医学
脑深部刺激
失智症
肌萎缩侧索硬化
帕金森病
痴呆
表型
突变
基因突变
生物信息学
疾病
神经科学
内科学
基因
遗传学
生物
作者
Yoon Seob Kim,Don Gueu Park,Min Seung Kim,Jung Han Yoon
摘要
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.
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