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PMID: 16790605 Published · ppublish English Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

Neurology ·Vol. 67 ·No. 5 ·2006-09-12 ·Pages 908-10

Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E

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.

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,metabolism,pathology Male Middle Aged Mutation Parkinson Disease/genetics,pathology Risk Factors Synucleins/metabolism Threonine/genetics
Chemicals
Synucleins Isoleucine Threonine Asparagine Glucosylceramidase
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Goker-Alpan O
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-3708, USA.
Giasson B I
Eblan M J
Nguyen J
Hurtig H I
Lee V M-Y
Trojanowski J Q
Sidransky E
Article Info
Journal
Neurology
Abbr.
Neurology
ISSN
1526-632X
DOI
10.1212/01.wnl.0000230215.41296.18
Published
2006-09-12
Epub
2006-00-21
Pages
908-10
Language
English
Region
United States
NLM ID
0401060
Subset
IM
Grants
NIA NIH HHS · AG09215 · United States
Intramural NIH HHS · United States
External Links
PubMed source DOI: 10.1212/01.wnl.0000230215.41296.18 View journal details
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