Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
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.
González-Fernández
María C
MC
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
E
Ross
Owen A
OA
Gómez-Esteban
Juan C
JC
Gómez-Busto
Fernando
F
Velasco
Fernando
F
Alvarez-Alvarez
Maite
M
Rodríguez-Martínez
María B
MB
Ciordia
Roberto
R
Zarranz
Juan J
JJ
Farrer
Matthew J
MJ
Mata
Ignacio F
IF
de Pancorbo
Marian M
MM
D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics; D013030:Spain / Q000453:epidemiology
D012694:Serine; D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine