Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…A Diagnostic Algorithm for Pediatric Early Onset Ataxia
Objective: To provide a clinical diagnostic algorithm for pediatric Early Onset Ataxia (EOA) that can contribute to an increased diagnostic yield. Background: In children, EOA…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…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…Occupational Therapy for patients with Parkinson’s disease in the context of Bangladesh
Objective: To determine impact of Occupational Therapy for patients with Parkinson’s disease in the context of Bangladesh. Background: Patients with Parkinson’s disease are always at risk…Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan
Objective: To study the clinical presentation of ataxic patients with CACNA1A mutations in a Taiwanese cohort. Background: Mutations of CACNA1A gene is the genetic cause…The scale for assessment and rating of ataxia in early onset ataxia; always a reliable biomarker?
Objective: To determine the reliability and discriminant validity of the Scale for Assessment and Rating of Ataxia (SARA) in early onset ataxia. Background: Early onset…Can quantitative analysis of the “finger-to-nose test” discern between EOA and other conditions of coordination impairment?
Objective: In Early Onset Ataxia (EOA), we investigated whether quantitative analysis employing motion sensors could provide reliable and discriminative outcomes. Background: Many pediatric conditions can…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.