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LRRK2 and Parkinson's disease in Norway.
Acta Neurol Scand Suppl. 2007; 187:72-5.AN

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.

Authors+Show Affiliations

Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway. mathias.toft@rikshospitalet.noNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17419834

Citation

Toft, M, et al. "LRRK2 and Parkinson's Disease in Norway." Acta Neurologica Scandinavica. Supplementum, vol. 187, 2007, pp. 72-5.
Toft M, Haugarvoll K, Ross OA, et al. LRRK2 and Parkinson's disease in Norway. Acta Neurol Scand Suppl. 2007;187:72-5.
Toft, M., Haugarvoll, K., Ross, O. A., Farrer, M. J., & Aasly, J. O. (2007). LRRK2 and Parkinson's disease in Norway. Acta Neurologica Scandinavica. Supplementum, 187, 72-5.
Toft M, et al. LRRK2 and Parkinson's Disease in Norway. Acta Neurol Scand Suppl. 2007;187:72-5. PubMed PMID: 17419834.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LRRK2 and Parkinson's disease in Norway. AU - Toft,M, AU - Haugarvoll,K, AU - Ross,O A, AU - Farrer,M J, AU - Aasly,J O, PY - 2007/4/11/pubmed PY - 2007/7/7/medline PY - 2007/4/11/entrez SP - 72 EP - 5 JF - Acta neurologica Scandinavica. Supplementum JO - Acta Neurol Scand Suppl VL - 187 N2 - 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. SN - 0065-1427 UR - https://www.unboundmedicine.com/medline/citation/17419834/LRRK2_and_Parkinson's_disease_in_Norway_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0065-1427&date=2007&volume=187&issue=&spage=72 DB - PRIME DP - Unbound Medicine ER -