Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…Clinico-genetic correlation in Indian Spinocerebellar ataxia Type 1 (SCA1) patients
Objective: To conduct a clinical and genetic analysis of SCA 1 in Indian population. Background: Spinocerebellar ataxia type1 (SCA1) is a neurodegenerative disease caused by…MicroRNAs Unveil Metabolic Imbalance in Spinocerebellar Ataxia Type-2
Objective: To correlate differentially expressed non-coding microRNA of peripheral blood mononuclear cells (PBMCs) with SCA2 pathogenesis. Background: Spinocerebellar ataxia aype-2 (SCA2), the most common SCA…Evaluation of Balance in Hereditary Ataxias
Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…Electrophysiological characteristics of tremor in spinocerebellar ataxia type12 (SCA-12) and essential tremor (ET)
Objective: The aim of the study was to describe electrophysiological features of tremor in SCA12 patients and to compare it with that in ET patients.…Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38
Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…Balance in Spinocerebellar Ataxia (SCA): Comparison Between Type 10 and Type 3
Objective: To compare the balance in patients with SCA10 with SCA3. Background: Decreased balance and motor coordination are the main symptoms of Spinocerebellar Ataxias (SCA).…Spinocerebellar ataxia type-17: An Indian Scenario
Objective: We aimed to investigate status of SCA17 in Indian population and tried to minimise the category of unidentified cerebellar ataxia cases. Background: Spinocerebellar ataxia…Severity Assessment, Functional Capacity and Balance in Patients with Spinocerebellar Ataxias (SCAs): comparison between types 3 and 10.
Objective: To compare the differences in the evolution in terms of severity, functional independence and balance in patients with SCAs type 3 and 10 Background:…
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