Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene

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...

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Bibliographic Details
Published inNeurology Vol. 53; no. 7; p. 1602
Main Authors Nisipeanu, P, Inzelberg, R, Blumen, S C, Carasso, R L, Hattori, N, Matsumine, H, Mizuno, Y
Format Journal Article
LanguageEnglish
Published United States 22.10.1999
Subjects
DNA - genetics
Exons
Gene Deletion
Genes, Recessive
Genetic Linkage
Haplotypes
Homozygote
Humans
Jews - genetics
Ligases
Lod Score
Male
Middle Aged
Mutation - genetics
Parkinsonian Disorders - genetics
Pedigree
Proteins - genetics
Ubiquitin-Protein Ligases
Yemen - ethnology
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Summary: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.
ISSN:0028-3878
DOI:10.1212/wnl.53.7.1602