Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes

Neuropathol Appl Neurobiol. 2021 Jun;47(4):579-582. doi: 10.1111/nan.12670. Epub 2020 Nov 5.

Abstract

We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, also carrying the APOEch variant, developed AD at the age of 66 years old. Our data suggest a possible deleterious effect of this variant, which contrast with the protective role that has been previously shown in a subject homozygous for the APOEch with he Paisa PSEN1 mutation.

Keywords: APOE; Alzheimer's disease; Christchurch; early-onset Alzheimer's disease; genetics; mutation.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology*
  • Apolipoproteins E / genetics*
  • Brain / pathology
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Pedigree

Substances

  • ApoE protein, human
  • Apolipoproteins E