ABCA7 is a major risk gene for Alzheimer’s disease (AD), and rare premature termination codon and missense mutations are enriched in people with AD. Elisabeth Hendrickx Van de Craen (VIB-UAntwerpen, University of Antwerp, Antwerp, Belgium) spoke with touchNEUROLOGY about the findings of her study with participants presenting with cerebral amyloid angiopathy (CAA) and AD, and how this emerging evidence could be used in practice to optimise care for people with AD. They discussed rare loss-of-function variants in ABCA7, originally described in a Belgian person with AD and whether these mutations are associated with disease progression; the findings in people presenting with CAA and AD; and how this emerging evidence could be used in practice to optimise care for people with AD. The abstract titled "Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease" was presented at the European Academy of Neurology Congress 2022, which took place from 25 to 28 June 2022. You can watch the full interview, here: https://touchneurology.com/alzheimers-disease-dementia/conference-hub/elisabeth-hendrickx-van-de-craen-ean-2022-rare-abca7-mutations-and-alzheimers-disease/
