Intergenerational instability and marked anticipation in SCA-17
Intergenerational instability and marked anticipation in SCA-17
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DOI：
10.1212/01.wnl.0000094123.09098.a0
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发表时间：
2003-11-25
期刊：
影响因子：
9.9
通讯作者：
De Michele, G
中科院分区：
文献类型：
--
作者：
Maltecca, F;Filla, A;De Michele, G
The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.
