A clinical study on dystonia manifested as parkinsonism( report of 1 next-generation sequencing attached case) / 临床神经病学杂志

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.