AGE-OF-ONSET IN FAMILIAL EARLY-ONSET ALZHEIMERS-DISEASE CORRELATES WITH GENETIC ETIOLOGY

被引：49

作者：

MULLAN, M ^{[1
]}

HOULDEN, H ^{[1
]}

CRAWFORD, F ^{[1
]}

KENNEDY, A ^{[1
]}

ROGUES, P ^{[1
]}

ROSSOR, M ^{[1
]}

机构：

[1] ST MARYS HOSP,SCH MED,DEPT NEUROL & BIOCHEM,LONDON,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 48卷 / 03期

关键词：

ETIOLOGIC SUBTYPES; TRANSMISSION; CHROMOSOME-14;

D O I：

10.1002/ajmg.1320480303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Age of onset is the most robust clinical feature demarcating aetiologic subtypes of familial Alzheimer's disease. It has previously been noted that early onset disease (arbitarily below the age of 65 years) conforms to an autosomal dominant pattern of transmission. Late onset disease is generally thought to have a more complex aetiology. We present data here suggesting that early onset disease can be subdivided by genetic aetiology with which age of onset correlates. In general, those pedigrees showing linkage to the chromosome 14 locus have a mean age of onset in the forties whereas those pedigrees with an APP mutation have an age of onset in the fifties. (C) 1993 Wiley-Liss, Inc.

引用

页码：129 / 130

页数：2

共 9 条

[1] EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE [J].

CHARTIERHARLIN, MC ;

CRAWFORD, F ;

HOULDEN, H ;

WARREN, A ;

HUGHES, D ;

FIDANI, L ;

GOATE, A ;

ROSSOR, M ;

ROQUES, P ;

HARDY, J ;

MULLAN, M .

NATURE, 1991, 353 (6347) :844-846

[2] SCREENING FOR MUTATIONS IN THE OPEN READING FRAME AND PROMOTER OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE IN FAMILIAL ALZHEIMERS-DISEASE - IDENTIFICATION OF A FURTHER FAMILY WITH APP717 VAL-]ILE [J].

FIDANI, L ;

ROOKE, K ;

CHARTIERHARLIN, MC ;

HUGHES, D ;

TANZI, R ;

MULLAN, M ;

ROQUES, P ;

ROSSOR, M ;

HARDY, J ;

GOATE, A .

HUMAN MOLECULAR GENETICS, 1992, 1 (03) :165-168

[3] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE [J].

GOATE, A ;

CHARTIERHARLIN, MC ;

MULLAN, M ;

BROWN, J ;

CRAWFORD, F ;

FIDANI, L ;

GIUFFRA, L ;

HAYNES, A ;

IRVING, N ;

JAMES, L ;

MANT, R ;

NEWTON, P ;

ROOKE, K ;

ROQUES, P ;

TALBOT, C ;

PERICAKVANCE, M ;

ROSES, A ;

WILLIAMSON, R ;

ROSSOR, M ;

OWEN, M ;

HARDY, J .

NATURE, 1991, 349 (6311) :704-706

[4] A LOCUS FOR FAMILIAL EARLY-ONSET ALZHEIMERS-DISEASE ON THE LONG ARM OF CHROMOSOME 14, PROXIMAL TO THE ALPHA-1-ANTICHYMOTRYPSIN GENE [J].

MULLAN, M ;

HOULDEN, H ;

WINDELSPECHT, M ;

FIDANI, L ;

LOMBARDI, C ;

DIAZ, P ;

ROSSOR, M ;

CROOK, R ;

HARDY, J ;

DUFF, K ;

CRAWFORD, F .

NATURE GENETICS, 1992, 2 (04) :340-342

[5] A PATHOGENIC MUTATION FOR PROBABLE ALZHEIMERS-DISEASE IN THE APP GENE AT THE N-TERMINUS OF BETA-AMYLOID [J].

MULLAN, M ;

CRAWFORD, F ;

AXELMAN, K ;

HOULDEN, H ;

LILIUS, L ;

WINBLAD, B ;

LANNFELT, L .

NATURE GENETICS, 1992, 1 (05) :345-347

[6]

MULLAN M, IN PRESS NEUROBIOL A

[7] A MUTATION IN THE AMYLOID PRECURSOR PROTEIN ASSOCIATED WITH HEREDITARY ALZHEIMERS-DISEASE [J].

MURRELL, J ;

FARLOW, M ;

GHETTI, B ;

BENSON, MD .

SCIENCE, 1991, 254 (5028) :97-99

[8] GENETIC-LINKAGE EVIDENCE FOR A FAMILIAL ALZHEIMERS-DISEASE LOCUS ON CHROMOSOME-14 [J].

SCHELLENBERG, GD ;

BIRD, TD ;

WIJSMAN, EM ;

ORR, HT ;

ANDERSON, L ;

NEMENS, E ;

WHITE, JA ;

BONNYCASTLE, L ;

WEBER, JL ;

ALONSO, ME ;

POTTER, H ;

HESTON, LL ;

MARTIN, GM .

SCIENCE, 1992, 258 (5082) :668-671

[9] EVIDENCE FOR ALLELIC HETEROGENEITY IN FAMILIAL EARLY-ONSET ALZHEIMERS-DISEASE [J].

VANDUIJN, CM ;

VAN BROECKHOVEN, C ;

HARDY, JA ;

GOATE, AM ;

ROSSOR, MN ;

VANDENBERGHE, A ;

MARTIN, JJ ;

HOFMAN, A ;

MULLAN, MJ .

BRITISH JOURNAL OF PSYCHIATRY, 1991, 158 :471-474

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