Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease
Date
2011
Authors
Bardien S.
Lesage S.
Brice A.
Carr J.
Journal Title
Journal ISSN
Volume Title
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Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the progressive and selective degeneration of nigrostriatal dopaminergic neurons. The discovery of at least six PD-causing genes in predominantly early-onset forms of the disorder has cemented a genetic component to the etiology. Notably, the discovery of mutations in the LRRK2 gene in patients presenting with typical 'sporadic' PD with ages at onset in their sixties and seventies has shifted paradigms in the field of PD research. The G2019S mutation in LRRK2 has been found in diverse populations worldwide and usually resides on a common haplotype revealing that many of these individuals share a common ancestor, probably of Middle Eastern origin. The only validated coding susceptibility alleles for PD, G2385R and R1628P, are both in this gene but to date have been found exclusively in Asian populations. Concomitant with genetic testing for PD is the need for appropriate and informed genetic counseling. Families of patients with LRRK2 mutations and susceptibility alleles need to be informed about the current lack of disease preventative strategies and the implications surrounding incomplete penetrance. In summary, single-handedly LRRK2 has had a major impact on the field of PD research and the findings have been of interest to both clinicians and scientists. We anticipate that other genes of such major impact exist for PD and look forward to their discovery. © 2010 Elsevier Ltd.
Description
Keywords
G2019S, LRRK2, PARK8, Parkinson's disease, Review, leucine rich repeat kinase 2, allele, gene, gene frequency, gene locus, gene mapping, gene mutation, genetic association, genetic screening, genetic susceptibility, human, leucine rich repeat kinase 2 gene, mutational analysis, Parkinson disease, priority journal, protein function, review
Citation
Parkinsonism and Related Disorders
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7
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960210306&partnerID=40&md5=f785d81dde9604addfb37b3521f81cd6
17
7
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960210306&partnerID=40&md5=f785d81dde9604addfb37b3521f81cd6