Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis

被引：0

作者：

Marios Panas

Georgia Karadima

Nikolaos Kalfakis

Ourania Psarrou

Paraskevi Floroskoufi

Athina Kladi

Michael B. Petersen

Demetris Vassilopoulos

机构：

[1] Department of Neurology of Athens,

[2] National University,undefined

[3] Eginition Hospital,undefined

[4] 74 Vass Sofias Ave.,undefined

[5] 11528 Athens,undefined

[6] Greece,undefined

[7] Tel.: +30-1-7 28 91 18,undefined

[8] Fax: +30-1-7 28 92 89,undefined

[9] Institute of Child Health. Aghia Sophia Childrens Hospital,undefined

[10] Athens,undefined

[11] Greece,undefined

来源：

Journal of Neurology | 2000年 / 247卷

关键词：

Key words Amyotrophic lateral sclerosis; Genetics; Presenilin-1 intron 8 polymorphism; Apoptosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n=72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P < 0.04) and allele (P < 0.03) distribution between patients and controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.

引用

页码：940 / 942

页数：2

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