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

被引：42

作者：

Nisipeanu, P ^{[1
]}

Inzelberg, R

Blumen, SC

Carasso, RL

Hattori, N

Matsumine, H

Mizuno, Y

机构：

[1] Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel

[2] Tel Aviv Univ, Sackler Fac Med, Ramat Aviv, Israel

[3] Juntendo Univ, Sch Med, Tokyo 113, Japan

来源：

NEUROLOGY | 1999年 / 53卷 / 07期

关键词：

autosomal recessive juvenile parkinsonism; AR-JP; Parkin; Parkinson; familial; linkage; mutation; exon;

D O I：

10.1212/WNL.53.7.1602

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1602 / 1604

页数：3

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