Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation

Eur J Neurol. 2023 Aug;30(8):2583-2586. doi: 10.1111/ene.15824. Epub 2023 May 24.

Abstract

Background and purpose: 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).

Case description: 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.

Conclusions: 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.

Keywords: VCP; Parkinson disease; deep brain stimulation; myopathy; next generation sequencing; valosin-containing protein.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics
  • Deep Brain Stimulation*
  • Frontotemporal Dementia* / genetics
  • Frontotemporal Dementia* / therapy
  • Humans
  • Muscular Diseases*
  • Mutation
  • Osteitis Deformans* / genetics
  • Parkinson Disease* / genetics
  • Parkinson Disease* / therapy
  • Valosin Containing Protein / genetics

Substances

  • Valosin Containing Protein
  • Cell Cycle Proteins