Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation

Parkinsonism Relat Disord. 2021 Nov:92:72-75. doi: 10.1016/j.parkreldis.2021.10.020. Epub 2021 Oct 24.

Abstract

We report on a patient with Parkinson's disease and dementia who underwent DBS with excellent response in motor features; the genotype is heterozygous for a novel LRP10 variant in trans with a GBA variant. He had a more severe phenotype compared to the father who only carries the LRP10 variant.

Keywords: Deep brain stimulation; Familial Parkinson's disease; GBA; LRP10; Parkinson's disease and dementia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Deep Brain Stimulation*
  • Dementia / genetics
  • Dementia / therapy*
  • Genetic Variation
  • Glucosylceramidase / genetics*
  • Humans
  • LDL-Receptor Related Proteins / genetics*
  • Male
  • Medical Illustration
  • Middle Aged
  • Parkinson Disease / genetics
  • Parkinson Disease / therapy*
  • Phenotype
  • Treatment Outcome

Substances

  • LDL-Receptor Related Proteins
  • LRP10 protein, human
  • GBA protein, human
  • Glucosylceramidase