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)

目的探讨表现为帕金森综合征(PKS)的肌张力障碍的临床特点。方法回顾性分析1例表现为PKS的肌张力障碍患者的临床资料。结果患者为青年女性,31岁起病,临床表现为右足跛行、震颤,不对称起病,应用左旋多巴短期有效,多巴胺转运体(DAT)PET双侧豆状核后部DAT分布明显减少,考虑不典型帕金森病,较长时间按PKS治疗。后利用二代测序法发现DYT6基因发生c.268-4T>A(NM_018105)杂合突变,突变方式为剪切突变,并经一代测序验证。结论肌张力障碍患者有时临床表现类似PKS,尤其需要与青年型帕金森病合并局灶性肌张力障碍相鉴别。临床观察、基因检测是鉴别的重要方式。

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 resuhs 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.