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

Abstract

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?

Keywords:

• Repeat expansion diseases
• Huntington’s disease
• spinocerebellar ataxia 17

Author contributions

The study was designed by Chenjing Sun. The manuscript writing was performed by Li An and Chenjing Sun. All authors have read and revised the manuscript critically.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data used to support the findings of this study are available from the corresponding author upon reasonable request.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.