Results 171 to 180 of about 118,755 (255)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

open access: yesAnnals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate   +34 more
wiley   +1 more source

Mechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial

open access: yesAnnals of Neurology, EarlyView.
Objective This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.
Pierre Seners   +258 more
wiley   +1 more source

Memory and Plasma pTau217 Refine Prognosis in Down Syndrome

open access: yesAnnals of Neurology, EarlyView.
Individuals with Down syndrome (DS) are at high risk for Alzheimer's disease (AD), yet accessible tools for routine clinical screening of AD in individuals with DS remain limited. Using data from the Alzheimer Biomarker Consortium‐Down Syndrome (ABC‐DS), we show that integrating plasma pTau217 with performance on the modified cued recall task ...
Casey R. Vanderlip   +62 more
wiley   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

open access: yesAnnals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko   +8 more
wiley   +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola   +14 more
wiley   +1 more source

Cerebral No‐Reflow after Thrombectomy: International Delphi Consensus on Definition and Imaging Assessment

open access: yesAnnals of Neurology, EarlyView.
Background The operational definition and imaging assessment of the no‐reflow phenomenon, a potential contributor to poor clinical outcome despite successful thrombectomy, remains debated. We aimed to develop expert‐based international consensus on the definition, assessment, and reporting standard of cerebral no‐reflow post‐thrombectomy. Methods Three‐
Adnan Mujanovic   +21 more
wiley   +1 more source

Centrum Semiovale Perivascular Spaces Predict First Hemorrhagic Lesion in Asymptomatic Amyloid‐Positive Individuals

open access: yesAnnals of Neurology, EarlyView.
Objective Identification of cerebral amyloid angiopathy (CAA) before its hemorrhagic manifestations remains limited. We aimed to determine whether severe enlarged perivascular spaces in the centrum semiovale (EPVS‐CSO) identify a prehemorrhagic stage of sporadic CAA by predicting the first appearance of CAA‐related hemorrhagic lesions or incident ...
Baris Alten   +8 more
wiley   +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

open access: yesAnnals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby   +6 more
wiley   +1 more source

Rate and Shape of Functional Decline in Amyotrophic Lateral Sclerosis Identify Clinically Distinct Amyotrophic Lateral Sclerosis Phenotypes

open access: yesAnnals of Neurology, EarlyView.
Objective The ALS Functional Rating Scale–Revised decline rate compresses trajectory shape into a single number, potentially missing distinct phenotypes. We tested whether shape identifies phenotypes that rate does not distinguish, and whether post‐hoc analysis recovers a hidden ultrarapid subgroup. Methods From the Piemonte and Valle d'Aosta register (
Andrea Calvo   +20 more
wiley   +1 more source

Accelerated Epigenetic Aging in Frontotemporal Dementia Highlights Smoking, Inflammation, and Metabolic Signals

open access: yesAnnals of Neurology, EarlyView.
Objective Epigenetic clocks are biomarkers of biological aging influenced by lifestyle and systemic factors. Accelerated epigenetic aging has been associated with neurodegeneration, but its relevance in frontotemporal dementia is unclear. We investigated biological aging in frontotemporal dementia using the GrimAge2 epigenetic clock, a DNA methylation ...
Daphne Nijland   +9 more
wiley   +1 more source

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