The Apolipoprotein E genotype in patients affected by syndromes with focalcortical atrophy

The role of the Apolipoprotein E (APOE) alleles in syndromes associated wit h focal cerebral atrophy (fronto-temporal dementia, primary progressive aph asia, corticobasal degeneration) is still controversial. We studied the APO E allele distribution in 39 patients with clinically diagnosed syndromes as sociated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset pr obable AD (LOAD). The APOE genotype was determined from a blood sample, usi ng polymerase chain reaction and restriction enzyme digestion. The APOE eps ilon4 allele frequency was significantly higher in the EOAD (21.0%) and LOA D (33.3%) groups, but nor in the FCA group (5.1%), as compared with control s. In our population, the epsilon2 allele frequency was significantly highe r in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE epsilon4 allele is not a risk factor for syndromes associated with FCA. The potential role of the epsilon2 allele in these syndromes nee ds further investigation. (C) 2001 Published by Elsevier Science Ireland Lt d.