Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period

被引：5
作者：
Clarimon, J
Johnson, J
Djaldetti, R
Hernandez, D
Hattori, N
Sroka, H
Barhom, Y
Singleton, A
机构：
[1] NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
[2] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan
[3] Tel Aviv Univ, Sackler Sch Med, Felsenstein Res Ctr, IL-69978 Tel Aviv, Israel
来源：
MOVEMENT DISORDERS | 2005年 / 20卷 / 07期
关键词：
Parkinson's disease; genetics; Parkin; PARK2; clinical heterogeneity;
D O I：
10.1002/mds.20495
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report oil an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2. Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings. (c) 2005 Movement Disorder Society.
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收藏
页码：887 / 890
页数：4
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