TY - JOUR T1 - LRRK2 mutations are a common cause of Parkinson's disease in Spain. AU - Mata,I F, AU - Ross,O A, AU - Kachergus,J, AU - Huerta,C, AU - Ribacoba,R, AU - Moris,G, AU - Blazquez,M, AU - Guisasola,L M, AU - Salvador,C, AU - Martinez,C, AU - Farrer,M, AU - Alvarez,V, PY - 2006/4/29/pubmed PY - 2006/6/17/medline PY - 2006/4/29/entrez SP - 391 EP - 4 JF - European journal of neurology JO - Eur J Neurol VL - 13 IS - 4 N2 - 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. SN - 1351-5101 UR - https://www.unboundmedicine.com/medline/citation/16643318/LRRK2_mutations_are_a_common_cause_of_Parkinson's_disease_in_Spain_ L2 - https://doi.org/10.1111/j.1468-1331.2006.01256.x DB - PRIME DP - Unbound Medicine ER -