ALZHEIMER-DISEASE IN SARDINIAN POPULATION - A NEUROPSYCHOLOGICAL AND GENETIC-STUDY

We studied the apo-E polymorphism in a sample of 46 AD patients (13 ma les, 33 females, age at testing 45-83 years) from Sardinia, along with 582 healthy controls of the same origin. The diagnosis of possible or probable AD was made according to the NINCDS-ADRDA criteria: the susp icion of dementia was confirmed by history, neurological data as well as by psychometric testing. All patients had an altered Hachinski isch emic scale (HIS) score less than or equal to 4. Computed tomography (C T) scan, magnetic resonance imaging (MRI), and single photon emission CT [SPECT] study with 99m-Technetium-complex of demethylated propylene -amine-oxime (99m-Tc-HM-PAO) were performed in all patients. A singula r feature of the neuropsychological profiles was a pattern of language deficit: our AD patients showed at the beginning of the illness a per ipheral dysgraphia. a writing impairment which, in terms of the model of spelling put forward by A.V. Ellis, was considered as an inability to accede to the appropriate allograph for a grapheme. The apo-E genot ypes were detected by using a polymerase chain reaction (PCR) method. A twofold increase of apo-E epsilon 4 allele frequency in AD patients vs controls (p = 0.02) and the absence of epsilon 2-containing genotyp es were found. None of the patients was epsilon 4 homozygous. These pr eliminary results suggest that in Sardinian population the epsilon 4 a llele is associated to AD whereas the epsilon 2 allele may have a prot ective role in the pathogenesis of the disease.