Abstract：
We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, Parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.
摘要：
我们在此报告了一例VPS13D相关疾病，具有新的同质变体。一名58岁的日本妇女因缓慢进行性步态障碍和认知障碍而被转诊到我们医院。神经系统检查显示自发性下降，最近的记忆障碍，帕金森病,小脑共济失调,锥体的迹象，和自主神经功能障碍。多巴胺转运蛋白单光子发射计算机断层扫描显示两侧纹状体的摄取显着降低。全外显子组测序揭示了VPS13D基因(Arg3267Pro)的新的纯合错义变体。我们的病例表明VPS13D的突变可能导致帕金森病，除了先前报道的小脑共济失调和痉挛性截瘫。
