Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

Neurology. 2006 Sep 12;67(5):908-10. doi: 10.1212/01.wnl.0000230215.41296.18. Epub 2006 Jun 21.

Abstract

The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized alpha-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Asparagine / genetics
  • Autopsy
  • Brain / pathology
  • DNA Mutational Analysis / methods
  • Female
  • Glucosylceramidase / genetics*
  • Humans
  • Isoleucine / genetics
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / metabolism
  • Lewy Body Disease / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics
  • Parkinson Disease / pathology
  • Risk Factors
  • Synucleins / metabolism
  • Threonine / genetics

Substances

  • Synucleins
  • Isoleucine
  • Threonine
  • Asparagine
  • Glucosylceramidase