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

作　　者：Bin Zhang Liru Li Longxing Chen Jie Huang 

机构地区：[1]Department of Neurology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology [2]Department of Emergency, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology [3]Department of Radiology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology

出　　处：《Neural Regeneration Research》2012年第35期2842-2847,共6页中国神经再生研究（英文版）

基　　金：funded by Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101,2011-110

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. Crania 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.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. Crania 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.

关 键 词：machado-Joseph disease clinical characteristics IMAGING molecular genetics spinocerebellarataxia-3 gene gene mutation exon 10 spinocerebellar ataxia nervous system disease 

分 类 号：R742.8[医药卫生—神经病学与精神病学]