A case of cerebral amyloid angiopathy with a novel variant in the amyloid-β region of APP

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Abstract
Here we report a case of a 77-year-old Japanese woman who carries the heterozygous APP p.Tyr681His variant. This variant lies within the amyloid-β region, precisely at the β′-site of the β-secretase cleavage. She presented with preserved cognition despite a prior left frontal hemorrhage at age 70, MRI findings suggestive of cerebral amyloid angiopathy, and a family history of intracerebral hemorrhage, later developing recurrent hemorrhage at age 78.
Funding Information
  • Chukyo Longevity Medical Research and Promotion Foundation
  • Hori Sciences and Arts Foundation
  • Japan Society for the Promotion of Science (JP23K21306)
  • Japan Society for the Promotion of Science (JP24K10073)
  • Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology (23-7)
  • Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology (24-11)
  • Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology (24-15)
  • Japan Foundation for Aging and Health
  • AMED (JP22dk0207060)
  • AMED (JP25dk0207066h0003)
  • AMED (JP26dk0207081s1301)
  • Ministry of Health, Labour and Welfare Research on Dementia Program (23GB2001)

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