A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
نویسندگان
چکیده
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic movements and hyperreflexia. The findings of MRI not only showed cerebellar and cerebral atrophy, but also revealed putaminal rim hyperintensity on T2-weighted images. We identified a heterozygously expanded CAG/CAA repeat (45/36) within the TATA-binding protein gene, leading to a diagnosis of SCA17. These results show that a 45 CAG/CAA repeat is pathological, giving rise to early-onset SCA17.
منابع مشابه
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
BACKGROUND Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Because the number of triplets in patients with SCA17 in previous studies ranged from 43 to 63, the normal number of trinucleotide units has been considered to be 42 or less. However, some healthy subjects in SC...
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Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene. This study aimed to assess the frequency of SCA17 in patients from mainland China. Analysis of CAG/CAA expansion in this gene was performed in 263 patients consisting of 100 probands with dominantly inherited ataxia...
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ورودعنوان ژورنال:
- Internal medicine
دوره 47 24 شماره
صفحات -
تاریخ انتشار 2008