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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/ 

October 2024

Author(s), Adalia Jun-O'Connell, Brian Silver, Eliza Grigoriciuc, Akanksha Gulati, Kimiyoshi J Kobayashi, Nils Henninger, last author of the October 2024 publication in Neurology Clinical Practice journal titled, Association between LACE+ Index Risk Category and 90-Day Mortality After Stroke

Authors, Lisa L Hall,Kevin M Creamer,Meg Byron,Jeanne B Lawrence of the October 2024 publication in Nucleas journal titled, Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture

Author, Christopher C Hemond, first author of the October 2024 publication in MedRxiv journal titled, Paramagnetic Rim Lesions are Highly Specific for Multiple Sclerosis in Real-World Data

Authors, Drs. Bahadar Srichawla, Maria A Garcia-Dominguez, of the October 2024 publication in World Journal of Clinical Cases titled, Spectrum of delayed post-hypoxic leukoencephalopathy syndrome: A systematic review

Author, Marcey Osgood, MD, first author of the October 2024 publication in Neurology Education journal titled, Curriculum Innovations: Enhancing Skills in Serious Illness Communication in Neurology Residents Using Simulation

September 2024

Author, Kara Smith, MD, last author of the September 2024 publication in The Journal of Speech, Language, and Hearing Research titled, Variability in Vowel Space in Parkinson's Disease: Association of Cognitive and Motor Impairment

Author, Sheldon Benjamin, MD, of the Winter 2024 publication in September 2024, in Neuropsychiatry of Clinical Neuroscience titled, Dual Residency Training in Neurology and Psychiatry: History and Current Practice - PubMed (nih.gov)

Author, Carolina Ionete, MD, PhD, last author of the September 2024 publication in Scientific Reports titled, Targeted proteomics of cerebrospinal fluid in treatment naive multiple sclerosis patients identifies immune biomarkers of clinical phenotypes

Author, Nils Henninger, MD, PhD, co-author of the upcoming September 2024 publication in Journal of Stroke and Cerebrovascular Diseases titled, "Risk factors for MACE and bleeding in atrial fibrillation patients undergoing surgery: Insights from the bridge trial."

August 2024

Author, Brenda Wong, MD, last author of the August 2024 publication in Muscle and Nerve Journal titled, "Appendicular lean mass index and motor function in ambulatory patients with Duchenne muscular dystrophy."

Author, Christopher Hemond, MD, first author of the August 2024 publication in Neuroimaging Clinics in North America titled, "New Imaging Markers in Multiple Sclerosis and Related Disorders: Smoldering Inflammation and the Central Vein Sign."

July 2024

Authors, Kevin Houston, OD, AM Barrett, MD, of the July 2024 publication was picked up by The Conversation,  titled, "Stroke survivors may be saddled with an invisible disability known as spatial neglect - but a simple treatment offers significant improvement."

Author, John Landers, PhD, last author of the July 2024 publication in Nature Genetics Journal titled, "Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease."

Author, Nils Henninger, MD, PhD, last author of the July 2024 publication in American Journal of Neuroradiology (AJNR) titled, "Hypoperfusion Intensity Ratio Is Associated with Early Neurologic Deficit Severity and Deterioration after Mechanical Thrombectomy in Large-Vessel Occlusion Ischemic Stroke."

Access to the PubMed list of publications

Total: displaying 15 out of 50 results

  • Quantifying and mitigating motor phenotypes induced by antisense oligonucleotides in the central nervous system

    sábado, octubre 26, 2024
    Author(s): Michael P Moazami,Julia M Rembetsy-Brown,Samantha L Sarli,Holly R McEachern,Feng Wang,Masahiro Ohara,Atish Wagh,Karen Kelly,Pranathi Meda Krishnamurthy,Alexandra Weiss,Miklos Marosfoi,Robert M King,Mona Motwani,Heather Gray-Edwards,Katherine A Fitzgerald,Robert H Brown,Jonathan K Watts
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Antisense oligonucleotides (ASOs) are emerging as a promising class of therapeutics for neurological diseases. When injected directly into cerebrospinal fluid, ASOs distribute broadly across brain regions and exert long-lasting therapeutic effects. However, many phosphorothioate (PS)-modified gapmer ASOs show transient motor phenotypes when injected into the cerebrospinal fluid, ranging from reduced motor activity to ataxia or acute seizure-like phenotypes. Using a behavioral scoring assay...

  • Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death

    viernes, octubre 25, 2024
    Author(s): Pablo Martínez,Mónica Silva,Sebastián Abarzúa,María Florencia Tevy,Enrique Jaimovich,Martha Constantine-Paton,Fernando J Bustos,Brigitte van Zundert
    Source: Molecular medicine (Cambridge, Mass.)
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of motoneurons (MNs), and despite progress, there is no effective treatment. A large body of evidence shows that astrocytes expressing ALS-linked mutant proteins cause non-cell autonomous toxicity of MNs. Although MNs innervate muscle fibers and ALS is characterized by the early disruption of the neuromuscular junction (NMJ) and axon degeneration, there are controversies about whether muscle...

  • Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

    martes, octubre 22, 2024
    Author(s): Sara Saez-Atienzar,Cleide Dos Santos Souza,Ruth Chia,Selina N Beal,Ileana Lorenzini,Ruili Huang,Jennifer Levy,Camelia Burciu,Jinhui Ding,J Raphael Gibbs,Ashley Jones,Ramita Dewan,Viviana Pensato,Silvia Peverelli,Lucia Corrado,Joke J F A van Vugt,Wouter van Rheenen,Ceren Tunca,Elif Bayraktar,Menghang Xia,International ALS Genomics Consortium,ITALSGEN Consortium,SLAGEN Consortium,Project MinE ALS Sequencing Consortium,Alfredo Iacoangeli,Aleksey Shatunov,Cinzia Tiloca,Nicola Ticozzi,Federico Verde,Letizia Mazzini,Kevin Kenna,Ahmad Al Khleifat,Sarah Opie-Martin,Flavia Raggi,Massimiliano Filosto,Stefano Cotti Piccinelli,Alessandro Padovani,Stella Gagliardi,Maurizio Inghilleri,Alessandra Ferlini,Rosario Vasta,Andrea Calvo,Cristina Moglia,Antonio Canosa,Umberto Manera,Maurizio Grassano,Jessica Mandrioli,Gabriele Mora,Christian Lunetta,Raffaella Tanel,Francesca Trojsi,Patrizio Cardinali,Salvatore Gallone,Maura Brunetti,Daniela Galimberti,Maria Serpente,Chiara Fenoglio,Elio Scarpini,Giacomo P Comi,Stefania Corti,Roberto Del Bo,Mauro Ceroni,Giuseppe Lauria Pinter,Franco Taroni,Eleonora Dalla Bella,Enrica Bersano,Charles J Curtis,Sang Hyuck Lee,Raymond Chung,Hamel Patel,Karen E Morrison,Johnathan Cooper-Knock,Pamela J Shaw,Gerome Breen,Richard J B Dobson,Clifton L Dalgard,American Genome Center,Sonja W Scholz,Ammar Al-Chalabi,Leonard H van den Berg,Russell McLaughlin,Orla Hardiman,Cristina Cereda,Gianni Sorarù,Sandra D'Alfonso,Siddharthan Chandran,Suvankar Pal,Antonia Ratti,Cinzia Gellera,Kory Johnson,Tara Doucet-O'Hare,Nicholas Pasternack,Tongguang Wang,Avindra Nath,Gabriele Siciliano,Vincenzo Silani,Ayşe Nazlı Başak,Jan H Veldink,William Camu,Jonathan D Glass,John E Landers,Adriano Chiò,Rita Sattler,Christopher E Shaw,Laura Ferraiuolo,Isabella Fogh,Bryan J Traynor
    Source: Cell genomics
    Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal death remains elusive, and this lack of knowledge hampers the development of therapy for C9orf72-related disease. We used an agnostic approach based on genomic data (n = 41,273 ALS and healthy samples, and n = 1,516 C9orf72 carriers) to overcome these...

