Results 51 to 60 of about 7,620,483 (116)

Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression

BMJ Neurology Open
Background X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder that predominantly affects men from the Panay Islands in the Philippines.
Paulo Cataniag, Jed Noel Ong, Cid Czarina Diesta   +2 more
doaj   +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, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data

Scientific Reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment.
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen   +7 more
doaj   +1 more source

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Molecular Genetics & Genomic Medicine, 2020
Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia ...
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu   +6 more
doaj   +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, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes

Movement Disorders, EarlyView.
Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii, Sanne P. Smeekens, Maartje Pennings, Galuh Astuti, Lisenka E.L.M. Vissers, Helger G. Yntema, Christian Gilissen, Bart van de Warrenburg, Erik‐Jan Kamsteeg   +8 more
wiley   +1 more source

The characteristics of perivascular proinflammation in 4‐repeat tauopathies

Brain Pathology, EarlyView.
The spatial distribution of perivascular proinflammation differs between PSP and CBD: PSP shows a predominance in basal ganglia (BG), whereas CBD demonstrates more widespread involvement of both BG and superior/middle frontal gyrus (S/M‐FG). PSP exhibits profound proinflammatory activation around venules while CBD affects a comparable magnitude around ...
Mu‐Hui Fu, Gokhan Uruk, Rodolfo G. Gatto, R. Ross Reichard, Jennifer L. Whitwell, Keith A. Josephs   +5 more
wiley   +1 more source

Understanding extracellular vesicles in antiaging

Periodontology 2000, EarlyView.
Abstract Background Aging is a multifactorial process marked by gradual cellular dysregulation, regulated by hallmarks, including genomic instability, mitochondrial dysregulation, and chronic inflammation. Extracellular vesicles (EVs), especially exosomes, have emerged as pivotal mediators of cell‐to‐cell communication with potential roles in both ...
Paras Ahmad, Nathan E. Estrin, Anton Sculean, Richard J. Miron   +3 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, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Making sense of touch: Spatial tactile cues promote efficient visuo‐somatosensory integration and restore motor accuracy under sensory conflict

The Journal of Physiology, EarlyView.
Abstract figure legend Mirror‐reversed vision introduces a spatial discrepancy between visual and somatosensory information about hand position during finger tracing. The informational context of tactile cues significantly modulated the consequences of this visuo‐somatosensory conflict.
Maria Evangelia Vlachou, Eva Lafaverges, Laurence Mouchnino, Jean Blouin   +3 more
wiley   +1 more source