LRRK2 and Parkinson’s disease in Norway.
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| Title: | LRRK2 and Parkinson’s disease in Norway. |
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| Authors: | Toft, M., Haugarvoll, K., Ross, O. A., Farrer, M. J., Aasly, J. O. |
| Source: | Acta Neurologica Scandinavica: Supplementum. May2007 Supplement 187, Vol. 115, p72-75. 4p. 1 Chart, 1 Graph. |
| Subjects: | Parkinson's disease, Genetic mutation, Genetic polymorphisms, Population genetics |
| Geographic Terms: | Norway |
| 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. [ABSTRACT FROM AUTHOR] |
| Copyright of Acta Neurologica Scandinavica: Supplementum is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 24541809 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: LRRK2 and Parkinson’s disease in Norway. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Toft%2C+M%2E%22">Toft, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Haugarvoll%2C+K%2E%22">Haugarvoll, K.</searchLink><br /><searchLink fieldCode="AR" term="%22Ross%2C+O%2E+A%2E%22">Ross, O. A.</searchLink><br /><searchLink fieldCode="AR" term="%22Farrer%2C+M%2E+J%2E%22">Farrer, M. J.</searchLink><br /><searchLink fieldCode="AR" term="%22Aasly%2C+J%2E+O%2E%22">Aasly, J. O.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Acta+Neurologica+Scandinavica%3A+Supplementum%22">Acta Neurologica Scandinavica: Supplementum</searchLink>. May2007 Supplement 187, Vol. 115, p72-75. 4p. 1 Chart, 1 Graph. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Parkinson's+disease%22">Parkinson's disease</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+polymorphisms%22">Genetic polymorphisms</searchLink><br /><searchLink fieldCode="DE" term="%22Population+genetics%22">Population genetics</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Norway%22">Norway</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: 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. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Acta Neurologica Scandinavica: Supplementum is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/j.1600-0404.2007.00852.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 72 Subjects: – SubjectFull: Parkinson's disease Type: general – SubjectFull: Genetic mutation Type: general – SubjectFull: Genetic polymorphisms Type: general – SubjectFull: Population genetics Type: general – SubjectFull: Norway Type: general Titles: – TitleFull: LRRK2 and Parkinson’s disease in Norway. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Toft, M. – PersonEntity: Name: NameFull: Haugarvoll, K. – PersonEntity: Name: NameFull: Ross, O. A. – PersonEntity: Name: NameFull: Farrer, M. J. – PersonEntity: Name: NameFull: Aasly, J. O. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2007 Supplement 187 Type: published Y: 2007 Identifiers: – Type: issn-print Value: 00651427 Numbering: – Type: volume Value: 115 Titles: – TitleFull: Acta Neurologica Scandinavica: Supplementum Type: main |
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