Objectives - The APOE gene polymorphism and the -491 A/T polymorphism in it
s regulatory region have been associated with an increased risk for develop
ing Alzheimer's disease. We examined these polymorphisms in multiple sclero
sis (MS) patients, to determine if a genetic predisposition may explain the
risk for developing cognitive decline in MS. Material and methods - Eighty
-nine relapsing-remitting and secondary progressive MS patients underwent t
o a full neuropsychological battery as well as to determination of APOE and
-491 A/T polymorphisms. Genetic analysis was also performed in 107 populat
ion controls. Results - The APOE polymorphism was not associated with the r
isk of cognitive impairment in MS patients. The AA genotype of the -491 A/T
polymorphism in the APOE regulatory region was more frequent in cognitivel
y impaired than in cognitively preserved MS subjects. Conclusion - The AA h
omozygous state of the -491 A/T polymorphism of the APOE regulatory region
is associated with cognitive impairment in patients with MS.