Elisabeth Hendrickx Van de Craen, EAN 2022: Rare ABCA7 mutations and Alzheimer’s disease
ABCA7 is a major risk gene for Alzheimer’s disease (AD), and rare premature termination codon and missense mutations are enriched in AD patients. Elisabeth Hendrickx Van de Craen (VIB-UAntwerpen, University of Antwerp, Antwerp, Belgium) spoke with touchNEUROLOGY about the findings of her study with patients presenting with cerebral amyloid angiopathy and Alzheimer’s disease, and how this emerging evidence be used in practice to optimize care for people with Alzheimer’s disease.
Questions:
- Rare loss-of-function variants in ABCA7 were originally described in a Belgian person with Alzheimer’s disease; how are these mutations associated with progression? (00:19)
- What are your findings in patients presenting with cerebral amyloid angiopathy and Alzheimer’s disease? (02:48)
- How can this emerging evidence be used in practice to optimize care for people with Alzheimer’s disease? (05:54)
The abstract titled ‘Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease’ (Abstract #OPR-029) took place at the European Academy of Neurology Congress 2022, 25–28 June 2022.
Disclosure: Elisabeth Hendrickx Van de Craen has nothing to disclose in relation to this video interview.
Support: Interview and filming supported by Touch Medical Media. Interview conducted by Lisa Glass.
Filmed as a highlight of EAN 2022.
