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.
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页码：254 / 255
页数：2
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