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?
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收藏
页码：1564 / 1568
页数：5
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