Homozygous spinocerebellar ataxia type 3 in China: a case report

被引：0
作者：
Chen, Yuchao [1 ,2 ]
Li, Dan [1 ,2 ]
Wei, Minger [1 ]
Zhou, Menglu [1 ]
Zhang, Linan [3 ]
Yu, Jiaoyang [3 ]
Qiu, Mengqiu [1 ]
Jin, Yi [1 ]
Lu, Xiaodong [1 ]
机构：
[1] Hangzhou Normal Univ, Dept Neurol, Affiliated Hosp, 126 Wenzhou Rd, Hangzhou 310009, Peoples R China
[2] Hangzhou Normal Univ, Translat Med Ctr, Affiliated Hosp, Hangzhou, Peoples R China
[3] Hangzhou Normal Univ, Dept Intens Care Unit, Affiliated Hosp, Hangzhou, Peoples R China
来源：
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2021年 / 49卷 / 06期
关键词：
Spinocerebellar ataxia type 3; homozygous; clinical feature; repeat instability; gene dosage; stable transmission; MACHADO-JOSEPH-DISEASE; CAG REPEAT LENGTH; CLINICAL-FEATURES; INSTABILITY; GENE;
D O I：
10.1177/03000605211021370
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient's family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity.
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