Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation

Background Early-onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable. Objectives The aim of this report is to describe a novel PSI mutation believed to be causal for a very early onset of AD. Methods This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre-clinical prodrome and clinical course of a patient with EOFAD. Results A previously undescribed G206V mutation in PSI was found in the proband. Conclusion The G206V mutation in PSI is probably causal of a case of EOFAD with significant premorbid features. Copyright (C) 2002 John Wiley Sons, Ltd.