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…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.…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…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…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…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.…Usefulness of Sway Area for Assessing Balance and Stability in People with Sporadic Adult Onset Cerebellar Ataxia
Objective: To assess usefulness of sway area using wearable devices by (1) comparison of variables with another neurodegenerative diseases (2) assessing correlation with the Scale…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…Cerebellar Ataxia case series study from southern Spain: Clinical and molecular description
Objective: Describe clinical features of a Cerebellar Ataxia non-Friedreich case series from southern Spain, and their molecular diagnosis. Background: Cerebellar Ataxias are a highly heterogeneous…Usefulness of a simple symptom assessment scale for multiple system atrophy: data from HoRC-MSA Project
Objective: To investigate the usefulness of a symptom assessment scale for multiple system atrophy (MSA) in Hokkaido, Japan from the data of the Hokkaido Rare-disease…
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