title: LRRK2 mutations are a common cause of Parkinson's disease in Spain.
abstract: 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.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: I F
authors.initials: IF
authors.lastname: Mata
authors.forename: O A
authors.initials: OA
authors.lastname: Ross
authors.forename: J
authors.initials: J
authors.lastname: Kachergus
authors.forename: C
authors.initials: C
authors.lastname: Huerta
authors.forename: R
authors.initials: R
authors.lastname: Ribacoba
authors.forename: G
authors.initials: G
authors.lastname: Moris
authors.forename: M
authors.initials: M
authors.lastname: Blazquez
authors.forename: L M
authors.initials: LM
authors.lastname: Guisasola
authors.forename: C
authors.initials: C
authors.lastname: Salvador
authors.forename: C
authors.initials: C
authors.lastname: Martinez
authors.forename: M
authors.initials: M
authors.lastname: Farrer
authors.forename: V
authors.initials: V
authors.lastname: Alvarez
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases