Glucocerebrosidase mutations in diffuse Lewy body disease.

ABSTRACT: Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.

SUBMITTER: Nishioka K 

PROVIDER: S-EPMC4721925 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature