title: [A PARK8 form of Parkinson's disease: a mutational analysis of the LRRK2 gene in Russian population].
abstract: A recently described form of Parkinson's disease - PARK8 - is caused by mutations in the novel LRRK2 gene on chromosome 12q12. The most common mutation in this gene is the substitution G2019S and we studied it for the first time in a large group of Russian Slavonic patients (311 patients) with Parkinson's disease including 295 sporadic and 16 familial cases. The mutation LRRK2-G2019S was identified in 1% of patients examined (3 cases) and was not found in a group of population control. The clinical picture of all patients with the LRRK2-G2019S mutation was typical for levodopa-responsive parkinsonism and age of disease onset varied widely (from 39 to 71 years). Two different PARK8-linked haplotypes were found in carriers of the mutation that suggested the independent origin of the G2019S mutation on different chromosomes. The identification of mutations in the LRRK2 gene in patients with "ordinary" sporadic Parkinson's disease has serious implications for medical genetic counseling and prognosis in respective families.
authors: M I
authors: MI
authors: Shadrina
authors: S N
authors: SN
authors: Illarioshkin
authors: G Kh
authors: GKh
authors: Bagyeva
authors: E V
authors: EV
authors: Bespalova
authors: T B
authors: TB
authors: Zagorodskaia
authors: P A
authors: PA
authors: Slominskiĭ
authors: E D
authors: ED
authors: Markova
authors: S A
authors: SA
authors: Kliushnikov
authors: S A
authors: SA
authors: Limborskaia
authors: I A
authors: IA
authors: Ivanova-Smolenskaia
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011159:Population Surveillance; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012426:Russia / Q000453:epidemiology
chemical_list: D004247:DNA; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases