4.2 Article

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

Journal

INTERNATIONAL JOURNAL OF NEUROSCIENCE
Volume -, Issue -, Pages -

Publisher

TAYLOR & FRANCIS LTD
DOI: 10.1080/00207454.2023.2273766

Keywords

Repeat expansion diseases; Huntington's disease; spinocerebellar ataxia 17

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This paper reports a dilemma in the differentiation of SCA 17 from HD in one patient, who had different numbers of CAG repeats in the HTT and TBP genes.
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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