Analysis of the Parkin deletion in sporadic and familial Parkinson's disease

被引：17

作者：

Krüger, R

Vieira-Säcker, AMM

Kuhn, W

Müller, T

Woitalla, D

Schöls, L

Przuntek, H

Epplen, JT

Riess, O ^{[1
]}

机构：

[1] Ruhr Univ Bochum, Dept Human Mol Genet, D-44780 Bochum, Germany

[2] Ruhr Univ Bochum, Dept Neurol, D-44780 Bochum, Germany

来源：

JOURNAL OF NEURAL TRANSMISSION | 1999年 / 106卷 / 02期

关键词：

early-onset parkinsonism; PARK; 2; parkin; Parkinson's disease;

D O I：

10.1007/s007020050148

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Recently a mutation in the parkin gene has been identified as the cause for an autosomal-recessively inherited form of early onset Parkinson's disease (EOPD). The disease causing minimal deletion has been defined as a homozygous exon 4 loss in the parkin gene among Japanese patients. We investigated 140 sporadic and familial EOPD patients of German ancestry for the exon 4 deletion in the parkin gene. None of our patients exhibited a homozygous deletion of exon 4, suggesting a minor role of this mutation for EOPD in Caucasians. Nevertheless a detailed mutation analysis is warranted to explore the overall significance of mutations in the parkin gene in EOPD.

引用

页码：159 / 163

页数：5

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