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Parkinsonism Relat Disord. 2011 Jan;17(1):55-7. doi: 10.1016/j.parkreldis.2010.09.009.

Glucocerebrosidase mutations in diffuse Lewy body disease.

Author information

1
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

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.

PMID:
20971030
PMCID:
PMC4721925
DOI:
10.1016/j.parkreldis.2010.09.009
[Indexed for MEDLINE]
Free PMC Article

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