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[The search for a mutation in the gene coding the beta-amyloid protein precursor gene in patients with Alzheimer-type dementias].

Authors :
Golimbet VE
Ovchinnikov IV
Voskresenskaia NI
Iurov IuB
Rogaev EI
Doronina OA
Maksunova IV
Source :
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 1996; Vol. 96 (1), pp. 75-8.
Publication Year :
1996

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 amyloid deposits of Alzheimer disease was recently shown to be segregated with this disease in some kindreds. The following study aimed to determine the frequency of the codon 717 mutation in familial and "sporadic" cases of dementia of the Alzheimer type has been performed in Russian patients. 62 patients with senile dementia and the Alzheimer disease with early and late onset and 43 normal controls were tested for this mutation. None of them were positive. Thus this mutation is considered to be rare in studied population though in some cases it may be the cause of the disease.

Details

Language :
Russian
ISSN :
1997-7298
Volume :
96
Issue :
1
Database :
MEDLINE
Journal :
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Publication Type :
Academic Journal
Accession number :
8677726