title: Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease.
abstract: 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.
authors.affiliation: Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Parkkinen
authors.forename: Juliane
authors.initials: J
authors.lastname: Neumann
authors.forename: Sean S
authors.initials: SS
authors.lastname: O'Sullivan
authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000328:Adult; D000368:Aged; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology
chemical_list: D005962:Glucosylceramidase