title: LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.
abstract: Mutations in the leucine-rich repat kinase 2 (LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of these mutations remains to be established. To determine the prevalence of G2019S and R1441G mutations in our population of Cantabria (Northern Spain), we recruited 105 consecutive PD patients and 310 controls and conducted genetic analysis of these mutations. G2019S was detected in eight late-onset patients (7.6%). Five of them had no relevant family history. R1441G was not detected in any of our study subjects. The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD.
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain. jinfante@humv.es
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
authors.forename: Eloy
authors.initials: E
authors.lastname: Rodríguez
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
authors.forename: Ignacio
authors.initials: I
authors.lastname: Mateo
authors.forename: Ana
authors.initials: A
authors.lastname: Fontalba
authors.forename: Julio
authors.initials: J
authors.lastname: Pascual
authors.forename: Agustín
authors.initials: A
authors.lastname: Oterino
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Polo
authors.forename: Carlos
authors.initials: C
authors.lastname: Leno
authors.forename: José
authors.initials: J
authors.lastname: Berciano
mesh_terms: D017668:Age of Onset; D000368:Aged; D000978:Antiparkinson Agents / Q000009:adverse effects / Q000627:therapeutic use; D005260:Female; D005787:Gene Frequency; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D007980:Levodopa / Q000009:adverse effects / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases