Hong Kong Med J 2005;11:207-9 | Number 3, June 2005
Spinocerebellar ataxia type 6
KK Lau, KM Au, ML Chen, HL Li, B Sheng, AYW Chan
Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong
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 available and clinical awareness increases, more such patients are expected to be diagnosed.
Key words: Alleles; Calcium channels; Genes, dominant; Spinocerebellar ataxias; Trinucleotide repeats
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