  • Phenotyping in vivo chronic inflammation in multiple sclerosis by combined 11C-PBR28 MR-PET and 7T susceptibility-weighted imaging

    martes, octubre 22, 2024
    Author(s): Constantina A Treaba,Elena Herranz,Valeria T Barletta,Ambica Mehndiratta,Jacob A Sloane,Tobias Granberg,Alessandro Miscioscia,Roberto Bomprezzi,Marco L Loggia,Caterina Mainero
    Source: Multiple sclerosis (Houndmills, Basingstoke, England)
    CONCLUSION: ^(11)C-PBR28 imaging reveals more active WM lesions than 7T PRL assessment. Although PRL and PET active lesion counts are related, neurological disability is better explained by PET whole active lesion volume.

  • Development and Validation of a Clinical Score to Predict Epilepsy After Cerebral Venous Thrombosis

    lunes, octubre 21, 2024
    Author(s): Erik Lindgren,Liqi Shu,Naaem Simaan,Katarzyna Krzywicka,Maria A de Winter,Mayte Sánchez van Kammen,Jeremy Molad,Piers Klein,Hen Hallevi,Rani Barnea,Mirjam R Heldner,Sini Hiltunen,Diana Aguiar de Sousa,José M Ferro,Antonio Arauz,Jukka Putaala,Marcel Arnold,Thanh N Nguyen,Christoph Stretz,Turgut Tatlisumak,Katarina Jood,Shadi Yaghi,Ronen R Leker,Jonathan M Coutinho,DIAS research collaboration,Maryam Mansour,Patrícia Canhão,Esme Ekizoglu,Miguel Rodrigues,Elisa M Silva,Carlos Garcia-Esperon,Valentina Arnao,Shorooq Aladin,Rom Mendel,Paolo Aridon,Mine Sezgin,Andrey Alasheev,Andrey Smolkin,Daniel Guisado-Alonso,Nilufer Yesilot,Miguel A Barboza,Masoud Ghiasian,Suzanne M Silvis,Ton Fang,James E Siegler,Teddy Wu,Duncan Wilson,Syed Daniyal Asad,Sami Al Kasab,Eyad Almallouhi,Jennifer Frontera,Aaron Rothstein,Ekaterina Bakradze,Setareh Salehi Omran,Nils Henninger,Lindsey Kuohn,Adeel Zubair,Richa Sharma,Deborah Kerrigan,Yasmin Aziz,Eva Mistry,Susanna M Zuurbier
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: The DIAS3 score (freely available online) is a simple tool that can help predict the risk of post-CVT epilepsy in individual patients. The model can improve opportunities for personalized medicine and may aid in decision-making regarding antiseizure medication, patient counseling, and facilitation of research on epileptogenesis in CVT.

  • Endovascular therapy versus medical management in isolated posterior cerebral artery acute ischemic stroke: A multinational multicenter propensity score-weighted study

    lunes, octubre 21, 2024
    Author(s): Hamza Adel Salim,Benjamin Pulli,Vivek Yedavalli,Basel Musmar,Nimer Adeeb,Dhairya Lakhani,Muhammed Amir Essibayi,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Inayat Grewal,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,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,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,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,Max Wintermark,Adrien Guenego,Adam A Dmytriw
    Source: European stroke journal
    CONCLUSION: EVT for iPCAo is associated with better neurological outcomes and lower mortality compared to MM, without an increased risk of hemorrhagic complications. Nevertheless, these results should be interpreted with caution due to the study's observational design. The findings are hypothesis-generating and highlight the need for future randomized controlled trials to confirm these observations and establish definitive treatment guidelines for this patient population.

  • Correction: Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Goals-of-Care and Family/Surrogate Decision-Maker Data

    martes, octubre 15, 2024
    Author(s): Matthew N Jaffa,Hannah L Kirsch,Claire J Creutzfeldt,Mary Guanci,David Y Hwang,Darlene LeTavec,Dea Mahanes,Girija Natarajan,Alexis Steinberg,Darin B Zahuranec,Susanne Muehlschlegel,Curing Coma Campaign Collaborators
    Source: Neurocritical care
    No abstract

  • Outcomes and Recurrence Rates Among Patients With Provoked and Cryptogenic Cerebral Venous Thrombosis: Analysis of the ACTION CVT

    lunes, octubre 14, 2024
    Author(s): Sami Al Kasab,Eyad Almallouhi,Liqi Shu,Kimberly P Kicielinski,Setareh Salehi Omran,David S Liebeskind,Adeel S Zubair,Maria C Vedovati,Maurizio Paciaroni,Kateryna Antonenko,Mirjam R Heldner,Adam de Havenon,Nils Henninger,Shadi Yaghi
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: Cerebral venous thrombosis (CVT) is a rare cause of stroke. While the standard treatment is anticoagulation, the type and duration of anticoagulation depends on the underlying etiology. This study aims to identify prevalence, risk factors, and recurrent venous thromboembolism (VTE) rates among patients with idiopathic (cryptogenic) CVT and CVT provoked by transient (peripartum, hormonal treatment, infection, trauma) and persistent (cancer, thrombophilia) factors.

  • Association Between LACE+ Index Risk Category and 90-Day Mortality After Stroke

    lunes, octubre 14, 2024
    Author(s): Adalia Jun-O'Connell,Brian Silver,Eliza Grigoriciuc,Akanksha Gulati,Kimiyoshi J Kobayashi,Nils Henninger
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: A higher LACE+ index risk category (defined as LACE+ score ≥78) typically calculated before hospital discharge has been associated with increased risk of unplanned 30-day hospital readmissions and early death after hospital discharge. However, its utility to predict poststroke mortality is unknown. Here, we examined whether the LACE+ index risk category assessed at both discharge (dLACE+) and admission (aLACE+) was associated with 90-day mortality after stroke.

