临床神经病学杂志2017，Vol.30Issue(1)：50-53,4.
表现为帕金森综合征的肌张力障碍临床研究(附1例利用二代测序方法筛查报告)
A clinical study on dystonia manifested as parkinsonism( report of 1 next-generation sequencing attached case)
万志荣 1商梦晴 1冯涛2
作者信息
- 1. 100049 北京,航天中心医院神经内科
- 2. 首都医科大学附属北京天坛医院神经病学中心神经变性病科
- 折叠
摘要
Abstract
Objective To discuss the clinical features of dystonia manifested as Parkinsonism ( PKS) . Methods Clinical materials of a patient with dystonia manifested as PKS were analyzed retrospectively. Results The onset age of the young women was 31 years old, who was started asymmetrically with symptoms of claudication and tremor of the right foot. Levodopa had a short-term effect. The results of dopamine transporter ( DAT) PET showed that DAT in retrolentiform part were decreased significantly. Atypical Parkinson's disease was considered and she was treated as PKS long-termly. Subsequently, heterozygous mutation of c. 268-4T>A (NM_018105) in DYT6 gene was found through the next-generation sequencing, which was a kind of splicing mutation and confirmed by the first-generation sequencing. Conclusions Patients with dystonia might share similar clinical manifestations with PKS. Particularly, they should be differentiated with young-onset Parkinson's disease combined with focal dystonia. Clinical observation and genetic testing are important approaches to differentiate them.关键词
帕金森综合征/肌张力障碍/DYT6型/二代测序/一代测序Key words
parkinsonism/dystonia/DYT6 type/next-generation sequencing/first-generation sequencing分类
医药卫生引用本文复制引用
万志荣,商梦晴,冯涛..表现为帕金森综合征的肌张力障碍临床研究(附1例利用二代测序方法筛查报告)[J].临床神经病学杂志,2017,30(1):50-53,4.
