文摘
Alzheimer's disease is a chronic neurodegenerative disease that causes progressive dementia. Several studies have been carried out to date in order to elucidate the etiology and pathogenesis of this complex illness. Genetic and environmental factors has been considered. Recent molecular studies have identified genetic loci on chromosome 21, 19 and 14 and five different missense mutations of the gene encoding for the amyloid precursor protein (APP) in at least 12 kindreds of early onset familial AD (EOFAD) (see for review, Kennedy et al. 1994). More recently an association of the E4 allele of apolipoprotein E (ApoE) both with late onset familial AD (Corder et al. 1993) and sporadic cases had been reported (Poirier et al., 1993; Saunders et al., 1993). Recently Sorbi and coll. (in press) described a new FAD kindred in which the disease cosegregates with the APP717Val → IIe mutation in which all of the three most common ApoE alleles are represented and they appear to influence the age at onset of the disease.