Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene
- 22 October 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 53 (7) , 1602
- https://doi.org/10.1212/wnl.53.7.1602
Abstract
Article 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.Keywords
This publication has 8 references indexed in Scilit:
- A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in EuropeHuman Molecular Genetics, 1999
- Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individualsAnnals of Neurology, 1998
- Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked RegionAmerican Journal of Human Genetics, 1998
- Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One FamilyAmerican Journal of Human Genetics, 1998
- Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonismNeurology, 1998
- Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismNature, 1998
- Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonismNeurology, 1996
- Familial juvenile parkinsonismNeurology, 1994