Glucocerebrosidase mutations in diffuse Lewy body disease.
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.
Nishioka
Kenya
K
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ross
Owen A
OA
Vilariño-Güell
Carles
C
Cobb
Stephanie A
SA
Kachergus
Jennifer M
JM
Mann
David M A
DM
Snowden
Julie
J
Richardson
Anna M T
AM
Neary
David
D
Robinson
Christopher A
CA
Rajput
Alex
A
Papapetropoulos
Spiridon
S
Mash
Deborah C
DC
Pahwa
Rajesh
R
Lyons
Kelly E
KE
Wszolek
Zbigniew K
ZK
Dickson
Dennis W
DW
Farrer
Matthew J
MJ
D000368:Aged; D001921:Brain / Q000201:enzymology / Q000473:pathology; D001933:Brain Stem / Q000201:enzymology / Q000473:pathology; D002540:Cerebral Cortex / Q000201:enzymology / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008032:Limbic System / Q000201:enzymology / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics
D004247:DNA; D005962:Glucosylceramidase