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DOI 10.1002/mds.23595

Медицинская библиотека · Movement disorders : official journal of the Movement Disorder Society · 2011

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

Ribner Avigayil, Altarescu Gheona, Zimran Ari, Elstein Deborah

СтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

BACKGROUND

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.

METHODS

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

RESULTS

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%).

CONCLUSIONS

This may partly explain the increased incidence of Parkinson's disease associated with Gaucher mutations.

Для цитирования: Ribner Avigayil, Altarescu Gheona, Zimran Ari, Elstein Deborah. Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.. Movement disorders : official journal of the Movement Disorder Society. 2011. DOI: 10.1002/mds.23595.

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