title: G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
abstract: Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.
authors.affiliation: Institut National de la Sante et de la Recherche Médicale U679 (formerly U289), Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.forename: Pablo
authors.initials: P
authors.lastname: Ibanez
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.forename: Pierre
authors.initials: P
authors.lastname: Pollak
authors.forename: François
authors.initials: F
authors.lastname: Tison
authors.forename: Myriem
authors.initials: M
authors.lastname: Tazir
authors.forename: Anne-Louise
authors.initials: AL
authors.lastname: Leutenegger
authors.forename: Joao
authors.initials: J
authors.lastname: Guimaraes
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bonnet
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D000352:Africa, Northern / Q000453:epidemiology / Q000208:ethnology; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005602:France / Q000453:epidemiology / Q000208:ethnology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008609:Mental Status Schedule / Q000706:statistics & numerical data; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; 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