title: Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics.
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 (PS1), 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.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN, 46202-5251.
authors.forename: K A
authors.initials: KA
authors.lastname: Quaid
authors.forename: J R
authors.initials: JR
authors.lastname: Murrell
authors.forename: A M
authors.initials: AM
authors.lastname: Hake
authors.forename: M R
authors.initials: MR
authors.lastname: Farlow
authors.forename: B
authors.initials: B
authors.lastname: Ghetti