Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
| Autor: | Elena Lezcano, Juan Carlos Gómez-Esteban, M.C. González-Fernández, Maite Alvarez-Alvarez, Owen A. Ross, Fernando Velasco, Marian M. de Pancorbo, Roberto Ciordia, Fernando Gómez-Busto, María B. Rodríguez-Martínez, Matthew J. Farrer, Juan J. Zarranz, Ignacio F. Mata |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Parkinson's disease Population DNA Mutational Analysis Glycine Disease Biology Protein Serine-Threonine Kinases Arginine Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Diaspora Parkinsonian Disorders medicine Serine Humans Genetic Predisposition to Disease education Aged Genetics Family Health education.field_of_study Parkinsonism Haplotype Middle Aged medicine.disease LRRK2 nervous system diseases Neurology Spain Mutation (genetic algorithm) Mutation Female Neurology (clinical) Geriatrics and Gerontology |
| Zdroj: | Parkinsonismrelated disorders. 13(8) |
| ISSN: | 1353-8020 |
| Popis: | 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. r 2007 Elsevier Ltd. All rights reserved. |
| Databáze: | OpenAIRE |
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