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

Jill S. Goldman, Bruce R Reed, Rosalie Gearhart, Joel H. Kramer, Bruce L. Miller

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)649-651
Number of pages3
JournalInternational Journal of Geriatric Psychiatry
Volume17
Issue number7
DOIs
StatePublished - 2002

Fingerprint

Presenilin-1
Alzheimer Disease
Mutation
Dominant Genes
Genetic Testing
Age of Onset
Medical Records
Interviews

Keywords

  • Alzheimer's disease
  • EOFAD
  • Premorbid symptoms
  • Presenilin 1

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Psychiatry and Mental health

Cite this

Very early-onset familial Alzheimer's disease : A novel presenilin 1 mutation. / Goldman, Jill S.; Reed, Bruce R; Gearhart, Rosalie; Kramer, Joel H.; Miller, Bruce L.

In: International Journal of Geriatric Psychiatry, Vol. 17, No. 7, 2002, p. 649-651.

Research output: Contribution to journalArticle

Goldman, Jill S. ; Reed, Bruce R ; Gearhart, Rosalie ; Kramer, Joel H. ; Miller, Bruce L. / Very early-onset familial Alzheimer's disease : A novel presenilin 1 mutation. In: International Journal of Geriatric Psychiatry. 2002 ; Vol. 17, No. 7. pp. 649-651.
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