一例 Machado-Joseph 病的临床表现及基因突变分析。
Clinical manifestations and gene mutation in a case of Machado-Joseph disease.
机构信息
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.
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.
出版信息
Neural Regen Res. 2012 Dec 15;7(35):2842-7. doi: 10.3969/j.issn.1673-5374.2012.35.013.
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.
本研究报告了一例 75 岁女性 Machado-Joseph 病患者，其表现为不稳定行走和手部握持不准确，持续 8 个月后逐渐恶化。入院时体格检查显示小脑性共济失调和高血压病史。头颅 MRI 显示小脑和脑干萎缩。基因分析显示，ataxin-3（ATXN3）基因第 10 外显子的 CAG 三核苷酸重复异常扩增，导致患者 70-81 个 CAG 重复，并有显著阳性家族史。
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