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Publication Spotlights

 

Congratulations on our team's most recent publication achievements!

October 2025

Ozgun Uyan, first author, with Nicholas Wightman and Robert H. Brown Jr., MD, DPhil, authors of the October 2025 publication in BioRxiv Journal, titled, Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neurons 

September 2025

Eric C. Larsen, Jennifer E. Moon, Oliver D. King, PhD, and Jeanne B. Lawrence, PhD, authors of the September 2025 publication in BioRxiv Journal, titled, Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B 

Anindita Deb, MD, last author of the September 2025 publication in Journal of Clinical and Translational Science, Cambridge Core, titled, Implementation and preliminary evaluation of an entrepreneurship, biomedical innovation, and design pathway in a school of medicine curriculum 

August 2025

Nikhil Lele,Sathish K Dundamadappa,Christopher C Hemond, MD, of the August 2025 publication in Sage Journals, titled, Deep cervical lymph node volume decreases following B-cell depletion therapy

July 2025

Bahadar Srichawla, DO, MS, Maria Garcia-Dominguez, MD, and Brian Silver, MD, of the July 2025 publication in Neurology International, titled, The Central Variant of Posterior Reversible Encephalopathy Syndrome: A Systematic Review and Meta-Analysis.

Thomas Ford, MD, Brian Silver, MD, of the July 2025 publication in Neurology, titled, Noncontrast Head CT Alone vs CT Perfusion in Basilar Artery Occlusion Thrombectomy: Sometimes Less Is Just as Good.

Katelyn Daman, PhD, first author, Jing Yan, and Charles Emerson Jr, PhD, last author, of the July 2025 publication in Molecular Therapy, Methods & Clinical Development, titled, A systemically delivered lipid-conjugated siRNA targeting DUX4 as a facioscapulohumeral muscular dystrophy therapeutic.

Access to the PubMed list of publications

Total: displaying 15 out of 50 results

  • Impaired Perfusion and Early Ischemic Stroke Recurrence in Symptomatic Intracranial Atherosclerosis: BIORISK ICAS Study

    Thursday, October 23, 2025
    Author(s): Shadi Yaghi,Farhan Khan,Skylar Lewis,Ava Stipanovich,Richard Choi,Richard Baker,Sami Al Kasab,Ahmad Abu Qdais,Sridhara S Yaddanapudi,Sabiha Sultana,Muhib Khan,Maarij Malik,James Klaas,Ekaterina Bakradze,Muhammad Aemaz Ur Rehman,Christopher Leon Guerrero,Hadley Walsh Ressler,Faddi G Saleh Velez,Cameron Owens,Camila Bonin Pinto,Margy McCullough-Hicks,Dawson Cooper,Abhiram Parameswaran Pillai,Praveen Hariharan,Shaista Alam,Morgan Mayer,Mirjam R Heldner,Irina Kugler,Kateryna Antoneko,William Almiri,Sheila Martins,Thais L Secchi,Gabriel Mantovani,Aaron Rothstein,Kelly Sloane,Balaji Krishnaiah,Linda Alfred,Cheran Elangovan,Venugopalan Y Vishnu,Meena Chandu,Ayush Agarwal,Michele Romoli,Nicola Marrone,Stefano Vozzi,Malik Ghannam,Mohamed Elshikh,Mahmoud Dibas,Yan Hou,Krithika Peshwe,Ajay Tunguturi,João Pedro Marto,Rui Duarte Armindo,Jennifer Frontera,Lindsey Kuohn,Mohammad AlMajali,Osama O Zaidat,Benan Barakat,Niha Khan,Alexis N Simpkins,Shayak Sen,Mariana Coelho,Joao Sargento Fritas,Joao Andre Sousa,Diana Aguiar de Sousa,Mafalda Soares,Amanda Lima,Aditya Jhaveri,Rami Z Morsi,James Siegler,Yasmin N Aziz,Pablo Harker,Sonia Bhati,Sophia Vassilopoulou,Argyro Tountopoulou,Adam de Havenon,Varsha Muddasani,Nils Henninger,Hieu Tran,Johanna Helenius,Mohammad Khasawneh,Ananth Vellimana,Ryan Apfel,Amir Molaie,Marina Mannino,Valeria Terruso,Tarek El Halabi,Mahasen Reda,Christel Tamer,Piers Klein,Liqi Shu,Pooja Khatri,Karen Furie,Thanh N Nguyen,David S Liebeskind,Shyam Prabhakaran
    Source: Stroke
    CONCLUSIONS: Biomarkers of impaired distal perfusion, anterior circulation borderzone infarct, and hypoperfusion mismatch were associated with increased risk of recurrent ischemic stroke. These findings support the use of perfusion imaging in ICAS as well as future trials investigating early reperfusion in high-risk patients with ICAS.