  • Emerging roles of antimicrobial peptides in innate immunity, neuronal function, and neurodegeneration

    jueves, octubre 10, 2024
    Author(s): Soojin Lee,Neal Silverman,Fen-Biao Gao
    Source: Trends in neurosciences
    Antimicrobial peptides (AMPs), a collection of small proteins with important roles in classical innate immunity, have been extensively studied in multiple organisms, particularly in Drosophila melanogaster. Advances in CRISPR/Cas9 genome editing have allowed individual AMP functions to be dissected, revealing specific and selective roles in host defense. Recent findings have also revealed many unexpected contributions of endogenous AMPs to neuronal functions and neurodegenerative diseases, and...

  • Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture

    martes, octubre 08, 2024
    Author(s): Lisa L Hall,Kevin M Creamer,Meg Byron,Jeanne B Lawrence
    Source: Nucleus (Austin, Tex.)
    Cytogenetic bands reflect genomic organization in large blocks of DNA with similar properties. Because banding patterns are invariant, this organization may often be assumed unimportant for genome regulation. Results here challenge that view. Findings here suggest cytogenetic bands reflect a visible framework upon which regulated genome architecture is built. Given Alu and L1 densities differ in cytogenetic bands, we examined their distribution after X-chromosome inactivation or formation of...

  • Paramagnetic Rim Lesions are Highly Specific for Multiple Sclerosis in Real-World Data

    lunes, octubre 07, 2024
    Author(s): Christopher C Hemond,Sathish K Dundamadappa,Mugdha Deshpande,Jonggyu Baek,Robert H Brown,Carolina Ionete,Daniel S Reich
    Source: medRxiv : the preprint server for health sciences
    CONCLUSIONS: PRL convey high specificity for MS and can aid in the diagnostic evaluation. Modest sensitivity limits their use as single diagnostic indicators. Including lesions with lower confidence ("possible" PRL) rapidly erodes specificity and should be interpreted with caution given the potential harms associated with misdiagnosis.

  • Crucial role of Snf7-3 in synaptic function and cognitive behavior revealed by conventional and conditional knockout mouse models

    domingo, octubre 06, 2024
    Author(s): Hyopil Kim,Jae-Woo Jang,Su-Eon Sim,Jisu Lee,June-Hyun Jeong,Semin Park,You-Kyung Lee,Hyun-Ji Ham,Nam-Kyung Yu,Chae-Seok Lim,Fen-Biao Gao,Jin-A Lee,Bong-Kiun Kaang
    Source: Neuroscience
    Snf7-3 is a crucial component of the endosomal sorting complexes required for transport (ESCRT) pathway, playing a vital role in endolysosomal functions. To elucidate the role of Snf7-3 in vivo, we developed conventional-like and conditional Snf7-3 knockout (KO) mouse models using a "Knockout-first" strategy. Conventional-like Snf7-3 KO mice showed significantly reduced Snf7-3 mRNA expression, and older mice (25-40 weeks) exhibited impaired social recognition and increased miniature excitatory...

  • Opinion: can we bust the fear of symptomatic intracerebral hemorrhage due to tPA?

    viernes, octubre 04, 2024
    Author(s): Adalia H Jun-O'Connell
    Source: Frontiers in neurology
    No abstract

  • Curriculum Innovations: Enhancing Skills in Serious Illness Communication in Neurology Residents Using Simulation: A Pilot Study

    jueves, octubre 03, 2024
    Author(s): Marcey Osgood,Brian Silver,Jennifer Reidy,Vandana Nagpal
    Source: Neurology. Education
    BACKGROUND AND PROBLEM STATEMENT: Patients with acute ischemic stroke are faced with prognostic uncertainty, progressive decline, and early mortality. Many neurologists report a lack of education and experience in providing palliative care. We developed a simulation-based curriculum to improve residents' confidence and comfort with conducting late-stage goals of care (GOC) conversations.

  • Perineuroma Caused Isolated Footdrop

    martes, octubre 01, 2024
    Author(s): Stephen Chrzanowski,Christopher Mount,Maria Martinez-Lage,Bragi Sveinsson,Justin Brown,Reza Sadjadi
    Source: Neurology
    No abstract

  • Increasing intracellular dNTP levels improves prime editing efficiency

    miércoles, septiembre 25, 2024
    Author(s): Pengpeng Liu,Karthikeyan Ponnienselvan,Thomas Nyalile,Sarah Oikemus,Anya T Joynt,Sukanya Iyer,Karen Kelly,Dongsheng Guo,Pyae P Kyawe,Emma Vanderleeden,Sambra D Redick,Lei Huang,Zexiang Chen,Jeong Min Lee,Celia A Schiffer,David M Harlan,Jennifer P Wang,Charles P Emerson,Nathan D Lawson,Jonathan K Watts,Erik J Sontheimer,Jeremy Luban,Scot A Wolfe
    Source: Nature biotechnology
    In primary cell types, intracellular deoxynucleotide triphosphate (dNTP) levels are tightly regulated in a cell cycle-dependent manner. We report that prime editing efficiency is increased by mutations that improve the enzymatic properties of Moloney murine leukemia virus reverse transcriptase and treatments that increase intracellular dNTP levels. In combination, these modifications produce substantial increases in precise editing rates.

  • Implementation and Preliminary Evaluation of an Entrepreneurship, Biomedical Innovation, and Design Pathway in a School of Medicine Curriculum

    martes, septiembre 24, 2024
    Author(s): Nathaniel Hafer,Christian Keenan,Anindita Deb
    Source: Research square
    CONCLUSIONS: This new pathway curriculum at UMass Chan is designed to introduce students to the principles of innovation, entrepreneurship, and technology commercialization. An element of this pathway focused on basic engineering principles provided students with baseline understandings of biomedical design, human factors, and risk/hazard analysis. Despite small sample sizes, the results show improvements in student comfort with the material and knowledge. Novel curricula have the potential to...

