The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy.
The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE epsilon4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the epsilon2 allele frequency was significantly higher 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 needs further investigation.
Masullo
C
C
Istituto di Neurologia Policlinico Universitario A. Gemelli, 00168, Rome, Italy. cmasullo@getnet.it
Daniele
A
A
Fazio
V M
VM
Seripa
D
D
Gravina
C
C
Filippini
V
V
Grossi
D
D
Fragassi
N
N
Nichelli
P
P
Leone
M
M
Gainotti
G
G
D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D018888:Aphasia, Primary Progressive / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005787:Gene Frequency / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology
D001057:Apolipoproteins E