  • Innovating the practice of epilepsy care to improve patient outcomes: a model for community health worker integration

    Thursday, October 23, 2025
    Author(s): Elaine T Kiriakopoulos,Felicia Chu,Barbara C Jobst,Rosemarie Kobau
    Source: Frontiers in neurology
    There is substantial evidence that community health worker (CHW) interventions can lead to improved health outcomes. However, their integration into specialty care teams-particularly within epilepsy care-is still limited. Embedding CHWs onto epilepsy center teams presents a promising opportunity to address health inequities by incorporating whole-person patient centered care and addressing social determinants of health (SDOH). The conceptual model introduced in this manuscript highlights the...

  • Fazekas score predicts cognitive decline & frailty in older adults: insights from the SAGE-AF cohort study

    Wednesday, October 22, 2025
    Author(s): Bahadar S Srichawla,Melanie K Barbini,Darleen Lessard,Jane S Saczynski,David D McManus,Majaz Moonis
    Source: Neurological research and practice
    CONCLUSION: Higher Fazekas scores are related to cognitive decline and frailty in older adults with AF, emphasizing WMH as a critical biomarker for aging-related impairments. Neuroimaging tools like Fazekas scoring could enhance risk stratification and inform targeted interventions for this vulnerable population.

  • SIRT1 in Aging and Diseases

    Thursday, October 16, 2025
    Author(s): Altaf A Abdulkhaliq,Glowi Alasiri,Johra Khan,Amir Ajoolabady,Jaakko Tuomilehto,Nils Henninger,Suhad Bahijri,Domenico Pratico,Anwar Borai,Bahauddeen M Alrfaei,Bonglee Kim,Jun Ren
    Source: Journal of cellular biochemistry
    Sirtuin 1 (SIRT1) is a NAD^(+)-dependent deacetylase belonging to the sirtuin family, which regulates a broad spectrum of cellular processes through deacetylation of both histones in the nucleus and non-histone proteins in the cytosol. Accumulating evidence indicates that biological aging is associated with a marked decline in the expression and activation of SIRT1/SIRT1, which contributes to the onset and progression of various age-related diseases. Conversely, activation of SIRT1 has been...

  • A next-generation HDAC6 inhibitor for amyotrophic lateral sclerosis and frontotemporal dementia

    Wednesday, October 08, 2025
    Author(s): Rebecca E James,Michael Bekier,Pin-Tsun Justin Lee,Frederick A Schroeder,Lauren T Evans,Florence F Wagner,Dean Hickman,Tom Richardson,Theo Hatzipetros,Fernando Vieira,Noëlle Callizot,Souvik Modi,Jacob M Hooker,Janice E Kranz,Robert H Brown,Sami J Barmada,Tonya M Gilbert
    Source: Brain : a journal of neurology
    Dysregulated proteostasis and intracellular transport contribute to neurodegeneration. HDAC6, a therapeutic target of interest for neurodegenerative diseases, acts at a nexus modulating both proteostasis and intracellular transport. Inhibition of HDAC6 deacetylase activity promotes autophagic clearance of protein aggregates and increases ⍺-tubulin acetylation, thereby enhancing microtubule resiliency and motor protein-microtubule binding, which facilitates intracellular transport and,...

  • Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neurons

    Friday, October 03, 2025
    Author(s): Özgün Uyan,Snehal Sambare,Marlies E Oomen,Nicholas Wightman,Allana Schooley,Joseph R Klim,Houda Belaghzal,Özkan Aydemir,Betul Akgol-Oksuz,Zeynep Sena Agim Uslu,Kevin Eggan,Robert H Brown,Job Dekker
    Source: bioRxiv : the preprint server for biology
    We have investigated changes in chromosome conformation, nuclear organization, and transcription during differentiation and maturation of control and mutant motor neurons harboring hexanucleotide expansions in the C9orf72 gene that cause amyotrophic lateral sclerosis (ALS). Using an in vitro reprogramming, differentiation and neural maturation protocol, we obtained highly purified populations of post-mitotic motor neurons for both normal and diseased cells. As expected, as fibroblasts are...