  • Intravenous Thrombolysis in Patients With Cervical Artery Dissection: A Secondary Analysis of the STOP-CAD Study

    jueves, septiembre 19, 2024
    Author(s): Liqi Shu,Favour Akpokiere,Daniel M Mandel,Thalia S Field,Christopher R Leon Guerrero,Nils Henninger,Jayachandra Muppa,Muhammad Affan,Omair U Haq Lodhi,Mirjam R Heldner,Kateryna Antonenko,David J Seiffge,Marcel Arnold,Setareh Salehi Omran,Ross Crandall,Evan Lester,Diego López-Mena,Antonio Arauz,Ahmad Nehme,Marion Boulanger,Emmanuel Touzé,João André Sousa,João Sargento-Freitas,Vasco Barata,Paulo Castro-Chaves,Maria T Brito,Muhib Khan,Dania Mallick,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufmann,Stefan T Engelter,Christopher Traenka,Diana Aguiar de Sousa,Mafalda D Soares,Sara B Rosa,Lily Zhou,Preet Gandhi,Steven Mancini,Issa Metanis,Ronen R Leker,Kelly Pan,Vishnu Dantu,Karl Baumgartner,Tina M Burton,Regina Von Rennenberg,Christian H Nolte,Richard Choi,Jason MacDonald,Reza Bavarsad Shahripour,Xiaofan Guo,Malik Ghannam,Mohammad Almajali,Edgar A Samaniego,Bastien Rioux,Faycal Zine-Eddine,Alexandre Poppe,Ana C Fonseca,Maria F Baptista,Diana Cruz,Michele Romoli,Giovanna De Marco,Marco Longoni,Zafer Keser,Kim J Griffin,Lindsey Kuohn,Jennifer A Frontera,Jordan Y Amar,James A 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 P Kicielinski,Ali Eltatawy,Lina Chervak,Roberto Chulluncuy Rivas,Yasmin N Aziz,Eva A Mistry,Ekaterina Bakradze,Thanh L Tran,Marc Rodrigo-Gisbert,Manuel Requena,Faddi G Saleh Velez,Jorge Ortiz Garcia,Varsha Muddasani,Adam de Havenon,Sebastian Sanchez,Venugopalan Y Vishnu,Sridhara Yaddanapudi,Latasha Adams,Abigail Browngoehl,Tamra Ranasinghe,Randy Dunston,Zachary Lynch,Mary Penckofer,James E Siegler,Silvia Mayer,Joshua Z Willey,Adeel S Zubair,Yee Kuang Cheng,Richa Sharma,João Pedro Marto,Danna Krupka,Piers Klein,Thanh N Nguyen,Syed Daniyal Asad,Zoha Sarwat,Anvesh Balabhadra,Shivam Patel,Thais Secchi,Sheila C Martins,Gabriel P Mantovani,Young Dae Kim,Balaji Krishnaiah,Cheran Elangovan,Sivani Lingam,Abid Y Qureshi,Sebastian Fridman,Alonso Alvarado,Farid Khasiyev,Guillermo Linares,Marina Mannino,Valeria Terruso,Argyro Tountopoulou,Vasileios Tentolouris-Piperas,Manuel M Martinez-Marino,Victor Carrasco Wall,Fransisca Indraswari,Sleiman E El Jamal,Shilin Liu,Min Zhou,Muhammad M 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,Runqi Wangqin,Han Xiao,Narendra S Kala,Farhan Khan,Christoph Stretz,Nahid Mohammadzadeh,Eric D Goldstein,Karen Furie,Shadi Yaghi
    Source: Neurology
    OBJECTIVES: Cervical artery dissection (CeAD) accounts for 25% of ischemic strokes in young adults. This study evaluated the benefits and harms of intravenous thrombolysis (IVT) in patients presenting with spontaneous CeAD and acute ischemic stroke symptoms.

  • Targeted proteomics of cerebrospinal fluid in treatment naïve multiple sclerosis patients identifies immune biomarkers of clinical phenotypes

    miércoles, septiembre 18, 2024
    Author(s): Alexandra Rabin,Elisa Bello,Saurabh Kumar,Dalia Abou Zeki,Khashayar Afshari,Mugdha Deshpande,Nimmy Francis,Farnaz Khalighinejad,Raffaella Umeton,Irina Radu,Fatima Qutab,Danny Kwong,Mariana Kurban,Christopher Hemond,Jillian M Richmond,Carolina Ionete
    Source: Scientific reports
    Multiple sclerosis (MS) is an inflammatory demyelinating disease with heterogeneous clinical presentations and variable long-term disability accumulation. There are currently no standard criteria to accurately predict disease outcomes. In this study we investigated the cross-sectional relationship between disease phenotype and immune-modulating cytokines and chemokines in cerebrospinal fluid (CSF). We analyzed CSF from 20 DMT-naïve MS patients using Olink Proteomics' Target 96 Inflammation panel...

  • The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients

    miércoles, septiembre 18, 2024
    Author(s): Alexander Zygmunt,Brenda Wong,David Moon,Paul Horn,Richard Rathbun,Joshua Lambert,Jean Bange,Irina Rybalsky,Lisa Reebals,Cuixia Tian
    Source: Muscle & nerve
    INTRODUCTION/AIMS: Studies have demonstrated that certain genotypes in Duchenne muscular dystrophy (DMD) have milder or more severe phenotypes. These studies included individuals treated and not treated with corticosteroids and multiple sites with potentially varying standards of care. We aimed to assess genotype-phenotype correlations for age at loss of ambulation (LoA) in a large cohort of individuals with DMD treated with corticosteroids at one center.

  • Development and Analytical Validation of a Surface-Enhanced Raman Scattering Paper Lateral Flow Immunoassay for Detection of the Ubiquitin C-Terminal Hydrolase-L1 Traumatic Brain Injury Biomarker

    lunes, septiembre 16, 2024
    Author(s): Weirui Tan,Yingjie Hang,Anyang Wang,Jiacheng Wang,Jane G Wigginton,Susanne Muehlschlegel,Nianqiang Wu
    Source: ACS omega
    Paper lateral flow immunoassays combined with surface-enhanced Raman scattering (SERS) technology have gained increasing attention due to their high sensitivity characteristics resulting from the amplified SERS signals of the plasmon-enhanced optical probes. In contrast to conventional colorimetric lateral flow strips, SERS paper lateral flow strips (SERS-PLFSs) are currently not commercially available for widespread use. Analytical validation is the key step for commercialization. In this work,...

  • Predictive value of follow-up infarct volume on functional outcomes in middle cerebral artery M2 segment vessel occlusion stroke treated with mechanical thrombectomy

    viernes, septiembre 13, 2024
    Author(s): Vivek Yedavalli,Hamza Adel Salim,Basel Musmar,Nimer Adeeb,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,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,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw
    Source: European stroke journal
    CONCLUSIONS: FIV within 36 h post-MT serves as a potent predictor of 90-day functional outcomes in patients with M2 segment MeVO strokes. Establishing FIV thresholds may aid in the prognostication of stroke outcomes, suggesting a role for FIV in guiding post intervention treatment decisions and informing clinical practice. Future research should focus on validating these findings across diverse patient populations and exploring the integration of FIV measurements with other clinical and imaging...

