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

Authors


Abstract

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.

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