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

Aschenbrenner, AJ; James, BD; McDade, E; Wang, G; Lim, YY; Benzinger, TLS; Cruchaga, C; ... Hassenstab, J; + view all (2020) Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN). Alzheimer's & Dementia , 16 (1) pp. 219-228. 10.1002/alz.12010. Green open access

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Abstract

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.

Type: Article
Title: Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/alz.12010
Publisher version: https://doi.org/10.1002/alz.12010
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, APOE GENOTYPE, DISEASE
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
URI: https://discovery.ucl.ac.uk/id/eprint/10094343
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