{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T04:33:34Z","timestamp":1720499614446},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,12,22]],"date-time":"2002-12-22T00:00:00Z","timestamp":1040515200000},"content-version":"vor","delay-in-days":873,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2000,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Early\u2010onset 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\u2010onset AD, making predictive testing possible. Predictive testing for early\u2010onset Alzheimer disease is a relatively new phenomenon. This paper describes the process of identifying a new mutation in the APP gene associated with early\u2010onset 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\u2010onset, incurable neurodegenerative disease.<\/jats:p>","DOI":"10.1023\/a:1009406229745","type":"journal-article","created":{"date-parts":[[2002,12,22]],"date-time":"2002-12-22T19:27:48Z","timestamp":1040585268000},"page":"327-341","source":"Crossref","is-referenced-by-count":5,"title":["Presymptomatic Genetic Testing with an APP Mutation in Early\u2010Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics"],"prefix":"10.1002","volume":"9","author":[{"given":"Kimberly A.","family":"Quaid","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine 975 West Walnut Street Indianapolis IN 46202\u20105251"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill R.","family":"Murrell","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology Indiana University School of Medicine Indianapolis IN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann M.","family":"Hake","sequence":"additional","affiliation":[{"name":"Department of Neurology Indiana University School of Medicine Indianapolis IN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin R.","family":"Farlow","sequence":"additional","affiliation":[{"name":"Department of Neurology Indiana University School of Medicine Indianapolis IN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardino","family":"Ghetti","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology Indiana University School of Medicine Indianapolis IN"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.3.294"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1086\/JCE199102402","article-title":"The ethical justification for minimal paternalism in the use of the predictive test for Huntington's disease","volume":"2","author":"DeGrazia D","year":"1991","journal-title":"J Clin Ethics"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_1_5_1","unstructured":"HardyJ(2000)APP Mutations Directory Alzheimer Research ForumOnline Resources atwww.alzforum.org January 26 2000."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-218"},{"key":"e_1_2_1_7_1","volume-title":"Guidelines for Predictive Testing for Huntington Disease.","author":"Huntington Disease Society of 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