Cognitive decline in patients with familial Alzheimer's disease associatedwith e280a presenilin-1 mutation: A longitudinal study

Few longitudinal studies have been carried out to investigate the cognitive decline in early onset of familial Alzheimer's disease (FAD). In this stud y 12 patients with FAD (M age = 49.61 years, SD = 4.99), 10 patients with s poradic Alzheimer's disease (SAD) (M age = 71.40, SD =10.00), and 15 matche d normal controls (M age = 45.01, SD = 7.24) were selected. A comprehensive neuropsychological battery was administered three times over a period of 1 8 months. Individuals designated as FAD met the criteria for dementia and w ere positive for the E280A presenilin 1 mutation. Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mut ation. Normal control participants were the FAD patients' relatives, who we re negative for the mutation. Two groups of neuropsychological instruments were administered: (1) The Consortium to Establish a Registry for Alzheimer 's Disease (CERAD) neuropsychological test battery, and (2) additional neur opsychological tests of abstraction and constructional abilities. Patients with FAD were significantly impaired on all measures at the first examinati on except for reading of words. While the performance of the normal control s remained unchanged over the 18 months for most neuropsychological tests, the patients with FAD displayed a decline in verbal memory, language, const ructional and abstraction tests. The greatest decline was observed on the M ini-Mental State Exam scores. Patients with SAD demonstrated a similar patt ern of cognitive decline, but the decline was faster in FAD than in SAD par ticipants.