rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
8
|
pubmed:dateCreated |
2004-11-19
|
pubmed:abstractText |
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.
|
pubmed:language |
rus
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:issn |
1997-7298
|
pubmed:author |
pubmed-author:BagyevaB KhBKh,
pubmed-author:BriceAA,
pubmed-author:GiannacciniCC,
pubmed-author:IllarioshkinS NSN,
pubmed-author:Ivanova-SmolenskaiaI AIA,
pubmed-author:LevinO SOS,
pubmed-author:LimborskaiaS ASA,
pubmed-author:MarkovaE DED,
pubmed-author:MiloserdovaO VOV,
pubmed-author:ProskokovaT NTN,
pubmed-author:Slominski?P APA
|
pubmed:issnType |
Print
|
pubmed:volume |
104
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
66-72
|
pubmed:dateRevised |
2009-11-19
|
pubmed:meshHeading |
pubmed-meshheading:15554146-Adolescent,
pubmed-meshheading:15554146-Adult,
pubmed-meshheading:15554146-Age Factors,
pubmed-meshheading:15554146-Child,
pubmed-meshheading:15554146-Exons,
pubmed-meshheading:15554146-Gene Deletion,
pubmed-meshheading:15554146-Genetic Counseling,
pubmed-meshheading:15554146-Genetic Testing,
pubmed-meshheading:15554146-Humans,
pubmed-meshheading:15554146-Middle Aged,
pubmed-meshheading:15554146-Parkinsonian Disorders,
pubmed-meshheading:15554146-Pedigree,
pubmed-meshheading:15554146-Phenotype,
pubmed-meshheading:15554146-Point Mutation,
pubmed-meshheading:15554146-Polymorphism, Genetic,
pubmed-meshheading:15554146-Russia,
pubmed-meshheading:15554146-Ubiquitin-Protein Ligases
|
pubmed:year |
2004
|
pubmed:articleTitle |
[Clinical and genetic analysis of juvenile parkinsonism in Russia].
|
pubmed:publicationType |
Journal Article,
Comparative Study,
English Abstract,
Case Reports
|