Presymptomatic genetic testing with an APP mutation in Early-onset Alzheimer disease: A descriptive study of sibship dynamics

Kimberly A. Quaid, Jill R. Murrell, Ann M. Hake, Martin R. Farlow, Bernardino Ghetti

Research output: Contribution to journalReview article

7 Scopus citations

Abstract

Early-onset Alzheimer disease (AD) accounts for only 5% of all cases of Alzheimer disease. To date, mutations in three different genes, the Amyloid precursor protein (APP), Presenilin 1 (PSI), and Presenilin 2 (PS2), have been identified as causative in early-onset AD, making predictive testing possible. Predictive testing for early-onset Alzheimer disease is a relatively new phenomenon. This paper describes the process of identifying a new mutation in the APP gene associated with early- onset AD, notifying family members, and offering participation in research as well as predictive testing. The goal is to share the complexities of predictive testing in a sibship newly identified as being at risk for an adult-onset, incurable neurodegenerative disease.

Original languageEnglish (US)
Pages (from-to)327-341
Number of pages15
JournalJournal of Genetic Counseling
Volume9
Issue number4
DOIs
StatePublished - 2000

Keywords

  • Alzheimer disease
  • Genetic counseling
  • Predictive testing

ASJC Scopus subject areas

  • Genetics(clinical)

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