Chinese homozygous Machado–Joseph disease/SCA3: a case report

Short Communication

Abstract

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.

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Journal of Human Genetics 60, 157-160 (March 2015) | doi:10.1038/jhg.2014.117, Chinese homozygous Machado–Joseph disease (MJD)/SCA3: a case report, Sheng Zeng, Junsheng Zeng, Miao He, Xianfeng Zeng, Yao Zhou, Zhen Liu, Hong Jiang, Beisha Tang and Junling Wang