Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease


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There is an increased incidence of Parkinson's disease among obligate carriers of the common glucocerebrosidase mutations, and among patients with Parkinson disease there is an increased number who are carriers of glucocerebrosidase mutations. A Gaucher mutation is considered a susceptibility factor for Parkinson's disease. Osteopontin single-nucleotide polymorphism–66 is associated with Lewy body disease and considered a susceptibility factor. The aim of this study was to ascertain whether Gaucher patients with parkinsonism carry the osteopontin single-nucleotide polymorphism-66 polymorphic genotype TT to a greater extent than other Gaucher patients.


Seventy adult patients with at least 1 allele having the common N370S Gaucher mutation including 10 patients with Parkinson's disease were included.


There was no statistically significant difference in incidence of the TT genotype in patients with clinically symptomatic Parkinson's disease (88.9%) and other Gaucher patients (72.1%).


This may partly explain the increased incidence of Parkinson's disease associated with Gaucher mutations. © 2011 Movement Disorder Society