中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2012, Vol. 7 ›› Issue (35): 2842-2847.

• 原著:退行性病与再生 • 上一篇    

马查多约瑟夫病的临床表现及基因突变

  

  • 收稿日期:2012-09-25 修回日期:2012-11-10 出版日期:2012-12-15 发布日期:2012-12-15

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

Bin Zhang1, Liru Li2, Longxing Chen3, Jie Huang1   

  1. 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, Shanghai 201499, China
    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, Shanghai 201499, China
    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, Shanghai 201499, China
  • Received:2012-09-25 Revised:2012-11-10 Online:2012-12-15 Published:2012-12-15
  • Contact: Jie Huang, Master, Associate chief physician, 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, Shanghai 201499, China hjie1970@163.com
  • About author:Bin Zhang★, Master, Chief physician, 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, Shanghai 201499, China

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Abstract:

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.

Key words: machado-Joseph disease, clinical characteristics, imaging, molecular genetics, spinocerebellar ataxia-3 gene, gene mutation, exon 10, spinocerebellar ataxia, nervous system disease