title: Frequency of a specific cytochrome P4502D6B (CYP2D6B) mutant allele in clinically differentiated groups of patients with Parkinson disease.
abstract: The frequency of the cytochrome P4502D6B CYP2D6B (29B) mutant allele has been determined in three clinically distinct groups of patients with Parkinson disease. No differences in mutation frequency among the patients with the rigidity-akinetic and monosymptomatic tremor forms has been observed compared to the healthy control group, while in the group with akinetic-rigidity tremor symptoms the frequency of heterozygous wt/29B individuals was significantly increased. Therefore, individuals bearing the CYP2D6B mutation appear to be predisposed to the development of this particular form of Parkinson disease, and the presence of the 29B mutation in the genotype may serve as an additional diagnostic criteriaum for the clinical differentiation of patients with Parkinson disease.
authors.affiliation: Petersburg Institute of Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
authors.forename: S N
authors.initials: SN
authors.lastname: Akhmedova
authors.forename: E A
authors.initials: EA
authors.lastname: Pushnova
authors.forename: A F
authors.initials: AF
authors.lastname: Yakimovsky
authors.forename: V V
authors.initials: VV
authors.lastname: Avtonomov
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: D000368:Aged; D000483:Alleles; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000235:genetics; D009127:Muscle Rigidity / Q000235:genetics; D009154:Mutation; D010300:Parkinson Disease / Q000145:classification* / Q000209:etiology / Q000235:genetics*; D014202:Tremor / Q000235:genetics
chemical_list: D003577:Cytochrome P-450 Enzyme System