Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
- Lesage, Suzanne
- Patin, Etienne
- Condroyer, Christel
- Leutenegger, Anne-Louise
- Lohmann, Ebba
- Giladi, Nir
- Bar-Shira, Anat
- Belarbi, Soraya
- Hecham, Nassima
- Pollak, Pierre
- Ouvrard-Hernandez, Anne-Marie
- Bardien, Soraya
- Carr, Jonathan
- Benhassine, Traki
- Tomiyama, Hiroyuki
- Pirkevi, Caroline
- Hamadouche, Tarik
- Cazeneuve, Cécile
- Basak, A Nazli
- Hattori, Nobutaka
- Dürr, Alexandra
- Tazir, Meriem
- Orr-Urtreger, Avi
- Quintana-Murci, Lluis
- Brice, Alexis
DOIAbstract
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at <0.1% in East Asia, approximately 2% in European-descent patients and can reach frequencies of up to 15-40% in PD Ashkenazi Jews and North African Arabs. To ascertain the evolutionary dynamics of the G2019S mutation in different populations, we genotyped 74 markers spanning a 16 Mb genomic region around G2019S, in 191 individuals carrying the mutation from 126 families of different origins. Sixty-s...
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