LRRK2 and Parkinson’s disease in Norway.

Saved in:
Bibliographic Details
Title: LRRK2 and Parkinson’s disease in Norway.
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
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 24541809
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=24541809
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
ResultId 1