P. Nisipeanu et al., Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene, NEUROLOGY, 53(7), 1999, pp. 1602-1604
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.