ISSN:
1573-3599
Keywords:
Alzheimer disease
;
predictive testing
;
genetic counseling
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
,
Psychology
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1023/A:1009406229745
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