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 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.