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Article (Scientific journals)
LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary.
Krüger, Rejko
2008In BMC Medicine, 6, p. 33
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Keywords :
Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Parkinson Disease/genetics; Penetrance; Protein-Serine-Threonine Kinases/genetics
Abstract :
[en] Parkinson's disease is the most common neurodegenerative movement disorder and affects about 2% of the population over the age of 60 years. In 2004, mutations in the LRRK2 gene were first described and turned out to be the most frequent genetic cause of familial and sporadic Parkinson's disease and may account for up to 40% of patients in distinct populations. Based on these findings, Latourelle and colleagues show that the penetrance of the most common LRRK2 mutation is higher in patients with familial compared with sporadic Parkinson's disease and identified a substantial number of affected relatives of mutation carriers not presenting with a LRRK2 mutation themselves. This commentary discusses the role of genetic and/or environmental susceptibility factors modulating the expressivity of the disease trait, how these factors may contribute to the phenomenon of phenocopies in genetically defined Parkinson's disease pedigrees, and how the findings of Latourelle and colleagues, published this month in BMC Medicine, relate to current concepts of genetic counselling.
Disciplines :
Genetics & genetic processes
Author, co-author :
Krüger, Rejko ;  University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
Language :
English
Title :
LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary.
Publication date :
2008
Journal title :
BMC Medicine
ISSN :
1741-7015
Publisher :
BioMed Central, United Kingdom
Volume :
6
Pages :
33
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
since 27 June 2014

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