Results 111 to 120 of about 39,513 (283)
Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe +11 more
core +2 more sources
FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer +6 more
wiley +1 more source
L-type calcium channel antagonists are uncommon causes of myoclonus, and the underlying mechanism remains unclear. Here, we report a case of parkinsonian syndrome with deterioration of preexisting myoclonus after nifedipine use.
Gohei Yamada +3 more
doaj +1 more source
Alcohol-responsive Action Myoclonus of the Leg in Prostate Cancer: A Novel Paraneoplastic Syndrome?
Background: Paraneoplastic movement disorders in prostate cancer are rare, and to our knowledge paraneoplastic myoclonus has not previously been reported.
Pichet Termsarasab, Steven J. Frucht
doaj +1 more source
Movement Disorders Presenting in Childhood. [PDF]
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Mitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature.
Suvorit S. Bhowmick +2 more
doaj +1 more source
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Socio‐Occupational Functioning after Subthalamic Deep Brain Stimulation in Parkinson's Disease
Abstract Background Socio‐occupational functioning in patients with Parkinson's disease (PD) treated with subthalamic nucleus deep brain stimulation (STN‐DBS) is not fully captured by standard motor and quality‐of‐life scales. Objectives To characterize patient‐reported socio‐occupational functioning after STN‐DBS and explore associated clinical and ...
Gabriele Imbalzano +7 more
wiley +1 more source
High Prevalence and Clinical Impact of Fibromyalgia in Functional Motor Disorder
Abstract Background Fibromyalgia is characterized by widespread pain, fatigue, sleep and cognitive symptoms. It overlaps clinically with functional motor disorder (FMD), yet its prevalence and impact in FMD remain uncertain. Objective To determine the prevalence of fibromyalgia in FMD using the current criteria and evaluate its effects on motor ...
Tereza Serranová +6 more
wiley +1 more source

