Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

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 e...

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Veröffentlicht in:	Human molecular genetics 2010-05, Vol.19 (10), p.1998-2004
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Amino Acid Substitution - genetics Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Ethnic Groups Ethnic Groups - genetics Evolution, Molecular Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Haplotypes Haplotypes - genetics Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Life Sciences Medical sciences Molecular and cellular biology Mutation Mutation - genetics Neurology Neurons and Cognition Parkinson Disease Parkinson Disease - genetics Protein-Serine-Threonine Kinases Protein-Serine-Threonine Kinases - genetics
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Zusammenfassung:	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
ISSN:	0964-6906 1460-2083
DOI:	10.1093/hmg/ddq081