Article
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
BMC medicine - 5 Nov 2008
Latourelle Jeanne C, Sun Mei, Lew Mark F, Suchowersky Oksana, Klein Christine, Golbe Lawrence I, Mark Margery H, Growdon John H, Wooten G Frederick, Watts Ray L, Guttman Mark, Racette Brad A, Perlmutter Joel S, Ahmed Anwar, Shill Holly A, Singer Carlos, Goldwurm Stefano, Pezzoli Gianni, Zini Michela, Saint-Hilaire Marie H, Hendricks Audrey E, Williamson Sally, Nagle Michael W, Wilk Jemma B, Massood Tiffany, Huskey Karen W, Laramie Jason M, DeStefano Anita L, Baker Kenneth B, Itin Ilia, Litvan Irene, Nicholson Garth, Corbett Alastair, Nance Martha, Drasby Edward, Isaacson Stuart, Burn David J, Chinnery Patrick F, Pramstaller Peter P, Al-hinti Jomana, Moller Anette T, Ostergaard Karen, Sherman Scott J, Roxburgh Richard, Snow Barry, Slevin John T, Cambi Franca, Gusella James F, Myers Richard H
Abstract excerpt
BACKGROUND: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2...
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