  • Boldine as a neuroprotective agent against motor neuron degeneration in models of amyotrophic lateral sclerosis

    Thursday, October 02, 2025
    Author(s): Carlos A Toro,Wei Zhao,Patricio Garcia Silva,Daniela Retamal-Santibáñez,Fabiola Rojas,Jiangping Pan,Nicholas Johnson,Yorley Duarte,Christopher P Cardozo,Juan C Sáez,Brigitte van Zundert
    Source: Frontiers in cellular neuroscience
    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by motor neuron loss. Current FDA-approved treatments offer only modest benefits. Connexins (Cx), proteins that mediate intercellular communication have emerged as potential therapeutic targets, with increased Cx hemichannel (HC) activity observed in ALS models, and blocking Cx HC activity prevents motor neuron loss in vitro. Boldine, a natural compound with both Cx HC-blocking and antioxidant...

  • Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep

    Tuesday, September 30, 2025
    Author(s): Toloo Taghian,Jillian Gallagher,Stephanie Bertrand,William C Baker,Kalajan Lopez Mercado,Hector R Benatti,Erin Hall,Yvette Lopez,Abigail McElroy,John T McCarthy,Sanjana Pulaparthi,Deborah Fernau,Samuel Mather,Sophia Esteves,Elise Diffie,Amanda Gross,Hannah G Lahey,Xuntian Jiang,Elizabeth Parsley,Rachael Gately,Rachel Prestigiacomo,Siauna Johnson,Amanda Taylor,Lindsey Bierfeldt,Susan Tuominen,Jennifer Koehler,Guangping Gao,Jun Xie,Qin Su,Robert King,Matthew J Gounis,Vania Anagnostakou,Ajit Puri,Ana Rita Batista,Miguel Sena-Esteves,Douglas R Martin,Heather Gray-Edwards
    Source: The Journal of clinical investigation
    Tay-Sachs and Sandhoff disease are fatal neurodegenerative diseases without an effective therapy that are caused by mutations in the HEXA and HEXB genes, respectively. Together they encode the heterodimeric isozyme of hexosaminidase (HexA) that degrades GM2 ganglioside. This report describes a 5 year-long study using a bidirectional AAV9 vector (AAV9-Bic_HexA/HexB) encoding both HEXA and HEXB in the Tay-Sachs sheep model. Bidirectional AAV9 was delivered intravenously or through various cerebral...

  • Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B

    Friday, September 26, 2025
    Author(s): Eric C Larsen,Jennifer E Moon,Oliver D King,Jeanne B Lawrence
    Source: bioRxiv : the preprint server for biology
    Polymorphisms that affect chr21 gene expression have significance for both variable severity in Down syndrome and common multifactorial conditions. Results here demonstrate "selective homolog silencing" in cells from even one individual can provide a valuable complement to large studies. In trisomic iPSC subclones that silence different chr21 homologs (via XIST-based silencing), we discovered unusually large, homolog-specific, differences in RWDD2B in iPSCs, cortical organoids and endothelial...

  • Implementation and preliminary evaluation of an entrepreneurship, biomedical innovation, and design pathway in a school of medicine curriculum

    Monday, September 22, 2025
    Author(s): Nathaniel Hafer,Christian Keenan,Anindita Deb
    Source: Journal of clinical and translational science
    New educational curricula are emerging to train physicians for healthcare in the 21^(st) century. The University of Massachusetts Chan Medical School T.H. Chan School of Medicine (UMass Chan) implemented an MD curriculum redesign in the fall of 2022 that included seven educational pathways, including Entrepreneurship, Biomedical Innovation, and Design. This new pathway curriculum introduces students to the principles of innovation, entrepreneurship, basic engineering principles, and technology...

  • Physical Activity and Stroke Incidence among Postmenopausal Women: Insights from the Women's Health Initiative

    Thursday, September 18, 2025
    Author(s): Ganesh Asaithambi,Brian Silver,Anne-Marie Meyer,Kelly R Evenson,Connor R Miller,Tracy E Madsen,Sylvia Wassertheil-Smoller,Monik C Botero,Marcia L Stefanick,Michael J LaMonte
    Source: Neuroepidemiology
    CONCLUSION: Increased recreational PA, particularly moderate, with cautious interpretation of vigorous activity due to its J-shaped association and potential risks, is associated with reduced risks of total and ischemic stroke in postmenopausal women. Our findings support promoting PA as a key strategy for stroke prevention in this population.

