title: G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia.
abstract: Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group.
authors.affiliation: Petersburg Nuclear Physics Institute, RAS, St. Petersburg, Russia. sopchelina@hotmail.com
authors.forename: Sofya N
authors.initials: SN
authors.lastname: Pchelina
authors.forename: Andrei F
authors.initials: AF
authors.lastname: Yakimovskii
authors.forename: Olga N
authors.initials: ON
authors.lastname: Ivanova
authors.forename: Anton K
authors.initials: AK
authors.lastname: Emelianov
authors.forename: Andrei H
authors.initials: AH
authors.lastname: Zakharchuk
authors.forename: Alexander L
authors.initials: AL
authors.lastname: Schwarzman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012426:Russia / Q000453:epidemiology; 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