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

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. © 2020 the Alzheimer's Association

Keywords

amyloid beta protein, adult, Alzheimer disease, Article, attitude to illness, awareness, Clinical Dementia Rating, cognition, controlled study, depression, digit symbol substitution test, female, follow up, gene mutation, genetic risk, genetic screening, Geriatric Depression Scale, human, major clinical study, male, Mini Mental State Examination, neuroimaging, nuclear magnetic resonance imaging, onset age, positron emission tomography, priority journal, protein depletion, secondary prevention, standardized uptake value ratio, treatment outcome

Document Type

Journal Article

Date of Publication

1-1-2020

Publication Title

Alzheimer's and Dementia

Publisher

John Wiley and Sons Inc.

School

School of Medical and Health Sciences

RAS ID

31003

Funders

Japan Agency for Medical Research and Development,

AMED National Institute on Aging,

NIA Korea Health Industry Development Institute, KHIDI

Comments

Aschenbrenner, A. J., James, B. D., McDade, E., Wang, G., Lim, Y. Y., Benzinger, T. L., ... & Buckles, V. (2020). Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN). Alzheimer's & Dementia, 16(1), 219-228. https://doi.org/10.1002/alz.12010

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free_to_read

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Link to publisher version (DOI)

10.1002/alz.12010