Background: The identification of the premorbid manifestation of Alzheimer's disease (AD) usually is carried out retrospectively by eliciting information from caregivers. However, the study of subjects with familial Alzheimer's disease (FAD) not yet affected by AD allows the direct identification of premorbid characteristics of the disease.
Methods: This is a psychometric assessment of 3 mutated and 5 control subjects, belonging to an Italian family associated with a missense mutation linked to the presenilin 2 gene. The assessment included an evaluation of personality traits, cognitive and affective condition, social disabilities, experiential and familial context.
Results: According to the MMPI, the mutated subjects did not show consistent personality traits. Also other questionnaires (HADS, WAIS, BDQ) were negative for definite cognitive or behavioural patterns. ApoE genotypes did not differentiate mutated from control subjects.
Conclusions: Our results may be considered important for a better understanding of the pathogenesis of AD. The heuristic and practical importance of longitudinal prospective studies is emphasised.
Copyright 2000 S. Karger AG, Basel.