title: G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
abstract: LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.
authors.affiliation: Neurology Service, Coimbra University Hospital, Coimbra, Portugal.
authors.forename: Jose Miguel
authors.initials: JM
authors.lastname: Bras
authors.forename: Rita Joao
authors.initials: RJ
authors.lastname: Guerreiro
authors.forename: Maria Helena
authors.initials: MH
authors.lastname: Ribeiro
authors.forename: Cristina
authors.initials: C
authors.lastname: Januario
authors.forename: Ana
authors.initials: A
authors.lastname: Morgadinho
authors.forename: Catarina Resende
authors.initials: CR
authors.lastname: Oliveira
authors.forename: Luis
authors.initials: L
authors.lastname: Cunha
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D011174:Portugal / Q000453:epidemiology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
chemical_list: D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine