Article
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
European journal of human genetics : EJHG - 1 Apr 2008
Nuytemans Karen, Rademakers Rosa, Theuns Jessie, Pals Philippe, Engelborghs Sebastiaan, Pickut Barbara, de Pooter Tim, Peeters Karin, Mattheijssens Maria, Van den Broeck Marleen, Cras Patrick, De Deyn Peter Paul, van Broeckhoven Christine
Abstract excerpt
We determined the prevalence of mutations in two major functional domains of the leucine-rich repeat kinase 2 gene (LRRK2) in Belgian Parkinson's disease (PD) patients (N=304) of which 18.1% were familial PD patients. Ten patients were heterozygous for five different missense mutations (3.29%) of whom six carried the same mutation p.R1441C (1.97%). All six p.R1441C carriers were familial PD patients explaining...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alleles
- Amino Acid Sequence
- Belgium
- Female
- Founder Effect
- Haplotypes
- Humans