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Results 181 to 190 of about 1,225,648 (255)

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Movement Disorders, EarlyView.
Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi +13 more
wiley +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam +4 more
wiley +1 more source

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

Movement Disorders, EarlyView.
Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay +37 more
wiley +1 more source

Plasma Lipid Remodeling across Preclinical Burden, Disease Onset, and Early Motor Severity in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background and Objectives Huntington's disease (HD) evolves silently for years before motor onset, yet the systemic metabolic alterations accompanying cumulative exposure to mutant huntingtin and disease progression remain poorly understood.
Mohamed Bendimerad +11 more
wiley +1 more source

ON/OFF Phenomenon in 4‐Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights

Movement Disorders Clinical Practice, EarlyView.
Chiara Caneda +6 more
wiley +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos +19 more
wiley +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux +11 more
wiley +1 more source

Acute Post‐Partum Psychosis and Dystonia Reveals Late‐Onset MPAN

Movement Disorders Clinical Practice, EarlyView.
Mathilde Lachaume +7 more
wiley +1 more source

Neurofilament Light Chain and Mutant Huntingtin Across Huntington's Disease Integrated Staging System Stages in Huntington Disease: A Cross‐Sectional Multimodal Analysis

Movement Disorders, EarlyView.
Abstract Background The Huntington's Disease Integrated Staging System (HD‐ISS) provides a framework for staging HD but does not incorporate fluid biomarkers. Objective The aim of this study was to examine neurofilament light chain (NfL) and mutant huntingtin (mHTT) and total tau across HD‐ISS stages and their associations with genetic burden ...
Jesús Pérez‐Pérez +104 more
wiley +1 more source

medicine
autosomal dominant polycystic kidney disease