Dilemma in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Diseaseï¼Comorbidity or Independent Disease?
Int J Neurosci
; : 1-9, 2023 Oct 19.
Article
em En
| MEDLINE
| ID: mdl-37855597
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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01-internacional
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MEDLINE
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En
Ano de publicação:
2023
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Article