Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).

Détails

ID Serval
serval:BIB_5D270CC3D6AB
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
Périodique
Brain
Auteur⸱e⸱s
Kennedy A.M., Newman S., McCaddon A., Ball J., Roques P., Mullan M., Hardy J., Chartier-Harlin M.C., Frackowiak R.S., Warrington E.K.
ISSN
0006-8950 (Print)
ISSN-L
0006-8950
Statut éditorial
Publié
Date de publication
1993
Volume
116 ( Pt 2)
Pages
309-324
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer's disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. The mean age at onset of symptoms was 52 years with a range from 40 years to 67 years. The median duration of the disease was 11 years, with a range of 7-16 years. All individuals fulfilled the National Institute for Neurological and Communicative Disorders and Stroke criteria for probable Alzheimer's disease. A homogeneous clinical and neuropsychological pattern was evident within the family. Myoclonic jerks, seizures, depression and a lack of insight were common features. Positron emission tomography demonstrated biparietal bitemporal hypometabolism in the one affected individual who was studied. The diagnosis was confirmed histopathologically in one individual.
Mots-clé
Adult, Aged, Alzheimer Disease/genetics, Amino Acid Sequence, Amyloid beta-Protein Precursor/genetics, Female, Glycine/genetics, Humans, Male, Middle Aged, Mutation, Pedigree, Valine/genetics
Pubmed
Web of science
Création de la notice
25/09/2011 15:34
Dernière modification de la notice
20/08/2019 14:15
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