Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report
Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report
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DOI：
10.1038/jhg.2014.117
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发表时间：
2015-03-01
影响因子：
3.5
通讯作者：
Wang, Junling
中科院分区：
文献类型：
--
作者：
Zeng, Sheng;Zeng, Junsheng;Wang, Junling
一位年轻的中国男性患者被鉴定为Machado-Joseph病（MJD）/脊髓小脑共济失调3型纯合子。该患者有4年病史，主要表现为严重共济失调、眼球运动异常和锥体束征。脑部和颈脊髓的磁共振成像显示，尽管有严重的症状和肌电图的结果，但没有明显的异常。然而，脑干听觉诱发电位显示周边损害和视觉诱发电位显示中枢损害他的视觉通路。分子诊断显示该患者的CAG重复单位模式为71/71。该病例表明，MJD的纯合性增加了疾病的临床严重程度，这表明遗传教育是非常重要的。
A young Chinese male patient was identified as homozygous for Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3. This patient had a 4-year medical history mainly presenting severe ataxia, abnormal eye movement and pyramidal signs. Magnetic resonance imaging of the brain and cervical spinal cord revealed no obvious abnormality despite the severe symptoms and the findings of an electromyogram. However, brainstem auditory evoked potential indicated peripheral impairment and visual evoked potential indicated central impairment of his visual pathways. Molecular diagnosis revealed the pattern of CAG repeat units of this patient was 71/71. This case demonstrates that homozygosity for MJD enhances the clinical severity of the disease, which suggests that genetic education is of great importance.