title: Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene.
abstract: We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfect homozygous cosegregation to the markers was found, giving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of which are 0 cm apart from each other (nonparametric linkage score, 8.041; p = 0.000977). Exon 3 of the Parkin gene was homozygously deleted in all patients. The AR-JP gene also exists in the Jewish population.
authors.affiliation: Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel. neurology@hillel-yaffe.health.gov.il
authors.forename: P
authors.initials: P
authors.lastname: Nisipeanu
authors.forename: R
authors.initials: R
authors.lastname: Inzelberg
authors.forename: S C
authors.initials: SC
authors.lastname: Blumen
authors.forename: R L
authors.initials: RL
authors.lastname: Carasso
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: H
authors.initials: H
authors.lastname: Matsumine
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D004247:DNA / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008025:Ligases; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases; D015006:Yemen / Q000208:ethnology
chemical_list: D011506:Proteins; D004247:DNA; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases