The emergence of Parkinson disease among patients with Gaucher disease

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):249-59. doi: 10.1016/j.beem.2014.08.007. Epub 2014 Aug 23.

Abstract

In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level. It has been an unexpected happenstance that it has been discovered that a rare monogenetic disease has an interface at many points with a neurological disorder of the elderly that has both familial and sporadic forms: to date there is no cure for either of these disorders.

Keywords: Gaucher disease; Parkinson disease; α-synuclein; β-glucocerebrosidase.

Publication types

  • Review

MeSH terms

  • Gaucher Disease / complications
  • Gaucher Disease / genetics*
  • Genetic Predisposition to Disease
  • Glucosylceramidase / genetics*
  • Humans
  • Mutation
  • Parkinson Disease / complications
  • Parkinson Disease / genetics*

Substances

  • Glucosylceramidase