Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene

J Clin Neurosci. 2020 Feb:72:482-484. doi: 10.1016/j.jocn.2019.11.009. Epub 2020 Jan 11.

Abstract

Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.

Keywords: APP; Alzheimer’s disease; Amyloid PET; Amyloid beta; Tau.

Publication types

  • Case Reports

MeSH terms

  • Alzheimer Disease
  • Amyloid beta-Peptides / metabolism
  • Amyloid beta-Protein Precursor / genetics*
  • Dementia / genetics*
  • Dementia / pathology*
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation*
  • Neuroimaging
  • Siblings
  • tau Proteins / metabolism

Substances

  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • tau Proteins