title: High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).
abstract: The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD.
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Sierra
authors.forename: Isabel
authors.initials: I
authors.lastname: González-Aramburu
authors.forename: Pascual
authors.initials: P
authors.lastname: Sánchez-Juan
authors.forename: Coro
authors.initials: C
authors.lastname: Sánchez-Quintana
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Polo
authors.forename: José
authors.initials: J
authors.lastname: Berciano
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D019683:Penetrance; D017354:Point Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases