Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene

Parkinsonism Relat Disord. 2022 Mar:96:88-90. doi: 10.1016/j.parkreldis.2022.01.019. Epub 2022 Jan 29.

Abstract

A patient with Parkinson's disease (PD) who was examined as a candidate for DBS was initially rejected due to extensive brain calcifications. Upon second opinion and planning of trajectories she underwent successful surgery. Genetic analyses identified a mutation in SLC20A2, a gene known to cause brain calcifications, but no mutation known to cause PD was found.

Keywords: Brain calcifications; Deep brain stimulation; Early-onset Parkinson's disease; Genetics of Parkinson's disease; SLC20A2.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcinosis* / genetics
  • Deep Brain Stimulation*
  • Female
  • Genetic Testing
  • Humans
  • Mutation / genetics
  • Parkinson Disease* / genetics
  • Parkinson Disease* / therapy
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III