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 causa...

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Bibliographic Details
Published in:International journal of geriatric psychiatry 2002-07, Vol.17 (7), p.649-651
Main Authors: Goldman, Jill S., Reed, Bruce, Gearhart, Rosalie, Kramer, Joel H., Miller, Bruce L.
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Alzheimer Disease - genetics
Alzheimer's disease
Biological and medical sciences
Cholinergic system
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
EOFAD
Genetic Predisposition to Disease - genetics
Humans
Male
Medical sciences
Membrane Proteins - genetics
Mutation
Neurology
Neuropharmacology
Neurotransmitters. Neurotransmission. Receptors
Pedigree
Pharmacology. Drug treatments
premorbid symptoms
Presenilin-1
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Summary: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.
ISSN:0885-6230
1099-1166
DOI:10.1002/gps.657