Open AccessParkinsonism Associated with Glucocerebrosidase Mutation
Author(s) -
Mun-Kyung Sunwoo,
Seung Min Kim,
Sarah Lee,
Phil Hyu Lee
Publication year - 2011
Publication title -
journal of clinical neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.208
H-Index - 45
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2011.7.2.99
Subject(s) - glucocerebrosidase , parkinsonism , heterozygote advantage , medicine , putamen , parkinson's disease , mutation , compound heterozygosity , disease , genetics , gastroenterology , allele , biology , gene
Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations.
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