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 available and clinical awareness increases, more such patients are expected to be diagnosed.
Lau
K K
KK
Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong. dominickklau@hotmail.com
Au
K M
KM
Chen
M L
ML
Li
H L
HL
Sheng
B
B
Chan
A Y W
AY
D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D018911:Trinucleotide Repeats; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type