AMYLOID PRECURSOR PROTEIN MUTATION CAUSES ALZHEIMERS-DISEASE IN A SWEDISH FAMILY

被引：77

作者：

LANNFELT, L

BOGDANOVIC, N

APPELGREN, H

AXELMAN, K

LILIUS, L

HANSSON, G

SCHENK, D

HARDY, J

WINBLAD, B

机构：

[1] HUDDINGE UNIV HOSP,KAROLINSKA INST,ALZHEIMERS DIS RES CTR,DEPT GERIATR MED,S-14186 HUDDINGE,SWEDEN

[2] EAST HOSP,DEPT PATHOL,S-41685 GOTHENBURG,SWEDEN

[3] ATHENA NEUROSCI INC,S SAN FRANCISCO,CA 94080

[4] UNIV S FLORIDA,DEPT PSYCHIAT,SUNCOAST ALZHEIMERS DIS RES LAB,TAMPA,FL 33613

来源：

NEUROSCIENCE LETTERS | 1994年 / 168卷 / 1-2期

关键词：

ALZHEIMERS DISEASE; AMYLOID PRECURSOR PROTEIN; CHROMOSOME; 21; PLAQUE; TANGLE; MUTATION;

D O I：

10.1016/0304-3940(94)90463-4

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Since the report of a double mutation at codons 670 and 671 of the amyloid precursor protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's disease (AD), a carrier with dementia has died. Neuropathology confirmed the clinical diagnosis of AD. Genealogical investigations have confirmed that the two families are related to common founders. Two-point linkage analysis of the mutation versus the disease in the revised pedigree now gives a lod score of 7.62.

引用

页码：254 / 255

页数：2

共 5 条

[1] RELEASE OF EXCESS AMYLOID BETA-PROTEIN FROM A MUTANT AMYLOID BETA-PROTEIN PRECURSOR [J].