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Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.

Journal article
Authors Andrea Carmine Belin
Marie Westerlund
Olof Sydow
Karin Lundströmer
Anna Håkansson
Hans Nissbrandt
Lars Olson
Dagmar Galter
Published in Movement disorders : official journal of the Movement Disorder Society
Volume 21
Issue 10
Pages 1731-4
ISSN 0885-3185
Publication year 2006
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 1731-4
Language en
Links dx.doi.org/10.1002/mds.21016
Keywords Adult, Aged, Aged, 80 and over, Case-Control Studies, Cohort Studies, Female, Genetics, Population, Heterozygote Detection, Humans, Male, Middle Aged, Mutation, genetics, Parkinson Disease, diagnosis, genetics, Penetrance, Protein-Serine-Threonine Kinases, genetics, Reference Values, Sweden, Variation (Genetics), genetics
Subject categories Molecular neurobiology, Neurology

Abstract

Specific variants of Leucine-rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case-control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95-year-old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant.

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