Spinocerebellar ataxia type 6.
نویسندگان
چکیده
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.
منابع مشابه
O-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 49 شماره
صفحات -
تاریخ انتشار 2001