Glucocerebrosidase mutations in diffuse Lewy body disease.

Parkinsonism Relat Disord 2011 Jan;17(1):55-7

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2010.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721925PMC
January 2011
16 Reads

Publication Analysis

Top Keywords

lewy body
16
body disease
8
parkinson's disease
8
diffuse lewy
8
gba mutations
8
diagnosis diffuse
4
pathological diagnosis
4
disease previous
4
previous studies
4
studies appears
4
cases pathological
4
4/59 cases
4
study identified
4
disorders study
4
identified gba
4
lewy
4
68% 4/59
4
appears gba
4
mutations associated
4
brainstem/limbic distribution
4

Similar Publications