Department of Neurology, Ajou University School of Medicine, Suwon-si, South Korea.
Department of Neurology, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, South Korea.
Eur J Neurol. 2023 Aug;30(8):2583-2586. doi: 10.1111/ene.15824. Epub 2023 May 24.
Mutations in the gene encoding valosin-containing protein (VCP) are related to myriad medical conditions, including familial amyotrophic lateral sclerosis, inclusion body myopathy, and frontotemporal dementia. There are several reports of a link between these mutations and early onset Parkinson disease (PD).
We report a 53-year-old PD patient with VCP mutation who later developed motor complications, thus receiving subthalamic nucleus deep brain stimulation (DBS) at the age of 56 years. However, myopathy emerged 1.5 years after surgery.
With the phenotype variability of VCP, DBS should be carefully evaluated, considering the possible unfavorable long-term outcomes due to other symptoms of this mutation.
编码包含泛素结合酶的蛋白（VCP）的基因突变与多种医学病症相关，包括家族性肌萎缩侧索硬化症、包涵体肌病和额颞叶痴呆。有几例报告称这些突变与早发性帕金森病（PD）之间存在关联。
我们报告了一例 VCP 基因突变的 53 岁 PD 患者，该患者后来出现运动并发症，因此在 56 岁时接受了丘脑底核深部脑刺激（DBS）手术。然而，术后 1.5 年出现了肌病。
鉴于 VCP 表型的变异性，应仔细评估 DBS，因为这种突变的其他症状可能导致不利的长期预后。
