SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE) IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE

被引：4

作者：

ALMQVIST, E ^{[1
]}

LAKE, S ^{[1
]}

AXELMAN, K ^{[1
]}

JOHANSSON, K ^{[1
]}

WINBLAD, B ^{[1
]}

机构：

[1] KAROLINSKA INST,HUDDINGE UNIV HOSP,DEPT GERIAT MED,ALZHEIMERS DIS RES CTR,B56,S-14186 HUDDINGE,SWEDEN

来源：

JOURNAL OF NEURAL TRANSMISSION-PARKINSONS DISEASE AND DEMENTIA SECTION | 1993年 / 6卷 / 02期

关键词：

ALZHEIMERS DISEASE; CHROMOSOME-21; AMYLOID PRECURSOR PROTEIN; GENETICS; DOWNS SYNDROME;

D O I：

10.1007/BF02261009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Screening for the APP 717 Val --> Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.

引用

页码：151 / 156

页数：6

共 50 条

[31] THE APP GENE CODON 717 MISSENSE MUTATION IS RARE IN FAMILIAL AND NONFAMILIAL ALZHEIMERS-DISEASE
SCHELLENBERG, GD
ANDERSON, L
ODAHL, S
WIJSMAN, EM
SADOVNICK, AD
BALL, MJ
LARSON, EB
KUKULL, WA
MARTIN, GM
BIRD, TD
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 492 - 492
[32] No founder effect in three novel Alzheimer's disease families with APP 717 Val->Ile mutation
Campion, D
Brice, A
Hannequin, D
Charbonnier, F
Dubois, B
Martin, C
Michon, A
Penet, C
Bellis, M
Calenda, A
Martinez, M
Agid, Y
ClergetDarpoux, F
Frebourg, T
JOURNAL OF MEDICAL GENETICS, 1996, 33 (08) : 661 - 664
[33] MOLECULAR AND PROSPECTIVE PHENOTYPIC CHARACTERIZATION OF A PEDIGREE WITH FAMILIAL ALZHEIMERS-DISEASE AND A MISSENSE MUTATION IN CODON 717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
KARLINSKY, H
VAULA, G
HAINES, JL
RIDGLEY, J
BERGERON, C
MORTILLA, M
TUPLER, RG
PERCY, ME
ROBITAILLE, Y
NOLDY, NE
YIP, TCK
TANZI, RE
GUSELLA, JF
BECKER, R
BERG, JM
MCLACHLAN, DRC
STGEORGEHYSLOP, PH
NEUROLOGY, 1992, 42 (08) : 1445 - 1453
[34] PATHOLOGICAL-CHANGES IN THE BRAIN OF A PATIENT WITH FAMILIAL ALZHEIMERS-DISEASE HAVING A MISSENSE MUTATION AT CODON-717 IN THE AMYLOID PRECURSOR PROTEIN GENE
MANN, DMA
JONES, D
SNOWDEN, JS
NEARY, D
HARDY, J
NEUROSCIENCE LETTERS, 1992, 137 (02) : 225 - 228
[35] NO EVIDENCE THAT COMMON ALLELIC VARIATION IN THE AMYLOID PRECURSOR PROTEIN (APP) GENE CONFERS SUSCEPTIBILITY TO ALZHEIMERS-DISEASE
LIDDELL, MB
BAYER, AJ
OWEN, MJ
HUMAN MOLECULAR GENETICS, 1995, 4 (05) : 853 - 858
[36] Japanese siblings with missense mutation (717Val->Ile) in amyloid precursor protein of early-onset Alzheimer's disease
Matsumura, Y
Kitamura, E
Miyoshi, K
Yamamoto, Y
Furuyama, J
Sugihara, T
NEUROLOGY, 1996, 46 (06) : 1721 - 1723
[37] GENE DOSAGE OF THE AMYLOID-BETA PRECURSOR PROTEIN IN ALZHEIMERS-DISEASE
PODLISNY, MB
LEE, G
SELKOE, DJ
SCIENCE, 1987, 238 (4827) : 669 - 671
[38] TAU-PATHOLOGY IN A CASE OF FAMILIAL ALZHEIMERS-DISEASE WITH A VALINE TO GLYCINE MUTATION AT POSITION-717 IN THE AMYLOID PRECURSOR PROTEIN
HANGER, DP
MANN, DMA
NEARY, D
ANDERTON, BH
NEUROSCIENCE LETTERS, 1992, 145 (02) : 178 - 180
[39] AMYLOID PRECURSOR PROTEIN (APP) IN CORTEX AND STRIATUM IN ALZHEIMERS-DISEASE (AD) - AN IMMUNOHISTOCHEMICAL STUDY
GEARING, M
WILSON, RW
UNGER, ER
SHELTON, ER
CHAN, HW
MIRRA, SS
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1991, 50 (03): : 314 - 314
[40] AMYLOID PRECURSOR PROTEIN GENE MUTATION AT CODON-670/671 IN FAMILIAL ALZHEIMERS-DISEASE IN SWEDEN
LANNFELT, L
JOHNSTON, J
BOGDANOVICH, N
COWBURN, R
BIOCHEMICAL SOCIETY TRANSACTIONS, 1994, 22 (01) : 176 - 179

← 1 2 3 4 5 →