Article
[Clinical and genetic analysis of juvenile parkinsonism in Russia].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2004
Zagorovskaia T B, Illarioshkin S N, Slominskiĭ P A, Ivanova-Smolenskaia I A, Markova E D, Limborskaia S A, Levin O S, Miloserdova O V, Proskokova T N, Bagyeva B Kh, Brice A
Abstract excerpt
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...
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