title: Parkinsonism among Gaucher disease carriers.
abstract: An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.
authors.affiliation: Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892-3708, USA.
authors.forename: O
authors.initials: O
authors.lastname: Goker-Alpan
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: M E
authors.initials: ME
authors.lastname: LaMarca
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
authors.forename: A
authors.initials: A
authors.lastname: McInerney-Leo
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020734:Parkinsonian Disorders / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D010375:Pedigree
chemical_list: D005962:Glucosylceramidase