Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype
Clinical Neurology and Neurosurgery(2022)
摘要
•SCA17 accounts for 2.8 % among Russian patients with unspecified ataxia or Huntington disease-like phenotype.•The core clinical features in SCA17 patients included ataxia, movement disorders, psychiatric and cognitive disturbances.•Most of SCA17 cases were sporadic which should be kept in mind planning genetic testing in patients with ataxia and chorea.
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关键词
Ataxia,Chorea,TBP,Expansion,Phenotype
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