  • Mechanical Thrombectomy Versus Intravenous Thrombolysis in Distal Medium Vessel Acute Ischemic Stroke: A Multinational Multicenter Propensity Score-Matched Study

    jueves, septiembre 12, 2024
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Basel Musmar,Nimer Adeeb,Muhammed Amir Essibayi,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Y Q Tan,Benjamin Pulli,Jeremy J Heit,Robert W Regenhardt,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Razvan Alexandru Radu,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,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of stroke
    CONCLUSION: The results of this study indicate that while MT-IVT and IVT alone show similar functional and mortality outcomes in DMVO patients, MT-IVT presents a higher risk of hemorrhagic complications, thus MT-IVT may not routinely offer additional benefits over IVT alone for all DMVO stroke patients. Further prospective randomized trials are needed to identify patient subgroups most likely to benefit from MT-IVT treatment in DMVO.

  • Variability in Vowel Space in Parkinson's Disease: Associations With Cognitive and Motor Impairment

    miércoles, septiembre 11, 2024
    Author(s): Ginige S DeSilva,Prashasti Upadhyay,Michelle Manxhari,Daksha Gopal,Kara M Smith
    Source: Journal of speech, language, and hearing research : JSLHR
    CONCLUSIONS: Variability in vowel space is impacted by cognitive impairment and speech task in PwP. These findings are relevant to the further development of speech markers in PwP and other neurogenerative diseases that impact both cognitive and motor functions.

  • Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

    jueves, septiembre 05, 2024
    Author(s): James W Gilbert,Zachary Kennedy,Bruno M D C Godinho,Ashley Summers,Alexandra Weiss,Dimas Echeverria,Brianna Bramato,Nicholas McHugh,David Cooper,Ken Yamada,Matthew Hassler,Hélène Tran,Fen Biao Gao,Robert H Brown,Anastasia Khvorova
    Source: Molecular therapy. Nucleic acids
    A hexanucleotide (G(4)C(2)) repeat expansion (HRE) within intron one of C9ORF72 is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). C9ORF72 haploinsufficiency, formation of RNA foci, and production of dipeptide repeat (DPR) proteins have been proposed as mechanisms of disease. Here, we report the first example of disease-modifying siRNAs for C9ORF72 driven ALS/FTD. Using a combination of reporter assay and primary cortical neurons derived from a...

  • Near Sequence Homology Does Not Guarantee siRNA Cross-Species Efficacy

    martes, agosto 27, 2024
    Author(s): Iris Valeria Rivera Flores,Kathryn Monopoli,Samuel Jackson,Dimas Echeverria,Daniel O'Reilly,Robert H Brown,Anastasia Khvorova
    Source: Nucleic acid therapeutics
    Small interfering RNAs (siRNAs) represent a novel class of drugs capable of potent and sustained modulation of genes across various tissues. Preclinical development of siRNAs necessitates assessing efficacy and toxicity in animal models. While identifying therapeutic leads with cross-species activity can expedite development, it may compromise efficacy and be infeasible for certain gene targets. Here, we investigate whether deriving species-active siRNAs from potent human-targeting leads-an...

  • Normative Modeling of Thalamic Nuclear Volumes and Characterization of Lateralized Volume Alterations in Alzheimer's Disease Versus Schizophrenia

    domingo, agosto 25, 2024
    Author(s): Taylor R Young,Vinod Jangir Kumar,Manojkumar Saranathan
    Source: Biological psychiatry. Cognitive neuroscience and neuroimaging
    CONCLUSIONS: In AD, thalamic nuclei are more severely and symmetrically affected, while in SCZ, the right thalamic nuclei are more affected. We highlight the right medial dorsal nucleus, which may mediate multiple symptoms of SCZ and is affected early in the disease course.

  • A self-complementary AAV proviral plasmid that reduces cross-packaging and ITR promoter activity in AAV vector preparations

    miércoles, agosto 14, 2024
    Author(s): Noah K Taylor,Matthew J Guggenbiller,Pranali P Mistry,Oliver D King,Scott Q Harper
    Source: Molecular therapy. Methods & clinical development
    Adeno-associated viral vectors (AAVs) are a leading delivery system for gene therapy in animal models and humans. With several Food and Drug Administration-approved AAV gene therapies on the market, issues related to vector manufacturing have become increasingly important. In this study, we focused on potentially toxic DNA contaminants that can arise from AAV proviral plasmids, the raw materials required for manufacturing recombinant AAV in eukaryotic cells. Typical AAV proviral plasmids are...

  • Critical illness-associated cerebral microbleeds involving the corpus callosum following cardiac arrest: A case report

    viernes, agosto 09, 2024
    Author(s): Bahadar S Srichawla,Ton Fang,Vincent Kipkorir,Rakhee Lalla
    Source: Medicine
    RATIONALE: Critical illness-associated cerebral microbleeds (CI-aCMBs) are emerging as significant radiographic findings in patients with hypoxic ischemic injuries. Their occurrence, particularly in the corpus callosum, warrants a closer examination due to the potential implications for neurological outcomes in critically ill patients. We aim to describe a rare case of CI-aCMBs within the corpus callosum following cardiac arrest with the goal of bolstering the scientific literature on this...

  • Poly-GR repeats associated with ALS/FTD gene C9ORF72 impair translation elongation and induce a ribotoxic stress response in neurons

    martes, agosto 06, 2024
    Author(s): Daoyuan Dong,Zhe Zhang,Yini Li,Malgorzata J Latallo,Shaopeng Wang,Blake Nelson,Rong Wu,Gopinath Krishnan,Fen-Biao Gao,Bin Wu,Shuying Sun
    Source: Science signaling
    Hexanucleotide repeat expansion in the C9ORF72 gene is the most frequent inherited cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansion results in multiple dipeptide repeat proteins, among which arginine-rich poly-GR proteins are highly toxic to neurons and decrease the rate of protein synthesis. We investigated whether the effect on protein synthesis contributes to neuronal dysfunction and degeneration. We found that the expression of poly-GR proteins...

