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

Z.-F. Zhang、Liru、Li -、Longxing、Chen Chen、Jie Jie、Huang

2012中国神经再生研究：英文版Neuroscience被引 1

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. 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.

引用本文（GB/T 7714）

Z.-F. Zhang, Liru, Li -, 等. Clinical manifestations and gene mutation in a case of Machado-Joseph disease[J]. 中国神经再生研究：英文版, 2012.

引文网络

参考文献与被引分析加载中…

本站仅收录题录与摘要供学习参考，全文版权归属出版方；如有侵权请联系我们删除。