Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington's disease: comorbidity or independent disease?

The International journal of neuroscience(2023)

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摘要
Both Huntington's disease (HD) and Spinocerebellar ataxia 17 (SCA17) mutations showed expanded CAG repeats, with overlapping clinical manifestation: motor disorders, psychiatric symptoms and cognitive impairments. Therefore, SCA17 is also called Huntington like disease (HD-like, HDL) type 4. In this paper, we reported that one patient had 47 CAG repeats in HTT gene and 42 CAG repeats in TBP gene. There is a dilemma in differentiation of SCA 17 from HD in one patient, never been reported before. Is the diagnosis comorbidity of HD with SCA17 or HD only?
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关键词
Repeat expansion diseases, Huntington's disease, spinocerebellar ataxia 17
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