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

✍ Scribed by Jill S. Goldman; Bruce Reed; Rosalie Gearhart; Joel H. Kramer; Bruce L. Miller

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 47 KB
• Volume: 17
• Category: Article
• ISSN: 0885-6230
• DOI: 10.1002/gps.657

✦ Synopsis

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.