SEARCH FOR A MUTATION IN THE BETA-AMYLOID PRECURSOR PROTEIN GENE IN DEMENTIA OF THE ALZHEIMER-TYPE

Citation
Ve. Golimbet et al., SEARCH FOR A MUTATION IN THE BETA-AMYLOID PRECURSOR PROTEIN GENE IN DEMENTIA OF THE ALZHEIMER-TYPE, Zurnal nevropatologii i psihiatrii im. S.S. Korsakova, 96(1), 1996, pp. 75-78
Citations number
18
Categorie Soggetti
Psychiatry,Pathology,"Clinical Neurology
ISSN journal
00444588
Volume
96
Issue
1
Year of publication
1996
Pages
75 - 78
Database
ISI
SICI code
0044-4588(1996)96:1<75:SFAMIT>2.0.ZU;2-B
Abstract
Missence mutation in codon 717 of the amyloid precursor protein (APP) gene that codes for the precursor to the beta-protein found in the amy loid deposits of Alzheimer disease was recently shown to be segregated with this disease in some kindreds. The following study aimed to dete rmine the frequency of the codon 717 mutation in familial and ''sporad ic'' cases of dementia of the Alzheimer type has been performed in Rus sian patients. 62 patients with senile dementia and the Alzheimer dise ase with early and late onset and 43 normal controls were tested for t his mutation. None of them were positive. Thus this mutation is consid ered to be rare in studied population though in some cases it may be t he cause of the disease.