A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1

By M. Funayama, K. Hasegawa, H. Kowa, M. Saito, S. Tsuji, F. Obata. Annals of Neurology, 2002

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Evaluating drug targets through human loss-of-function genetic variation (2019, neutral): “…of LRRK2 mutations, as LRRK2 variants appear to occupy a spectrum of penetrance 75 . some variants exhibit Mendelian segregation with disease 76,77 , implying high risk; the G2019S variant is estimated to have ~32% penetrance 78 ; and other common variants are risk factors with odds ratios…”
Molecular pathophysiology of Parkinson's disease. (2005, neutral): “6-cM interval (PARK8, OMIM 607060) (Funayama et al. 2002).”
Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, background): “Previously, linkage to chromosome 12, where LRRK2 is situated, was demonstrated in a Japanese family [208].”
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. (2004, background): “These data contrast with the 70% penetrance originally observed in the Sagamihara kindred (Funayama et al., 2002).”
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. (2006, background): “Some cases have apparently Fpure_ nigral degeneration in the absence of Lewy bodies, and others may have symptoms such as dementia and amyotrophy that indicate damage to regions of the brain outside of the nigra (Funayama et al., 2002; Zimprich et al., 2004).”