Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6.

Autosomal dominant cerebellar ataxias (ADCA) are characterised by clinical and genetic heterogeneity with a substantial overlap of clinical features and a variable degree of adherence to three distinct phenotypes according to Harding's clinical classification: ADCA type I, II, and III. 1 The availability of molecular genetic testing has provided increasing appreciation of a wider clinical spect...

Spinocerebellar ataxia type 6.

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

Metabolic characterization of spinocerebellar ataxia type 6.

BACKGROUND Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder characterized by slowly progressive ataxia and dysarthria. The mutational basis is an expanded CAG repeat sequence within the coding regions of the CACNL1A4 gene. Basic clinical, neuroimaging, and pathological, and epidemiological features have been described in the literature. However, the metabolic features of SCA...

Spinocerebellar ataxia type 6 in Brazil.

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...

The genetics of spinocerebellar ataxia and dystonia