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Titre du document / Document title

No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies

Auteur(s) / Author(s)

SINGLETON A. B. (1 2) ; LAMB H. (1 2) ; LEAKE A. (1 2) ; MCKEITH I. G. (1 3) ; INCE P. G. (1 4) ; PERRY R. H. (1 4) ; MORRIS C. M. (1 2) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Medical Research Council Neurochemical Pathology Unit, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, ROYAUME-UNI
(2) Institute for the Health of the Elderly, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, ROYAUME-UNI
(3) Department of Old Age Psychiatry, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, ROYAUME-UNI
(4) Department of Neuropathology, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, ROYAUME-UNI

Résumé / Abstract

THE discovery of mis-sense mutations linking the presenilin-1 (PS-1) gene on chromosome 14 to Alzheimer's disease (AD) has lead to a thorough investigation of this locus. The PS-1 gene contains a polymorphism creating two alleles. The most common allele, allele 1, has been linked with late-onset AD. Given the clinical and pathological overlaps between AD and dementia with Lewy bodies we genotyped 46 pathologically confirmed cases of dementia with Lewy bodies for the PS-1 polymorphism and compared the allelic frequencies with 87 age-matched control cases and 103 age-matched AD cases. No association between dementia with Lewy bodies and PS-1 allele 1 was found either in the group as a whole, or in the group stratified according to dosage of the ε4 allele of the apolipoprotein E gene. We suggest that either the presenilin polymorphism has no effect on dementia with Lewy bodies or that any linkage is precluded by another, more influential, locus.

Revue / Journal Title

Neuroreport    ISSN  0959-4965 

Source / Source

1997, vol. 8, no16, pp. 3637-3639 (20 ref.)

Langue / Language

Anglais

Editeur / Publisher

Lippincott Williams & Wilkins, Hagerstown, MD, ETATS-UNIS  (1990) (Revue)

Mots-clés anglais / English Keywords

Etiology

;

Gene product

;

Gene expression

;

Polymorphism

;

Apolipoprotein E

;

Alzheimer disease

;

Lewy body

;

Human

;

Nervous system diseases

;

Central nervous system disease

;

Cerebral disorder

;

Degenerative disease

;

Mots-clés français / French Keywords

Etiologie

;

Produit gène

;

Expression génique

;

Polymorphisme

;

Apolipoprotéine E

;

Démence Alzheimer

;

Corps Lewy

;

Homme

;

Présiniline 1

;

Système nerveux pathologie

;

Système nerveux central pathologie

;

Encéphale pathologie

;

Maladie dégénérative

;

Mots-clés espagnols / Spanish Keywords

Etiología

;

Producto gene

;

Expresión genética

;

Polimorfismo

;

Apolipoproteína E

;

Demencia Alzheimer

;

Cuerpo Lewy

;

Hombre

;

Sistema nervioso patología

;

Sistema nervosio central patología

;

Encéfalo patología

;

Enfermedad degenerativa

;

Localisation / Location

INIST-CNRS, Cote INIST : 22534, 35400006960570.0460

Nº notice refdoc (ud4) : 2858120



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