Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
- 30 June 2006
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 21 (10) , 1731-1734
- https://doi.org/10.1002/mds.21016
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 SocietyKeywords
This publication has 14 references indexed in Scilit:
- Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PDParkinsonism & Related Disorders, 2005
- Altered α-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarinTrends in Neurosciences, 2005
- Pathophysiology, pleotrophy and paradigm shifts: genetic lessons from Parkinson's diseaseBiochemical Society Transactions, 2005
- Escaping Parkinson's disease: A neurologically healthy octogenarian with the LRRK2 G2019S mutationMovement Disorders, 2005
- The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patientsNeuroscience Letters, 2005
- Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European PopulationsAmerican Journal of Human Genetics, 2005
- Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's DiseaseNeuron, 2004
- Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic PathologyNeuron, 2004
- NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traitsAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2003
- A Sequencing Method Based on Real-Time PyrophosphateScience, 1998