  • Assessment of Thrombectomy versus Combined Thrombolysis and Thrombectomy in Patients with Acute Ischemic Stroke and Medium Vessel Occlusion

    martes, agosto 06, 2024
    Author(s): Adam A Dmytriw,Sherief Ghozy,Hamza Adel Salim,Basel Musmar,James E Siegler,Hassan Kobeissi,Hamza Shaikh,Jane Khalife,Mohamad Abdalkader,Piers Klein,Thanh N Nguyen,Jeremy J Heit,Robert W Regenhardt,Nicole M Cancelliere,Kareem El Naamani,Abdelaziz Amllay,Lukas Meyer,Anne Dusart,Flavio Bellante,Géraud Forestier,Aymeric Rouchaud,Suzana Saleme,Charbel Mounayer,Jens Fiehler,Anna Luisa Kühn,Ajit S Puri,Christian Dyzmann,Peter T Kan,Marco Colasurdo,Gaultier Marnat,Jérôme Berge,Xavier Barreau,Igor Sibon,Simona Nedelcu,Nils Henninger,Thomas R Marotta,Christopher J Stapleton,James D Rabinov,Takahiro Ota,Shogo Dofuku,Leonard L L Yeo,Benjamin Y Q Tan,Juan Carlos Martinez-Gutierrez,Sergio Salazar-Marioni,Sunil Sheth,Leonardo Renieri,Carolina Capirossi,Ashkan Mowla,Nimer Adeeb,Hugo H Cuellar-Saenz,Stavropoula I Tjoumakaris,Pascal Jabbour,Priyank Khandelwal,Arundhati Biswas,Frédéric Clarençon,Mahmoud Elhorany,Kevin Premat,Iacopo Valente,Alessandro Pedicelli,João Pedro Filipe,Ricardo Varela,Miguel Quintero-Consuegra,Nestor R Gonzalez,Markus A Möhlenbruch,Jessica Jesser,Vincent Costalat,Adrien Ter Schiphorst,Vivek Yedavalli,Pablo Harker,Lina M Chervak,Yasmin Aziz,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Ramanathan Kadirvel,Monika Killer-Oberpfalzer,Christoph J Griessenauer,Ajith J Thomas,Cheng-Yang Hsieh,David S Liebeskind,Răzvan Alexandru Radu,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Robert Fahed,Charlotte S Weyland,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,MAD-MT Consortium
    Source: Radiology
    Background The combination of intravenous thrombolysis (IVT) with mechanical thrombectomy (MT) may have clinical benefits for patients with medium vessel occlusion. Purpose To examine whether MT combined with IVT is associated with different outcomes than MT alone in patients with acute ischemic stroke (AIS) and medium vessel occlusion. Materials and Methods This retrospective study included consecutive adult patients with AIS and medium vessel occlusion treated with MT or MT with IVT at 37...

  • Pretreatment predictors of very poor clinical outcomes in medium vessel occlusion stroke patients treated with mechanical thrombectomy

    martes, julio 30, 2024
    Author(s): Vivek Yedavalli,Hamza Salim,Basel Musmar,Nimer Adeeb,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Jeremy J Heit,Robert W Regenhardt,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil 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,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,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw
    Source: International journal of stroke : official journal of the International Stroke Society
    CONCLUSIONS: This study demonstrates that advanced age, higher NIHSS scores, elevated pre-stroke mRS, and pre-operative glucose levels significantly predict very poor outcomes in AIS-MeVO patients who received MT. These findings highlight the importance of a comprehensive risk assessment in primary MeVO patients for personalized treatment strategies. However, they also suggest a need for cautious patient selection for endovascular thrombectomy. Further prospective studies are needed to confirm...

  • Endovascular therapy versus best medical management in distal medium middle cerebral artery acute ischaemic stroke: a multinational multicentre propensity score-matched study

    martes, julio 23, 2024
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Basel Musmar,Nimer Adeeb,Kareem E L Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yong Qiang Tan,Jeremy J Heit,Robert W Regenhardt,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Muhammed Amir Essibayi,Sunil A Sheth,Ajit S Puri,Xavier Barreau,Marco Colasurdo,Leonardo Renieri,Christian Dyzmann,Thomas Marotta,Julian Spears,Askan Mowla,Pascal Jabbour,João Pedro Filipe,Arundhati Biswas,Pablo Harker,Frédéric Clarençon,Răzvan Alexandru Radu,James E Siegler,Thanh N Nguyen,Ricardo Varela,Takahiro Ota,Nestor Gonzalez,Markus A Moehlenbruch,David Altschul,Benjamin Gory,Vincent Costalat,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Amanda Baker,Alessandro Pedicelli,Andrea Alexandre,Tobias D Faizy,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of neurology, neurosurgery, and psychiatry
    CONCLUSION: Our findings suggest that while EVT does not significantly improve functional outcomes compared with BMM in DMVO, it is associated with higher risks of haemorrhagic complications. These results support a cautious approach to the use of EVT in DMVO and highlight the need for further prospective randomised trials to refine treatment strategies.

  • Selective brain cooling with a novel catheter reduces infarct growth after recanalization in a canine large vessel occlusion model

    martes, julio 23, 2024
    Author(s): Robert M King,Vania Anagnostakou,Mohammed Salman Shazeeb,Shannon Hornibrook,Jennifer Mitchell,Mark Epshtein,Christopher Raskett,Nils Henninger,Ajit S Puri,Thomas L Merrill,Matthew J Gounis
    Source: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
    CONCLUSIONS: Selective hypothermia was able to reduce the post-MCAO infarct progression in a canine model of temporary MCAO.

  • SMCHD1 activates the expression of genes required for the expansion of human myoblasts

    viernes, julio 12, 2024
    Author(s): Matthew Man-Kin Wong,Sarah Hachmer,Ed Gardner,Valeria Runfola,Eric Arezza,Lynn A Megeney,Charles P Emerson,Davide Gabellini,F Jeffrey Dilworth
    Source: Nucleic acids research
    SMCHD1 is an epigenetic regulatory protein known to modulate the targeted repression of large chromatin domains. Diminished SMCHD1 function in muscle fibers causes Facioscapulohumeral Muscular Dystrophy (FSHD2) through derepression of the D4Z4 chromatin domain, an event which permits the aberrant expression of the disease-causing gene DUX4. Given that SMCHD1 plays a broader role in establishing the cellular epigenome, we examined whether loss of SMCHD1 function might affect muscle homeostasis...

  • Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

    miércoles, julio 10, 2024
    Author(s): Francesco Muntoni,James Signorovitch,Gautam Sajeev,Nicolae Done,Zhiwen Yao,Nathalie Goemans,Craig McDonald,Eugenio Mercuri,Erik H Niks,Brenda Wong,Krista Vandenborne,Volker Straub,Imelda J M de Groot,Cuixia Tian,Adnan Manzur,Ibrahima Dieye,Henry Lane,Susan J Ward,Laurent Servais,PRO-DMD-01 study investigators,Association Française contre les Myopathies,UK NorthStar Clinical Network,ImagingDMD investigators,cTAP
    Source: PloS one
    Evaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the 'meaningfulness' of changes in functional measures. We estimated the minimal detectable change (MDC) for selected motor function measures in ambulatory DMD, i.e., the minimal degree of measured change needed to be confident that true underlying change has occurred rather than transient variation or measurement error. MDC...

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

    martes, julio 09, 2024
    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 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: bioRxiv : the preprint server for biology
    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 lowering a promising approach, supported by preclinical data and the 2023 FDA approval of the GapmeR ASO targeting SOD1, tofersen. Despite the approval of an ASO and the optimism it brings to the field, the pharmacodynamics and...

