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Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

2007; Elsevier BV; Volume: 13; Issue: 8 Linguagem: Inglês

10.1016/j.parkreldis.2007.04.003

1873-5126

M.C. González-Fernández, Elena Lezcano, Owen A. Ross, Juan Carlos Gómez‐Esteban, Fernando Gómez-Busto, Fernando Velasco, Maite Álvarez-Álvarez, María B. Rodríguez-Martínez, Roberto Ciordia, J.J. Zarranz, Matthew J. Farrer, Ignácio F. Mata, Marian M. de Pancorbo,

Lysosomal Storage Disorders Research

Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.