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

被引：0

作者：

An, Li ^{[1
]}

Yao, Sheng ^{[1
]}

Liu, Jianguo ^{[1
]}

Qi, Xiaokun ^{[1
]}

Duan, Feng ^{[1
]}

Sun, Chenjing ^{[1
]}

机构：

[1] Peoples Liberat Army Gen Hosp, Med Ctr 6, Dept Neurol, Fucheng Rd, Beijing 100048, Peoples R China

来源：

INTERNATIONAL JOURNAL OF NEUROSCIENCE | 2024年 / 134卷 / 12期

关键词：

Repeat expansion diseases; Huntington's disease; spinocerebellar ataxia 17; 41 CAG REPEATS; PATIENT;

D O I：

10.1080/00207454.2023.2273766

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

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?

引用

页码：1564 / 1568

页数：5

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