title: LRRK2 R1441G in Spanish patients with Parkinson's disease.
abstract: Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2 4321C>G (R1441G) mutation was originally identified in Spanish families originating from the Basque region. Within this ethnicity, Lrrk2 R1441G substitutions have been suggested as a frequent cause of disease. Herein we have assessed another referral-based series of 225 patients with PD from the neighboring region of Asturias, Northern Spain. The LRRK2 4321C>G mutation was found in 5 (2.7%) of sporadic, late-onset patients and was not present in control subjects. Although patients with a Lrrk2 R1441G substitution are apparently unrelated, they share a chromosome 12q12 haplotype not found in controls and indicative of a common founder.
authors.affiliation: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224,USA.
authors.forename: Ignacio F
authors.initials: IF
authors.lastname: Mata
authors.forename: Julie P
authors.initials: JP
authors.lastname: Taylor
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Mary
authors.initials: M
authors.lastname: Hulihan
authors.forename: Cecilia
authors.initials: C
authors.lastname: Huerta
authors.forename: Carlos
authors.initials: C
authors.lastname: Lahoz
authors.forename: Marta
authors.initials: M
authors.lastname: Blazquez
authors.forename: Luis M
authors.initials: LM
authors.lastname: Guisasola
authors.forename: Carlos
authors.initials: C
authors.lastname: Salvador
authors.forename: Renee
authors.initials: R
authors.lastname: Ribacoba
authors.forename: Carmen
authors.initials: C
authors.lastname: Martinez
authors.forename: Matthew
authors.initials: M
authors.lastname: Farrer
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; 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