title: Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease.
abstract: Several pathogenic mutations in the LRRK2 gene have been implicated in familial and sporadic cases of Parkinson's disease (PD). We screened 103 sporadic French PD patients for the presence of the LRRK2 R1441G and G2019S mutations. The R1441G mutation was absent in our PD sporadic cases, but the G2019S mutation was present in 2 of them (1.9%). Clinical features in our 2 patients were not different from classic PD. One of our patients was of Berberian (North Africa) origin. Our 2 patients displayed genetic profiles consistent with the same ancestral haplotype as previously reported for carriers of the LRRK2 G2019S mutation.
authors.affiliation: Inserm U. 573, Centre Paul Broca, Paris, France.
authors.forename: Benoît
authors.initials: B
authors.lastname: Funalot
authors.forename: William C
authors.initials: WC
authors.lastname: Nichols
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-Tur
authors.forename: Géraldine
authors.initials: G
authors.lastname: Mercier
authors.forename: Gérard
authors.initials: G
authors.lastname: Lucotte
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D005820:Genetic Testing; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases