Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

被引：4

作者：

Orlacchio, A

Kawarai, T

Massaro, AM

St George-Hyslop, PH

Sorbi, S

机构：

[1] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON M5S 3H2, Canada

[2] Toronto Hosp, Dept Med Neurol, Toronto, ON M5T 2S8, Canada

[3] ASL 9, Isola Delba, Italy

[4] Univ Florence, Dipartimento Sci Neurol & Psichiat, I-50134 Florence, Italy

来源：

NEUROSCIENCE LETTERS | 2000年 / 285卷 / 02期

基金：

英国医学研究理事会;

关键词：

amyotrophic lateral sclerosis; linkage analysis; copper chaperone for superoxide dismutase; Cu/Zn superoxide dismutase 1;

D O I：

10.1016/S0304-3940(00)01032-6

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We investigated the segregation of the copper chaperone for the superoxide dismutase (CCS) gene in two Italian families with amyotrophic lateral sclerosis lacking the mutations in superoxide dismutase 1 gene. We analyzed a total of 56 individuals; six people were affected. Diagnoses were made using the El Escorial criteria. The results of our study provide no evidence of a linkage between markers flanking the CCS gene and familial amyotrophic lateral sclerosis (FALS) in these FALS kindreds. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.

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页码：83 / 86

页数：4

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