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PMID: 17540608 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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

Parkinsonism & related disorders ·Vol. 13 ·No. 8 ·2007-12-00 ·Pages 509-15

González-Fernández MC, Lezcano E, Ross OA, Gómez-Esteban JC, Gómez-Busto F, Velasco F, Alvarez-Alvarez M, Rodríguez-Martínez MB, Ciordia R, Zarranz JJ, Farrer MJ, Mata IF, de Pancorbo MM

Abstract

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.

MeSH Terms
Adult Aged Arginine/genetics DNA Mutational Analysis Family Health Female Genetic Predisposition to Disease Glycine/genetics Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Male Middle Aged Mutation Parkinsonian Disorders/epidemiology,genetics Protein Serine-Threonine Kinases/genetics Serine/genetics Spain/epidemiology
Chemicals
Serine Arginine LRRK2 protein, human Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Protein Serine-Threonine Kinases Glycine
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
González-Fernández María C
Servicio General de Investigación Genómica, Banco de ADN and Departamento de Z.y Biología Celular A., Universidad del País Vasco, Vitoria-Gasteiz, Spain.
Lezcano Elena
Ross Owen A
Gómez-Esteban Juan C
Gómez-Busto Fernando
Velasco Fernando
Alvarez-Alvarez Maite
Rodríguez-Martínez María B
Ciordia Roberto
Zarranz Juan J
Farrer Matthew J
Mata Ignacio F
de Pancorbo Marian M
Article Info
Journal
Parkinsonism & related disorders
Abbr.
Parkinsonism Relat Disord
ISSN
1353-8020
Published
2007-12-00
Epub
2007-00-30
Pages
509-15
Language
English
Region
England
NLM ID
9513583
Subset
IM
Grants
NINDS NIH HHS · P50 #NS40256 · United States
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