LRRK2 mutations are a common cause of Parkinson's disease in Spain

• Published in: European journal of neurology Vol. 13; no. 4; pp. 391 - 394
• Main Authors: Mata, I. F., Ross, O. A., Kachergus, J., Huerta, C., Ribacoba, R., Moris, G., Blazquez, M., Guisasola, L. M., Salvador, C., Martinez, C., Farrer, M., Alvarez, V.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2006
• Subjects: Aged; DNA Mutational Analysis; Female; G2019S; Genetic Predisposition to Disease; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; LRRK2; Male; Middle Aged; Mutation; Parkinson Disease - genetics; Parkinson's disease; Polymorphism, Single Nucleotide; Protein-Serine-Threonine Kinases - genetics; Spain
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/j.1468-1331.2006.01256.x

Pathogenic mutations in the leucine‐rich repeat kinase 2 gene (LRRK2; PARK8) have been implicated in autosomal dominant, late‐onset parkinsonism. The LRRK2 6055G > A (G2019S) mutation is the most common reported to date, and has been observed in a number of different European populations. So far, only the LRRK2 4321C > G (R1441G) mutation has been identified in the Spanish population. Herein we have assessed the frequency of G2019S in a referral‐based series of 225 patients with Parkinson's disease (PD) from the region of Asturias, Northern Spain. The mutant allele was identified in five (2.7%) of the sporadic late‐onset patients and was not present in control subjects. All carriers displayed genetic profiles consistent with the same haplotype, as previously reported for Lrrk2 G2019S‐positive subjects. None of these patients presented with a family history of parkinsonism at the time of diagnosis. Thus, approximately 5% of sporadic patients with PD from the North of Spain have either Lrrk2 G2019S or R1441G substitutions.