  • Symptomatic intracerebral hemorrhage in proximal and distal medium middle cerebral artery occlusion patients treated with mechanical thrombectomy

    lunes, julio 08, 2024
    Author(s): Vivek S Yedavalli,Hamza Adel Salim,Basel Musmar,Nimer Adeeb,Muhammed Amir Essibayi,Kareem ElNaamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,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,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,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSION: This study provides novel insight into factors associated with sICH in patients undergoing MT for DMVO, emphasizing the importance of age, distal occlusion site, prior use of antiplatelet drugs, lower ASPECTS, higher preoperative blood glucose level, and procedural factors such as the number of passes and successful recanalization. Pending confirmation, consideration of these factors may improve personalized treatment strategies.

  • Multicenter evaluation of mechanical thrombectomy for distal medium vessel occlusions with National Institute of Health Stroke Scale Scores ≥ 6 and ≤ 6

    viernes, julio 05, 2024
    Author(s): Anna Luisa Kühn,Ajit S Puri,Hamza Adel Salim,Basel Musmar,Sherief Ghozy,James Siegler,Hamza Shaikh,Jane Khalife,Mohamad Abdalkader,Piers Klein,Thanh N Nguyen,Jeremy J Heit,Robert W Regenhardt,Jose Danilo Bengzon Diestro,Nicole M Cancelliere,Ahmad Sweid,Kareem El Naamani,Zuha Hasan,Anil Gopinathan,Abdelaziz Amllay,Lukas Meyer,Anne Dusart,Flavio Bellante,Géraud Forestier,Aymeric Rouchaud,Suzana Saleme,Charbel Mounayer,Jens Fiehler,Christian Dyzmann,Peter T Kan,Jasmeet Singh,Marco Colasurdo,Gaultier Marnat,Jérôme Berge,Xavier Barreau,Igor Sibon,Simona Nedelcu,Nils Henninger,Thomas R Marotta,Christopher J Stapleton,James D Rabinov,Takahiro Ota,Shogo Dofuku,Leonard Ll Yeo,Benjamin Y Q Tan,Juan Carlos Martinez-Gutierrez,Sergio Salazar-Marioni,Sunil Sheth,Leonardo Renieri,Carolina Capirossi,Ashkan Mowla,Stavropoula I Tjoumakaris,Pascal Jabbour,Priyank Khandelwal,Arundhati Biswas,Frédéric Clarençon,Mahmoud Elhorany,Kevin Premat,Iacopo Valente,Alessandro Pedicelli,João Pedro Filipe,Ricardo Varela,Miguel Quintero-Consuegra,Nestor R Gonzalez,Markus A Möhlenbruch,Jessica Jesser,Vincent Costalat,Adrien Ter Schiphorst,Vivek Yedavalli,Pablo Harker,Lina Chervak,Yasmin Aziz,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Monika Killer-Oberpfalzer,Christoph J Griessenauer,Ajith Thomas,Cheng-Yang Hsieh,David S Liebeskind,Răzvan Alexandru Radu,Andrea M Alexandre,Robert Fahed,Illario Tancredi,Tobias D Faizy,Charlotte Weyland,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD-MT Consortium
    Source: Journal of neurology
    CONCLUSION: Mechanical thrombectomy in distal and medium vessel occlusions, specifically in patients with low stroke scale scores is feasible, though it may not necessarily improve outcomes over IVT.

  • Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

    martes, julio 02, 2024
    Author(s): Sarah Opie-Martin,Alfredo Iacoangeli,Simon D Topp,Olubunmi Abel,Keith Mayl,Puja R Mehta,Aleksey Shatunov,Isabella Fogh,Harry Bowles,Naomi Limbachiya,Thomas P Spargo,Ahmad Al-Khleifat,Kelly L Williams,Jennifer Jockel-Balsarotti,Taha Bali,Wade Self,Lyndal Henden,Garth A Nicholson,Nicola Ticozzi,Diane McKenna-Yasek,Lu Tang,Pamela J Shaw,Adriano Chio,Albert Ludolph,Jochen H Weishaupt,John E Landers,Jonathan D Glass,Jesus S Mora,Wim Robberecht,Philip Van Damme,Russell McLaughlin,Orla Hardiman,Leonard van den Berg,Jan H Veldink,Phillippe Corcia,Zorica Stevic,Nailah Siddique,Vincenzo Silani,Ian P Blair,Dong-Sheng Fan,Florence Esselin,Elisa de la Cruz,William Camu,Nazli A Basak,Teepu Siddique,Timothy Miller,Robert H Brown,Ammar Al-Chalabi,Christopher E Shaw
    Source: Nature communications
    No abstract

  • Risk factors for MACE and bleeding in atrial fibrillation patients undergoing surgery: Insights from the bridge trial

    sábado, junio 29, 2024
    Author(s): Liqi Shu,Naomi Jack,Adam de Havenon,Eric D Goldstein,Farhan Khan,Thanh N Nguyen,Nils Henninger,James E Siegler,Christoph Stretz,Elizabeth Perelstein,Narendra Kala,Maheen Rana,Karen L Furie,James D Douketis,Shadi Yaghi
    Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
    CONCLUSION: We identified predictors for MACE and symptomatic bleeding in AF patients undergoing elective procedures. These insights may help guide perioperative decisions to reduce the risk of adverse outcomes.

  • New Imaging Markers in Multiple Sclerosis and Related Disorders: Smoldering Inflammation and the Central Vein Sign

    viernes, junio 28, 2024
    Author(s): Christopher C Hemond,María I Gaitán,Martina Absinta,Daniel S Reich
    Source: Neuroimaging clinics of North America
    Concepts of multiple sclerosis (MS) biology continue to evolve, with observations such as "progression independent of disease activity" challenging traditional phenotypic categorization. Iron-sensitive, susceptibility-based imaging techniques are emerging as highly translatable MR imaging sequences that allow for visualization of at least 2 clinically useful biomarkers: the central vein sign and the paramagnetic rim lesion (PRL). Both biomarkers demonstrate high specificity in the discrimination...

  • The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD

    jueves, junio 27, 2024
    Author(s): Dilara O Halim,Gopinath Krishnan,Evan P Hass,Soojin Lee,Mamta Verma,Sandra Almeida,Yuanzheng Gu,Deborah Y Kwon,Thomas G Fazzio,Fen-Biao Gao
    Source: Cell reports
    GGGGCC (G(4)C(2)) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst...

  • Focused Ultrasound-Mediated Disruption of the Blood-Brain Barrier for AAV9 Delivery in a Mouse Model of Huntington's Disease

    jueves, junio 27, 2024
    Author(s): Bernie S Owusu-Yaw,Yongzhi Zhang,Lilyan Garrett,Alvin Yao,Kai Shing,Ana Rita Batista,Miguel Sena-Esteves,Jaymin Upadhyay,Kimberly Kegel-Gleason,Nick Todd
    Source: Pharmaceutics
    Huntington's disease (HD) is a monogenic neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. There are no cures for HD, but the genetic basis of this disorder makes gene therapy a viable approach. Adeno-associated virus (AAV)-miRNA-based therapies have been demonstrated to be effective in lowering HTT mRNA; however, the blood-brain barrier (BBB) poses a significant challenge for gene delivery to the brain. Delivery strategies...

  • Neurologic Care for Transgender and Gender-Diverse People: A Review of Current Evidence and Clinical Implications

    miércoles, junio 26, 2024
    Author(s): Gwen Zeigler,Cole A Harrington,Nicole Rosendale,Christos Ganos,Valeria Roldan,Anna Pace,Sasha Alick-Lindstrom,Casey Orozco-Poore,Wissam Deeb,Margaret L Hansen,Z Paige L'Erario
    Source: Neurology. Clinical practice
    PURPOSE OF REVIEW: To summarize the literature on neurologic care for transgender and gender-diverse (TGD) people and provide implications for clinical practice.

  • A single-arm, open-label pilot study of neuroimaging, behavioral, and peripheral inflammatory correlates of mindfulness-based stress reduction in multiple sclerosis

    martes, junio 18, 2024
    Author(s): Christopher C Hemond,Mugdha Deshpande,Idanis Berrios-Morales,Shaokuan Zheng,Jerrold S Meyer,George M Slavich,Steven W Cole
    Source: Scientific reports
    Multiple sclerosis (MS) is a chronic neurological disease frequently associated with significant fatigue, anxiety, depression, and stress. These symptoms are difficult to treat, and prominently contribute to the decreases in quality of life observed with MS. The underlying mechanisms of these "silent" symptoms are not well understood and include not just the psychological responses to a chronic disease, but also biological contributions from bidirectional psycho-neuro-immune (dys)regulation of...

  • AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice

    miércoles, junio 12, 2024
    Author(s): Alex J Roy,Jeffrey R Leipprandt,Joseph R Patterson,Anna C Stoll,Christopher J Kemp,Zaipo-Tcheisian D Oula,Tyler Mola,Ana R Batista,Caryl E Sortwell,Miguel Sena-Esteves,Richard R Neubig
    Source: The Journal of pharmacology and experimental therapeutics
    Mutations in the GNAO1 gene, which encodes the abundant brain G-protein Gα (o), result in neurologic disorders characterized by developmental delay, epilepsy, and movement abnormalities. There are over 50 mutant alleles associated with GNAO1 disorders; the R209H mutation results in dystonia, choreoathetosis, and developmental delay without seizures. Mice heterozygous for the human mutant allele (Gnao1 ^(+/R209H)) exhibit hyperactivity in open field tests but no seizures. We developed...

  • Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease

    lunes, junio 10, 2024
    Author(s): Paul J Hop,Dongbing Lai,Pamela J Keagle,Desiree M Baron,Brendan J Kenna,Maarten Kooyman,None Shankaracharya,Cheryl Halter,Letizia Straniero,Rosanna Asselta,Salvatore Bonvegna,Alexandra I Soto-Beasley,Project MinE ALS Sequencing Consortium,Zbigniew K Wszolek,Ryan J Uitti,Ioannis Ugo Isaias,Gianni Pezzoli,Nicola Ticozzi,Owen A Ross,Jan H Veldink,Tatiana M Foroud,Kevin P Kenna,John E Landers
    Source: Nature genetics
    Despite substantial progress, causal variants are identified only for a minority of familial Parkinson's disease (PD) cases, leaving high-risk pathogenic variants unidentified^(1,2). To identify such variants, we uniformly processed exome sequencing data of 2,184 index familial PD cases and 69,775 controls. Exome-wide analyses converged on RAB32 as a novel PD gene identifying c.213C G/p.S71R as a high-risk variant presenting in ~0.7% of familial PD cases while observed in only 0.004% of...

  • Systematic assessment of long-read RNA-seq methods for transcript identification and quantification

    viernes, junio 07, 2024
    Author(s): Francisco J Pardo-Palacios,Dingjie Wang,Fairlie Reese,Mark Diekhans,Sílvia Carbonell-Sala,Brian Williams,Jane E Loveland,Maite De María,Matthew S Adams,Gabriela Balderrama-Gutierrez,Amit K Behera,Jose M Gonzalez Martinez,Toby Hunt,Julien Lagarde,Cindy E Liang,Haoran Li,Marcus Jerryd Meade,David A Moraga Amador,Andrey D Prjibelski,Inanc Birol,Hamed Bostan,Ashley M Brooks,Muhammed Hasan Çelik,Ying Chen,Mei R M Du,Colette Felton,Jonathan Göke,Saber Hafezqorani,Ralf Herwig,Hideya Kawaji,Joseph Lee,Jian-Liang Li,Matthias Lienhard,Alla Mikheenko,Dennis Mulligan,Ka Ming Nip,Mihaela Pertea,Matthew E Ritchie,Andre D Sim,Alison D Tang,Yuk Kei Wan,Changqing Wang,Brandon Y Wong,Chen Yang,If Barnes,Andrew E Berry,Salvador Capella-Gutierrez,Alyssa Cousineau,Namrita Dhillon,Jose M Fernandez-Gonzalez,Luis Ferrández-Peral,Natàlia Garcia-Reyero,Stefan Götz,Carles Hernández-Ferrer,Liudmyla Kondratova,Tianyuan Liu,Alessandra Martinez-Martin,Carlos Menor,Jorge Mestre-Tomás,Jonathan M Mudge,Nedka G Panayotova,Alejandro Paniagua,Dmitry Repchevsky,Xingjie Ren,Eric Rouchka,Brandon Saint-John,Enrique Sapena,Leon Sheynkman,Melissa Laird Smith,Marie-Marthe Suner,Hazuki Takahashi,Ingrid A Youngworth,Piero Carninci,Nancy D Denslow,Roderic Guigó,Margaret E Hunter,Rene Maehr,Yin Shen,Hagen U Tilgner,Barbara J Wold,Christopher Vollmers,Adam Frankish,Kin Fai Au,Gloria M Sheynkman,Ali Mortazavi,Ana Conesa,Angela N Brooks
    Source: Nature methods
    The Long-read RNA-Seq Genome Annotation Assessment Project Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. Using different protocols and sequencing platforms, the consortium generated over 427 million long-read sequences from complementary DNA and direct RNA datasets, encompassing human, mouse and manatee species. Developers utilized these data to address challenges in transcript isoform detection, quantification and de novo transcript...