Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

Andrew J. Aschenbrenner, Bryan D. James, Eric McDade, Guoqiao Wang, Yen Ying Lim, Tammie L.S. Benzinger, Carlos Cruchaga, Alison Goate, Chengjie Xiong, Richard Perrin, Virginia Buckles, Ricardo Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Anne Fagan, Martin Farlow, Antoinette O’Connor, Bernardino Ghetti, Neill Graff‐Radford, Jill Goldman Susanne Gräber, Celeste M. Karch, Jae‐Hong Lee, Johannes Levin, Ralph N. Martins, Colin Masters, Hiroshi Mori, James Noble, Stephen Salloway, Peter Schofield, John C. Morris, Randall J. Bateman, Jason Hassenstab, Dominantly Inherited Alzheimer Network. Alzheimer’s and Dementia, Volume 16, Issue 1, 1 January 2020, Pages 219-228 Read More


Introduction: Although some members of families with autosomal dominant Alzheimer’s disease mutations learn their mutation status, most do not. How knowledge of mutation status affects clinical disease progression is unknown. This study quantifies the influence of mutation awareness on clinical symptoms, cognition, and biomarkers. Methods: Mutation carriers and non-carriers from the Dominantly Inherited Alzheimer Network (DIAN) were stratified based on knowledge of mutation status. Rates of change on standard clinical, cognitive, and neuroimaging outcomes were examined. Results: Mutation knowledge had no associations with cognitive decline, clinical progression, amyloid deposition, hippocampal volume, or depression in either carriers or non-carriers. Carriers who learned their status mid-study had slightly higher levels of depression and lower cognitive scores. Discussion: Knowledge of mutation status does not affect rates of change on any measured outcome. Learning of status mid-study may confer short-term changes in cognitive functioning, or changes in cognition may influence the determination of mutation status. © 2020 the Alzheimer’s Association

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Posted on March 18, 2020
Posted in: HPAN, Neurodegeneration, Neurogenetics & Transcriptomics, Publications Authors: , , , , ,