Clinical manifestations and gene mutation in a case of Machado-Joseph disease

被引：0
作者：
Zhang, Bin [1 ]
Li, Liru [2 ]
Chen, Longxing [3 ]
Huang, Jie [1 ]
机构：
[1] Anhui Univ Sci & Technol, Affiliated Hosp, Shanghai Neurol Res Inst, Dept Neurol,Branch Hosp Fengxian,People Hosp 6, Shanghai 201499, Peoples R China
[2] Anhui Univ Sci & Technol, Affiliated Hosp, Shanghai Neurol Res Inst, Dept Emergency,Branch Hosp Fengxian,Peoples Hosp, Shanghai 201499, Peoples R China
[3] Anhui Univ Sci & Technol, Affiliated Hosp, Shanghai Neurol Res Inst, Dept Radiol,Branch Hosp Fengxian,Peoples Hosp 6, Shanghai 201499, Peoples R China
来源：
NEURAL REGENERATION RESEARCH | 2012年 / 7卷 / 35期
关键词：
machado-Joseph disease; clinical characteristics; imaging; molecular genetics; spinocerebellar ataxia-3 gene; gene mutation; exon; 10; spinocerebellar ataxia; nervous system disease; SPINOCEREBELLAR ATAXIA; CAG REPEAT; PHENOTYPE; TYPE-3;
D O I：
10.3969/j.issn.1673-5374.2012.35.013
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history.
引用
收藏
页码：2842 / 2847
页数：6
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