[Clinical and genetic analysis of juvenile parkinsonism in Russia].
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.
Zagorovskaia
T B
TB
Illarioshkin
S N
SN
Slominskiĭ
P A
PA
Ivanova-Smolenskaia
I A
IA
Markova
E D
ED
Limborskaia
S A
SA
Levin
O S
OS
Miloserdova
O V
OV
Proskokova
T N
TN
Bagyeva
B Kh
BKh
Brice
A
A
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
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein