Lorraine V Kalia, Anthony E Lang, Lili-Naz Hazrati, Shinsuke Fujioka, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross, Vivianna M Van Deerlin, John Q Trojanowski, Howard I Hurtig, Roy N Alcalay, Karen S Marder, Lorraine N Clark, Carles Gaig, Eduardo Tolosa, Javier Ruiz-Martínez, Jose F Marti-Masso, Isidre Ferrer, Adolfo López de Munain, Samuel M Goldman, Birgitt Schüle, J William Langston, Jan O Aasly, Maria T Giordana, Vincenzo Bonifati, Andreas Puschmann, Margherita Canesi, Gianni Pezzoli, Andre Maues De Paula, Kazuko Hasegawa, Charles Duyckaerts, Alexis Brice, A Jon Stoessl, Connie Marras
IMPORTANCE: Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in LRRK2-related PD...
January 2015: JAMA Neurology