Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation

It was hypothesized that subjective memory complaints represent the earlies t sign of dementia in carriers of the presenilin-1 (PS1) mutation. A total of 122 subjects (44 males, 78 females) were included in this study. Forty o f them were positive for the mutation in the PSI gene (mutation positive, M P) whereas 82 showed negative results (mutation negative, MN). Subjects wer e active, functionally normal, even though some of them complained of memor y difficulties. Two groups of neuropsychological instruments were administe red: (a) The Consortium to Establish a Registry for Alzheimer's Disease (CE RAD) neuropsychological test battery (Morris et al, 1989), and lb) some add itional neuropsychological tests (Raven Test, Wechsler Memory Scale, Rey-Os terrieth Complex Figure, Boston Naming Test, Naming of Categories Boston Di agnostic Aphasia Examination, Memory of Three Phrases, Knopman Test, Digit Symbol, and Visual "A " Cancellation Test). Performance in both groups was quite similar. In a secondary analysis, the MP group was subdivided into tw o subgroups: without and with memory complaints. When comparing both subgro ups, a better performance in the first subgroup was found throughout the di fferent subtests. Statistically significant differences were observed in th e following test scores: Mini-Mental State Examination, Naming Test (Low Fr equency), Memory of Words Test. Recall of Drawings, Wechsler Memory Scale ( Logical Memory, Associative Learning, and Total Score), Rey-Osterrieth Comp lex Figure (Immediate Recall Condition), Boston Diagnostic Aphasia Examinat ion (Complex Ideational Material Subtest) Memory of Three phrases Test, Ser ial Verbal Learning (maximum score and Delayed Recall), Knopman Test (First Trial, Second Trial, and Recall after 5 Minutes), Digit Symbol, and Visual "A "Cancellation Test (Additions). Results supported the hypothesis that m emory complaints represent the earliest symptom of familial Alzheimer's dis ease. In addition to the memory difficulties, other minor cognitive impairm ents were also found, particularly, mild anomia, concentration difficulties and defects in the understanding of complex verbal material. (C) 2000 Nati onal Academy of Neuropsychology Published by Elsevier Science Ltd.