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 50 条

[41] BETA-A4 PROTEIN DEPOSITION IN FAMILIAL ALZHEIMERS-DISEASE WITH THE MUTATION IN CODON 717 OF THE BETA-A4 AMYLOID PRECURSOR PROTEIN GENE AND SPORADIC ALZHEIMERS-DISEASE
CAIRNS, NJ
CHADWICK, A
LANTOS, PL
LEVY, R
ROSSOR, MN
NEUROSCIENCE LETTERS, 1993, 149 (02) : 137 - 140
[42] ROLE OF AMYLOID PROTEIN IN ALZHEIMERS-DISEASE
不详
AMERICAN FAMILY PHYSICIAN, 1989, 39 (05) : 394 - +
[43] AMYLOID PROTEIN AS A MARKER IN ALZHEIMERS-DISEASE
DUYCKAERTS, C
DELAERE, P
HAUW, JJ
GAZETTE MEDICALE, 1990, 97 (02): : 11 - 11
[44] INCREASED BETA-AMYLOID RELEASE AND LEVELS OF AMYLOID PRECURSOR PROTEIN (APP) IN FIBROBLAST CELL-LINES FROM FAMILY MEMBERS WITH THE SWEDISH ALZHEIMERS-DISEASE APP670/671 MUTATION
JOHNSTON, JA
COWBURN, RF
NORGREN, S
WIEHAGER, B
VENIZELOS, N
WINBLAD, B
VIGOPELFREY, C
SCHENK, D
LANNFELT, L
ONEILL, C
FEBS LETTERS, 1994, 354 (03) : 274 - 278
[45] SUBCELLULAR-LOCALIZATION OF BETA-AMYLOID PRECURSOR PROTEIN OF ALZHEIMERS-DISEASE
KAWAI, M
CRAS, P
LOWERY, D
GONZALEZDEWHITT, P
GREENBERG, B
GAMBETTI, P
PERRY, G
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1991, 50 (03): : 338 - 338
[46] PROCESSING OF THE BETA-AMYLOID PRECURSOR PROTEIN AND ITS REGULATION IN ALZHEIMERS-DISEASE
CHECLER, F
JOURNAL OF NEUROCHEMISTRY, 1995, 65 (04) : 1431 - 1444
[47] SUBCELLULAR-LOCALIZATION OF AMYLOID PRECURSOR PROTEIN IN SENILE PLAQUES OF ALZHEIMERS-DISEASE
KAWAI, M
CRAS, P
RICHEY, P
TABATON, M
LOWERY, DE
GONZALEZDEWHITT, PA
GREENBERG, BD
GAMBETTI, P
PERRY, G
AMERICAN JOURNAL OF PATHOLOGY, 1992, 140 (04): : 947 - 958
[48] NOVEL PRECURSOR OF ALZHEIMERS-DISEASE AMYLOID PROTEIN SHOWS PROTEASE INHIBITORY ACTIVITY
KITAGUCHI, N
TAKAHASHI, Y
TOKUSHIMA, Y
SHIOJIRI, S
ITO, H
NATURE, 1988, 331 (6156) : 530 - 532
[49] THE PATHOLOGY OF THE AMYLOID A4 PRECURSOR OF ALZHEIMERS-DISEASE
MASTERS, CL
BEYREUTHER, KT
ANNALS OF MEDICINE, 1989, 21 (02) : 89 - 90
[50] NEUROTOXICITY OF A FRAGMENT OF THE AMYLOID PRECURSOR ASSOCIATED WITH ALZHEIMERS-DISEASE
YANKNER, BA
DAWES, LR
FISHER, S
VILLAKOMAROFF, L
OSTERGRANITE, ML
NEVE, RL
SCIENCE, 1989, 245 (4916) : 417 - 420

← 1 2 3 4 5 →