G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
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.
Lesage
Suzanne
S
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.
Ibanez
Pablo
P
Lohmann
Ebba
E
Pollak
Pierre
P
Tison
François
F
Tazir
Myriem
M
Leutenegger
Anne-Louise
AL
Guimaraes
Joao
J
Bonnet
Anne-Marie
AM
Agid
Yves
Y
Dürr
Alexandra
A
Brice
Alexis
A
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*
D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine