%0 Journal Article %@ 0885-3185 %A Duran, R %A Mencacci, NE %A Angeli, AV %A Shoai, M %A Deas, E %A Houlden, H %A Mehta, A %A Hughes, D %A Cox, TM %A Deegan, P %A Schapira, AH %A Lees, AJ %A Limousin, P %A Jarman, PR %A Bhatia, KP %A Wood, NW %A Hardy, J %A Foltynie, T %D 2013 %F discovery:1380065 %J Movement Disorders %K Adult, Age of Onset, DNA, Databases, Genetic, European Continental Ancestry Group, Exons, Female, Gaucher Disease, Gene Frequency, Glucosylceramidase, Great Britain, Humans, Leukocytes, Lewy Body Disease, Male, Middle Aged, Molecular Sequence Data, Mutation, Open Reading Frames, Parkinson Disease, Protein-Serine-Threonine Kinases, Sequence Analysis, DNA, Ubiquitin-Protein Ligases, Young Adult %N 2 %P 232 - 236 %T The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease %U https://discovery.ucl.ac.uk/id/eprint/1380065/ %V 28 %X Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.