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

✍ Scribed by Andrea Carmine Belin; Marie Westerlund; Olof Sydow; Karin Lundströmer; Anna Håkansson; Hans Nissbrandt; Lars Olson; Dagmar Galter

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
64 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2006 Movement Disorder Society

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