Journal article

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 LS 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 Show all

ALZHEIMERS & DEMENTIA | WILEY | Published : 2020

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, hippocamp..

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