Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia
Objective: To elucidate discriminative muscle ultrasound features in Friedreich's ataxia (FA) between pediatric (p-FA), intermediate (i-FA) and very late onset (VLOFA) subgroups. Background: Friedreich’s Ataxia…Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)
Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…Acute Stroke in Middle Cerebellar Peduncle in a Patient with FXTAS
Objective: Report a case of Fragile X associated Tremor/Ataxia Syndrome (FXTAS) with acute middle cerebellar peduncle (MCP) infarction, and highlight the potential susceptibility of the…Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective
Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…Urinary symptoms and Urodynamic findings in patients with SCAs and DRPLA
Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian…Comorbid Pediatric Early Onset Ataxia and Dystonia – Is the Cerebellum Involved?
Objective: In children with Early Onset Ataxia (EOA), we aimed to determine the prevalence of comorbid dystonia and to explore the pathogenesis by the shared…Cerebrotendinous Xanthomatosis: A Rare Lipid Storage Disease
Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to…Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia
Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Commonalities of prodromal non-motor symptoms between movement disorders
Objective: This study reviewed and compared evidence of nonmotor symptoms in prodromal phases in movement disorders including Parkinson disease, Atypical Parkinsonism (MSA, DLB, PSP), Huntington…
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