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

Details

Serval ID
serval:BIB_5D270CC3D6AB
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
Journal
Brain
Author(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
Publication state
Published
Issued date
1993
Volume
116 ( Pt 2)
Pages
309-324
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
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.
Keywords
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
Create date
25/09/2011 15:34
Last modification date
20/08/2019 14:15
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