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.

journal_name

Neurology

journal_title

Neurology

authors

Nisipeanu P,Inzelberg R,Blumen SC,Carasso RL,Hattori N,Matsumine H,Mizuno Y

doi

10.1212/wnl.53.7.1602

subject

Has Abstract

pub_date

1999-10-22 00:00:00

pages

1602-4

issue

7

eissn

0028-3878

issn

1526-632X

journal_volume

53

pub_type

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