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 PS1 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 PS1 was found in the proband.
Conclusion: The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features.
Copyright 2002 John Wiley & Sons, Ltd.