Article
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Human molecular genetics - 15 May 2010
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
Abstract excerpt
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...
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