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Presymptomatic Genetic Testing with an APP Mutation in Early‐Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics
Author(s) -
Quaid Kimberly A.,
Murrell Jill R.,
Hake Ann M.,
Farlow Martin R.,
Ghetti Bernardino
Publication year - 2000
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1023/a:1009406229745
Subject(s) - presenilin , disease , genetic testing , predictive testing , medicine , amyloid precursor protein , mutation , alzheimer's disease , age of onset , genetics , gene , biology , pathology
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.