LRRK2 and Parkinson’s disease in Norway
Identifieur interne : 001033 ( Main/Exploration ); précédent : 001032; suivant : 001034LRRK2 and Parkinson’s disease in Norway
Auteurs : M. Toft [Norvège] ; K. Haugarvoll [Norvège, États-Unis] ; O. A. Ross [États-Unis] ; M. J. Farrer [États-Unis] ; J. O. Aasly [Norvège]Source :
- Acta Neurologica Scandinavica [ 0001-6314 ] ; 2007-05.
Descripteurs français
- Wicri :
- geographic : Norvège.
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Abstract
Objectives– Mutations in the LRRK2 gene have been associated with both familial and sporadic late‐onset Parkinson’s disease. A large number of mutations in this gene have been identified; however, for many of these variants, the pathogenicity and relative frequency are unknown. Herein, we investigate the frequency of a number of recently identified LRRK2 mutations in Norway. Methods– We genotyped eight putatively pathogenic LRRK2 mutations (R793M, R1067Q, I1371V, IVS31+3 A>G, M1869T, R1941H, T2356I and G2385R) in a series of 433 patients with Parkinson’s disease and 587 controls from Norway. An intronic polymorphism previously reported to be associated with disease susceptibility was also examined (rs10506151). Results– The Lrrk2 R793M substitution was found in two healthy individuals. No other LRRK2 mutations were identified in the Norwegian population, and furthermore no association was observed between rs10506151 and Parkinson’s disease (P = 0.41). Conclusions–LRRK2 mutations other than the Lrrk2 G2019S mutation are rare in Norway. Our results indicate that the Lrrk2 R793M substitution is most likely a rare polymorphism.
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DOI: 10.1111/j.1600-0404.2007.00852.x
Affiliations:
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Toft</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Rikshospitalet University Hospital, Oslo</wicri:regionArea><wicri:noRegion>Oslo</wicri:noRegion></affiliation></author><author><name sortKey="Haugarvoll, K" sort="Haugarvoll, K" uniqKey="Haugarvoll K" first="K." last="Haugarvoll">K. 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A large number of mutations in this gene have been identified; however, for many of these variants, the pathogenicity and relative frequency are unknown. Herein, we investigate the frequency of a number of recently identified LRRK2 mutations in Norway. Methods– We genotyped eight putatively pathogenic LRRK2 mutations (R793M, R1067Q, I1371V, IVS31+3 A>G, M1869T, R1941H, T2356I and G2385R) in a series of 433 patients with Parkinson’s disease and 587 controls from Norway. An intronic polymorphism previously reported to be associated with disease susceptibility was also examined (rs10506151). Results– The Lrrk2 R793M substitution was found in two healthy individuals. No other LRRK2 mutations were identified in the Norwegian population, and furthermore no association was observed between rs10506151 and Parkinson’s disease (P = 0.41). Conclusions–LRRK2 mutations other than the Lrrk2 G2019S mutation are rare in Norway. Our results indicate that the Lrrk2 R793M substitution is most likely a rare polymorphism.</div></front></TEI><affiliations><list><country><li>Norvège</li><li>États-Unis</li></country><region><li>Floride</li><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><country name="Norvège"><region name="Trøndelag"><name sortKey="Toft, M" sort="Toft, M" uniqKey="Toft M" first="M." last="Toft">M. Toft</name></region><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J. O." last="Aasly">J. O. Aasly</name><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J. O." last="Aasly">J. O. Aasly</name><name sortKey="Haugarvoll, K" sort="Haugarvoll, K" uniqKey="Haugarvoll K" first="K." last="Haugarvoll">K. Haugarvoll</name><name sortKey="Toft, M" sort="Toft, M" uniqKey="Toft M" first="M." last="Toft">M. 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