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Int J Geriatr Psychiatry. 2002 Jul;17(7):649-51.

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

Author information

1
UCSF Memory and Aging Center, San Francisco, CA 94143, USA. jgoldman@memory.ucsf.edu

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.

PMID:
12112163
DOI:
10.1002/gps.657
[Indexed for MEDLINE]
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