Abstract
The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized alpha-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein.
Publication types
-
Comparative Study
-
Research Support, N.I.H., Extramural
-
Research Support, N.I.H., Intramural
MeSH terms
-
Adult
-
Aged
-
Aged, 80 and over
-
Asparagine / genetics
-
Autopsy
-
Brain / pathology
-
DNA Mutational Analysis / methods
-
Female
-
Glucosylceramidase / genetics*
-
Humans
-
Isoleucine / genetics
-
Lewy Body Disease / genetics*
-
Lewy Body Disease / metabolism
-
Lewy Body Disease / pathology
-
Male
-
Middle Aged
-
Mutation*
-
Parkinson Disease / genetics
-
Parkinson Disease / pathology
-
Risk Factors
-
Synucleins / metabolism
-
Threonine / genetics
Substances
-
Synucleins
-
Isoleucine
-
Threonine
-
Asparagine
-
Glucosylceramidase