  • Incidence Trends and Risk of Recurrent Stroke of Cervical Artery Dissections in the United States Between 2005 and 2019

    Wednesday, April 02, 2025
    Author(s): Liqi Shu,Lukas Strelecky,Adam de Havenon,Thanh N Nguyen,Nils Henninger,Zafer Keser,Muhib Khan,James Ernest Siegler,Mary Penckofer,Setareh Salehi Omran,Thalia S Field,Lily Zhou,Han Xiao,Austin Jacobson,Eric D Goldstein,Christoph Stretz,Farhan Khan,Elizabeth Perelstein,Karen Furie,Shadi Yaghi
    Source: Neurology
    BACKGROUND AND OBJECTIVES: Cervical artery dissection (CeAD) is a common cause of acute ischemic stroke (AIS), especially in patients younger than 55 years, but data regarding trends and subsequent AIS risk after CeAD remain scarce. We aimed to determine national trends in CeAD admissions and examine post-CeAD risk of ischemic stroke.

  • Factors Associated With Stroke Recurrence After Initial Diagnosis of Cervical Artery Dissection

    Thursday, March 27, 2025
    Author(s): Daniel M Mandel,Liqi Shu,Christopher Chang,Naomi Jack,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 Touzé,Joao Andre Sousa,Joao Sargento-Freitas,Vasco Barata,Paulo Castro-Chaves,Maria Teresa Brito,Muhib Khan,Dania Mallick,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufman,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 Garcia,Varsha Muddasani,Adam de Havenon,Venugopalan Y Vishnu,Sridhara Yaddanapudi,Latasha Adams,Abigail Browngoehl,Tamra Ranasinghe,Randy Dunston,Zachary Lynch,Mary Penckofer,James E 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 Y Qureshi,Sebastian Fridman,Alonso Alvarado-Bolanos,Farid Khasiyev,Guillermo Linares,Marina Mannino,Valeria Terruso,Sofia Vassilopoulou,Vasileios Tentolouris-Piperas,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,Newnex Mongare,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,Shadi Yaghi
    Source: Stroke
    CONCLUSIONS: In this post hoc analysis of the STOP-CAD study, several factors associated with subsequent ischemic stroke were identified among patients with CAD. Furthermore, we identified a potential benefit of anticoagulation in patients with CAD with occlusive dissection. These findings require validation by meta-analyses of prior studies to formulate optimal treatment strategies for specific high-risk CAD subgroups.

  • Characteristics and Medication Use Patterns of Pregnancies With COVID-19 Ending in Live-Birth in the Sentinel System

    Wednesday, March 26, 2025
    Author(s): Mayura Shinde,Austin Cosgrove,Jennifer G Lyons,Maria E Kempner,Jolene Mosley,David Cole,Emma Hoffman,Elizabeth Messenger-Jones,José J Hernández-Muñoz,Danijela Stojanovic,Benedict H W Wong,Yueqin Zhao,Leyla Sahin,Susan E Andrade,Sengwee Toh,Wei Hua
    Source: Pharmacoepidemiology and drug safety
    CONCLUSIONS: In this retrospective evaluation, selected medication utilization was higher post-COVID-19 among pregnancies with COVID-19, compared to those without COVID-19 and to non-pregnancy episodes with COVID-19. However, the low use of COVID-19-specific medications underscores the need for a safety evaluation of therapies used for COVID-19 management in the pregnant population.

  • In-Hospital Mortality Prediction among Intensive Care Unit Patients with Acute Ischemic Stroke: A Machine Learning Approach

    Tuesday, March 18, 2025
    Author(s): Jack A Cummins,Ben S Gerber,Mayuko Ito Fukunaga,Nils Henninger,Catarina I Kiefe,Feifan Liu
    Source: Health data science
    Background: Acute ischemic stroke is a leading cause of death in the United States. Identifying patients with stroke at high risk of mortality is crucial for timely intervention and optimal resource allocation. This study aims to develop and validate machine learning-based models to predict in-hospital mortality risk for intensive care unit (ICU) patients with acute ischemic stroke and identify important associated factors. Methods: Our data include 3,489 acute ischemic stroke admissions to the...

  • CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,James D Berry,Nicholas J Maragakis,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Elijah W Stommel,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin J Felice,Zachary Simmons,Timothy Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney E McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Austin Rynders,Jacob Evan,Jeremy Evan,Alan Hartford,Marjan Sepassi,Karen S Ho,Robert Glanzman,Benjamin Greenberg,Michael T Hotchkin,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: No benefit of CNM-Au8 on ALS disease progression was observed at 24 weeks.

  • Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jeremy M Shefner,Björn Oskarsson,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Terry Heiman-Patterson,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,James B Caress,Andrea Swenson,Amanda Peltier,Richard A Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Melanie L Leitner,Kelly Chen,Y Paul Goldberg,Yael Cohen,Michal Geva,Michael R Hayden,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: In this 24-week study, pridopidine did not impact the progression of ALS.

  • Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jinsy Andrews,Sabrina Paganoni,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Eufrosina Young,Marianne Chase,Lindsay Pothier,Brittney Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Mariah R Connolly,James D Berry,Derek D'Agostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Daragh Heitzman,Senda Ajroud-Driss,Stanley H Appel,Sheetal Shroff,Jonathan Katz,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Stephen A Goutman,Nicholas Olney,Timothy Miller,Joseph Americo Fernandes,Hristelina Ilieva,Omar Jawdat,Michael D Weiss,Laura Foster,Tuan Vu,Shafeeq Ladha,Margaret Ayo Owegi,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Andrea Swenson,Terry Heiman-Patterson,James Caress,Dominic Fee,Amanda Peltier,Richard Lewis,Jeffrey Rosenfeld,David Walk,Kristin Johnson,Matthew Elliott,Edward J Kasarskis,Seward Rutkove,Courtney E McIlduff,Richard Bedlack,Lauren Elman,Namita A Goyal,Kourosh Rezania,Paul Twydell,Michael Benatar,Jonathan Glass,Jeffrey A Cohen,Vovanti Jones,Lindsay Zilliox,James P Wymer,Said R Beydoun,Jaimin Shah,Gary L Pattee,Jennifer Martinez-Thompson,Shakti Nayar,Volkan Granit,Mary Donohue,Katheryn Grossman,Daniel J Campbell,Irfan A Qureshi,Merit E Cudkowicz,Suma Babu
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: Results demonstrate that treatment with verdiperstat was unlikely to alter disease progression in ALS.

  • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

    Thursday, March 06, 2025
    Author(s): Seung Hoan Choi,Sean J Jurgens,Ling Xiao,Matthew C Hill,Christopher M Haggerty,Garðar Sveinbjörnsson,Valerie N Morrill,Nicholas A Marston,Lu-Chen Weng,James P Pirruccello,David O Arnar,Daniel Fannar Gudbjartsson,Helene Mantineo,Aenne S von Falkenhausen,Andrea Natale,Arnljot Tveit,Bastiaan Geelhoed,Carolina Roselli,David R Van Wagoner,Dawood Darbar,Doreen Haase,Elsayed Z Soliman,Giovanni E Davogustto,Goo Jun,Hugh Calkins,Jeffrey L Anderson,Jennifer A Brody,Jennifer L Halford,John Barnard,John E Hokanson,Jonathan D Smith,Joshua C Bis,Kendra Young,Linda S B Johnson,Lorenz Risch,Lorne J Gula,Lydia Coulter Kwee,Mark D Chaffin,Michael Kühne,Michael Preuss,Namrata Gupta,Navid A Nafissi,Nicholas L Smith,Peter M Nilsson,Pim van der Harst,Quinn S Wells,Renae L Judy,Renate B Schnabel,Renee Johnson,Roelof A J Smit,Stacey Gabriel,Stacey Knight,Tetsushi Furukawa,Thomas W Blackwell,Victor Nauffal,Xin Wang,Yuan-I Min,Zachary T Yoneda,Zachary W M Laksman,Connie R Bezzina,Alvaro Alonso,Bruce M Psaty,Christine M Albert,Dan E Arking,Dan M Roden,Daniel I Chasman,Daniel J Rader,David Conen,David D McManus,Diane Fatkin,Emelia J Benjamin,Eric Boerwinkle,Gregory M Marcus,Ingrid E Christophersen,J Gustav Smith,Jason D Roberts,Laura M Raffield,M Benjamin Shoemaker,Michael H Cho,Michael J Cutler,Michiel Rienstra,Mina K Chung,Morten S Olesen,Moritz F Sinner,Nona Sotoodehnia,Paulus Kirchhof,Ruth J F Loos,Saman Nazarian,Sanghamitra Mohanty,Scott M Damrauer,Stefan Kaab,Susan R Heckbert,Susan Redline,Svati H Shah,Toshihiro Tanaka,Yusuke Ebana,Regeneron Genetics Center,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Hilma Holm,Kari Stefansson,Christian T Ruff,Marc S Sabatine,Kathryn L Lunetta,Steven A Lubitz,Patrick T Ellinor
    Source: Nature genetics
    Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B. We further identified associations between AF and rare structural variants owing to deletions in CTNNA3 and duplications...

