title: [Clinical and genetic analysis of juvenile parkinsonism in Russia].
abstract: Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical analyses of patients examined confirmed the phenotypical polymorphism of "parkinopathy". We also showed the absence of asymmetric manifestation--an important and underestimated so far sign of the disease. The results of the study may be considered as a valuable clue to the clinical diagnosis of parkin-related juvenile parkinsonism in Russian population and implemented for mutation screening and medico-genetic counseling of affected families.
authors.forename: T B
authors.initials: TB
authors.lastname: Zagorovskaia
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaia
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
authors.forename: O S
authors.initials: OS
authors.lastname: Levin
authors.forename: O V
authors.initials: OV
authors.lastname: Miloserdova
authors.forename: T N
authors.initials: TN
authors.lastname: Proskokova
authors.forename: B Kh
authors.initials: BKh
authors.lastname: Bagyeva
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D005091:Exons; D017353:Gene Deletion; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic; D012426:Russia; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein