Spinocerebellar ataxia 17 resembling multiple system atrophy: a case report and literature review
10.3760/cma.j.cn113694-20240418-00277
- VernacularTitle:疑似多系统萎缩的脊髓小脑性共济失调17型1例并文献复习
- Author:
Zhihui GUO
1
;
Haojie LIN
1
;
Lirong JIN
1
Author Information
1. 复旦大学附属中山医院神经内科，上海200032
- Publication Type:Journal Article
- Keywords:
Spinocerebellar ataxia 17;
Multiple system atrophy;
Small range of expansions
- From:
Chinese Journal of Neurology
2025;58(1):87-94
- CountryChina
- Language:Chinese
-
Abstract:
Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box binding protein ( TBP) gene. According to CAG size range, there are 2 clusters: reduced-penetrance in low-range expansions and full-penetrance in larger expansions. Here, a patient genetically diagnosed with SCA17 and with 43 CAG repeats in the TBP gene, presenting symptoms resembling multiple system atrophy (MSA), is reported. Further review of previously reported cases of SCA17 with a small range of expansions shows the clinical manifestations of SCA17 are highly heterogeneous, of which clinicians need to have sufficient awareness. For patients clinically suspected of having MSA, even if their clinical features and imaging manifestations more strongly support the sporadic neurodegenerative disease, SCA17 should still be considered as one of the differential diagnoses.
