A comparative study between OCT in SCA3 and 10
Objective: To describe OCT findings in spinocerebellar ataxia (SCA) type 10, correlate it with expansion size and disease severity and compare with those of SCA3…Quantitative evaluation of gait ataxia by triaxial accelerometers is more sensitive than SARA within 1.5 years.
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…Early diagnosis in Spinocerebellar Ataxias: Prospects for clinical alterations and ethical dilemmas during preclinical trials.
Objective: To assess the acceptation level and ethical concerns for participating in early intervention approaches in Spinocerebellar Ataxia type 2 preclinical carriers and to evaluate…TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…Effects of TRH therapy on the prism adaptation task in patients with spinocerebellar degeneration.
Objective: To reveal effects of TRH therapy on the prism adaptation task in patients with spinocerebellar degeneration (SCD). Background: TRH [Thyrotropin releasing hormone (protirelin tartrate)]…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India
Objective: To study phenotype and Quality of life determinant in patients with SCA-12. Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant,…Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)
Objective: To investigate the potential of nine candidate genes as transcriptional biomarkers of asymptomatic and symptomatic stages of spinocerebellar ataxia type 3 (SCA3). Background: An…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…
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