LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
By L. Ozelius, G. Senthil, R. Saunders-Pullman, E. Ohmann, Amanda Deligtisch, M. Tagliati, A. Hunt, Christine Klein, B. Henick, S. Hailpern and 4 more. New England Journal of Medicine, 2006
707 citations recorded by the source corpus.
Subfields: Molecular Biology, Neurology
View Paper: https://www.semanticscholar.org/paper/7ca9ae0e0c949c60378652e6d5553eacb247eb29
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Citations in the corpus
- Genetics of Parkinson's disease. (2012, background): “Mutations in the LRRK2 gene are the most frequent known cause of late-onset autosomaldominant and sporadic PD, with a mutation frequency ranging from 2% to 40% in different populations (Brice 2005; Lesage et al. 2006; Ozelius et al. 2006).”
- Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, background): “The frequency of the most common mutation, G2019S, varies across populations, is most common in North African and Jewish populations [210, 213], while it seems to be rare in Asian [214, 215] and South African populations [216].”
- Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009, background): “The penetrance of G2019S-associated disease increased from 17% at age 50 to 85% at age 70 in an initial family-based study (68), but varied in subsequent reports, depending on sample size, study design (case–control or family-based methods), inclusion of probands in the analysis, methods of calculat”
- Diagnosis and treatment of Parkinson disease: molecules to medicine. (2006, background): “With the discovery that mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are more common than expected in certain populations (37, 38), there is little doubt that screening patients at risk will become increasingly common.”
- Parkinson's disease: genetics and pathogenesis. (2011, background): “We now recognize that in cohorts of Ashkenazi Jewish PD patients, approximately 20% have GBA mutations (91, 92) and at least 15% have LRRK2 mutations (68, 71).”