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
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.