Article
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
JAMA neurology - 1 Jan 2015
Kalia Lorraine V, Lang Anthony E, Hazrati Lili-Naz, Fujioka Shinsuke, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A, Van Deerlin Vivianna M, Trojanowski John Q, Hurtig Howard I, Alcalay Roy N, Marder Karen S, Clark Lorraine N, Gaig Carles, Tolosa Eduardo, Ruiz-Martínez Javier, Marti-Masso Jose F, Ferrer Isidre, López de Munain Adolfo, Goldman Samuel M, Schüle Birgitt, Langston J William, Aasly Jan O, Giordana Maria T, Bonifati Vincenzo, Puschmann Andreas, Canesi Margherita, Pezzoli Gianni, Maues De Paula Andre, Hasegawa Kazuko, Duyckaerts Charles, Brice Alexis, Stoessl A Jon, Marras Connie
Abstract excerpt
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...
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