  • Minimal clinical impact of embolization to new territory on outcomes in medium vessel occlusion strokes treated with mechanical thrombectomy: a retrospective multicenter study

    Wednesday, March 05, 2025
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Dhairya A Lakhani,Fathi Milhem,Basel Musmar,Nimer Adeeb,Tobias D Faizy,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Inayat Grewal,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy Josef Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSIONS: ENT during MT for MeVO stroke occurs infrequently and does not significantly affect the clinical outcomes. These findings suggest ENT risk should not deter clinicians from performing MT in patients with MeVO. Further prospective studies are needed to validate these results.

  • Psychosocial Burden and Suicidality in Epilepsy: A Public Health Concern

    Monday, March 03, 2025
    Author(s): Elaine T Kiriakopoulos,Felicia Chu,Jay Salpekar,Gaston Baslet,Gena Ghearing,Hamada Altalib,Martha Sajatovic
    Source: Epilepsy currents
    The increased risk for psychosocial burden and suicidality in people with epilepsy compared to the general population is a well-established global public health concern. Suicidality risk is also increased in patients with functional seizures. The timely identification of patients at highest risk for psychosocial burden and self-harm is vital. This can pose a significant challenge for multidisciplinary clinicians caring for people with epilepsy. Early identification of social stressors and...

  • Association of Statin Therapy with Functional Outcomes and Survival in Intracerebral and Subarachnoid Hemorrhage

    Tuesday, February 25, 2025
    Author(s): Bahadar S Srichawla,Daksha Gopal,Majaz Moonis
    Source: Neurology international
    Background/Objectives: Intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) are severe forms of stroke with high morbidity and mortality rates. HMG-CoA reductase inhibitors, commonly referred to as statins, known for their lipid-lowering abilities, also possess pleiotropic properties, including anti-inflammatory and neuroprotective effects. We aimed to evaluate the impact of statin therapy on the functional outcomes and survival in patients with ICH and SAH. Methods: This...

  • Central-variant posterior reversible encephalopathy syndrome in association with adrenal insufficiency: A case report

    Monday, February 24, 2025
    Author(s): Bahadar S Srichawla,Vincent Kipkorir,Rakhee Lalla
    Source: Medicine
    RATIONALE: Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition often linked to hypertension, eclampsia, or renal failure. PRES typically presenting with seizures, headaches, visual disturbances, and altered mental status. A rarer form, the central variant of PRES, involves atypical radiologic findings such as edema in central brain structures. PRES has not been previously associated with adrenal insufficiency, making this case novel and significant.

  • The clinical and radiographic features of eastern equine encephalitis: A single-center retrospective case series

    Wednesday, February 19, 2025
    Author(s): Maria A Garcia-Dominguez,Majaz Moonis,Vincent Kipkorir,Bahadar S Srichawla
    Source: Medicine
    RATIONALE: This case series aims to describe the clinical and radiographic findings associated with eastern equine encephalitis (EEE) virus.

  • Intravenous Thrombolysis in Cervical Artery Dissection-Related Stroke: A Nationwide Study

    Wednesday, February 19, 2025
    Author(s): Liqi Shu,Elizabeth Lee,Thalia S Field,Xiaofan Guo,Nils Henninger,Zafer Keser,Muhib Khan,Eva A Mistry,Thanh N Nguyen,James E Siegler,Lukas Strelecky,Daniel M Mandel,Christoph Stretz,Karen L Furie,Shadi Yaghi
    Source: Journal of the American Heart Association
    CONCLUSIONS: IVT improves the likelihood of home discharge in patients with CeAD-AIS without increasing the risk of inpatient death or intracerebral hemorrhage.

  • Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

    Monday, February 17, 2025
    Author(s): Sabrina Paganoni,Christina N Fournier,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Senda Ajroud-Driss,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Jeremy M Shefner,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek Dagostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James B Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Brittany Harvey,Shital Patel,Paul Mahoney,Petra W Duda,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA network open
    CONCLUSIONS AND RELEVANCE: In this randomized clinical trial of zilucoplan in ALS, treatment did not alter disease progression. The adaptive platform design of the HEALEY ALS Platform Trial made it possible to test a new investigational product with efficient use of time and resources.