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

Citation
P. Nisipeanu et al., Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene, NEUROLOGY, 53(7), 1999, pp. 1602-1604
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
53
Issue
7
Year of publication
1999
Pages
1602 - 1604
Database
ISI
SICI code
0028-3878(19991022)53:7<1602:AJPIAJ>2.0.ZU;2-6
Abstract
We report a Jewish family of Yemenite origin in which three brothers born f rom a consanguineous marriage had juvenile parkinsonism. The DNA samples fr om three affected brothers and one healthy brother were analyzed for the li nkage to markers covering the autosomal-recessive juvenile parkinsonism (AR -JP) locus. A perfect homozygous cosegregation to the markers was found, gi ving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of whi ch 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 patien ts. The AR-JP gene also exists in the Jewish population.