title: Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
abstract: We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA. clarimon@mail.nih.gov
authors.forename: Jordi
authors.initials: J
authors.lastname: Clarimon
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Ruth
authors.initials: R
authors.lastname: Djaldetti
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Hava
authors.initials: H
authors.lastname: Sroka
authors.forename: Yael
authors.initials: Y
authors.lastname: Barhom
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D035781:Siblings; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein