Results 71 to 80 of about 2,535,115 (155)

Apathy in Lewy Body Disorders: A Position Paper

open access: yesMovement Disorders, EarlyView.
Abstract Apathy is one of the most prevalent and disabling non‐motor symptoms in Parkinson's disease (PD) and dementia with Lewy bodies (DLB), collectively referred to as Lewy body disorders (LBDs). It is associated with reduced quality of life, accelerated cognitive decline, increased caregiver burden, and poorer functional outcomes, yet remains ...
Jaime Kulisevsky   +12 more
wiley   +1 more source

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

open access: yesMovement 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

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review

open access: yesRambam Maimonides Medical Journal
Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age.
Jamir Pitton Rissardo   +4 more
doaj   +1 more source

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Variability of motor imagery performance in children with cerebral palsy. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the two groups. Method In this cross‐sectional case–control study, 37 participants
Inbar Breuer Asher   +3 more
wiley   +1 more source

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

open access: yes, 2012
We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs.
Aslıhan Tolun   +11 more
core   +1 more source

Dualsteric and dual‐acting modulation of muscarinic receptors by antagonist KH‐5

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 19, Page 5769-5790, October 2026.
Abstract Background and purpose Muscarinic acetylcholine receptors are key therapeutic targets, and ligands engaging both orthosteric and allosteric sites may offer improved selectivity and efficacy. Here, we investigated whether the muscarinic antagonist KH‐5 acts as a dualsteric antagonist and defined its mode of interaction with muscarinic receptors.
Alena Janoušková‐Randáková   +3 more
wiley   +1 more source

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

open access: yes, 2021
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes.
Joos Berghausen   +3 more
core   +1 more source

Vestibular Paroxysmia Coexisting With Meige Syndrome: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT VP and MS are distinct clinical entities arising from the peripheral vestibular system and central extrapyramidal pathways, respectively. We report a rare case of a 69‐year‐old woman with coexistence of VP and MS. Individualized pharmacotherapy resolved vertigo and markedly improved blepharospasm.
Yanan Ding   +6 more
wiley   +1 more source

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

open access: yes, 2017
Mutations in PSEN1 are responsible for familial Alzheimerâs disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases.
Carecchio, Miryam   +5 more
core   +2 more sources

Centromedian-parafascicular complex deep brain stimulation improves motor symptoms in rapid onset Dystonia‐Parkinsonism (DYT12-ATP1A3)

open access: yesBrain Stimulation, 2023
Kai-Liang Wang   +6 more
doaj   +1 more source

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