Results 111 to 120 of about 39,513 (283)

Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]

open access: yes, 2006
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

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

Deterioration of preexisting myoclonus following nifedipine use in parkinsonian syndrome: A case report

open access: yeseNeurologicalSci
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?

open access: yesTremor and Other Hyperkinetic Movements, 2015
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]

open access: yes, 2016
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

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy

open access: yesAnnals of Movement Disorders
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

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

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