Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

Mol Genet Metab. 2011 Aug;103(4):410-2. doi: 10.1016/j.ymgme.2011.04.015. Epub 2011 May 5.


Mutations in the glucocerebrosidase (GBA) gene have been implicated in increased formation of Lewy bodies (LBs) in Parkinson's disease (PD). We found GBA mutation status not to be significantly associated with the density of cortical LBs, after adjusting for sex, age at death, duration of PD and presence of dementia. Comparison of GBA carriers to PD controls found no difference in Alzheimer's disease pathological findings. Our results do not support GBA carriers to have a more advanced neuropathologic disease i.e. increased density of protein aggregates.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / metabolism
  • Heterozygote
  • Humans
  • Lewy Bodies / genetics
  • Lewy Bodies / metabolism
  • Lewy Bodies / pathology*
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / enzymology*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology


  • Glucosylceramidase