  • Factors associated with early neurological deterioration in minor distal medium vessel acute ischemic stroke: A multinational multicenter study

    Tuesday, September 16, 2025
    Author(s): Dhairya A Lakhani,Hamza Adel Salim,Vivek Yedavalli,Basel Musmar,Fathi Milhem,Nimer Adeeb,Tobias D Faizy,Motaz Daraghma,Kareem El Naamani,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,Nicole M Cancelliere,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,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 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,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: International journal of stroke : official journal of the International Stroke Society
    CONCLUSION: MT was associated with END in patients with minor AIS-DMVO, although this association was not significant after IPTW adjustment. IVT was independently associated with reduced risk of END. These findings support careful patient selection and further study in randomized trials.

  • GNAQ mutation in primary spinal melanoma: illustrative case

    Monday, September 15, 2025
    Author(s): Cristina Hayes Meizoso,Janelle P Renterghem,Constance J Mietus,Brittany Owusu-Adjei,Thomas W Smith,David Cachia,Ali Tasneem,Arno S Sungarian
    Source: Journal of neurosurgery. Case lessons
    BACKGROUND: Primary melanoma in the spine is a rare tumor characterized by lack of primary dermal or uveal lesions. The infrequency of this tumor significantly obfuscates both its diagnosis and treatment.

  • Deep cervical lymph node volume decreases following B-cell depletion therapy

    Thursday, August 28, 2025
    Author(s): Nikhil Lele,Sathish K Dundamadappa,Christopher C Hemond
    Source: Multiple sclerosis journal - experimental, translational and clinical
    The deep cervical lymph nodes (dCLNs) are sites of immune presentation and B-cell maturation from the brain, and potentially involved in mechanisms of neuroinflammation. We hypothesized a reduction in dCLN volume following B-cell depletion therapy. In a retrospective cohort, we segmented bilateral dCLN from T2-FLAIR MRI at "prebaseline," "baseline," and "post-B-cell depletion" timepoints. Using a multivariable mixed-effect regression model, we find no changes in dCLN volumes between prebaseline...

  • Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

    Thursday, August 28, 2025
    Author(s): Jarosław Dulski,Arun K Boddapati,Barbara Risi,Pablo Iruzubieta,Antonio Orlacchio,Roberto Fernández-Torrón,Tamara Castillo-Triviño,Adolfo López de Munain,Steve Vucic,Alessandro Padovani,Laura Donker Kaat,Tahsin Stefan Barakat,Leonard Petrucelli,Mercedes Prudencio,John E Landers,Jochen H Weishaupt,Andreas Prokop,Massimiliano Filosto,Zbigniew K Wszolek,Devesh C Pant
    Source: HGG advances
    KIF5A (Kinesin family member 5A) is a motor protein that functions as a key component of the axonal transport machinery. Variants in KIF5A are linked to several neurodegenerative diseases, mainly spastic paraplegia type 10 (SPG10), Charcot-Marie-Tooth disease type 2 (CMT2), and amyotrophic lateral sclerosis (ALS). These diseases share motor neuron involvement but vary significantly in clinical presentation, severity, and progression. KIF5A variants are mainly categorized into N-terminal variants...

  • 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.

  • Epigenetic clocks and longitudinal plasma biomarkers of Alzheimer's disease

    Wednesday, August 20, 2025
    Author(s): Bowei Zhang,Linda K McEvoy,Steve Nguyen,Mark A Espeland,Stephen R Rapp,Steve Horvath,Ake Lu,Andrea Z LaCroix,Caroline M Nievergelt,Adam X Maihofer,Susan M Resnick,Michelle M Mielke,Kenneth Beckman,Danni Li,Brian Silver,JoAnn E Manson,Luigi Ferrucci,Aladdin H Shadyab
    Source: medRxiv : the preprint server for health sciences
    INTRODUCTION: Chronological age is the strongest risk factor for Alzheimer's disease and related dementias (ADRD). However, the association of accelerated biological aging relative to chronological age with ADRD pathology is unclear.

  • 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 J 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 Pinarbasi,Gopinath Krishnan,Jack J Mesojedec,Madelaine Hurley,Harisankar Harikumar Sheela,Catherine A Collins,Layla 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 transactive response DNA-binding protein 43 (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 were selectively elevated in...

  • 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.).