Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease

J Alzheimers Dis. 2015;44(4):1069-74. doi: 10.3233/JAD-142325.

Abstract

Amyloid-related imaging abnormalities (ARIA), thought to reflect immune responses to vascular amyloid, have been detected in several amyloid-modifying therapy trials for Alzheimer's disease (AD). We report a case of ARIA developing spontaneously during the course of Presenilin 1 (PSEN1)-associated familial AD (FAD), in an APOE4 homozygous patient. Severe cerebral amyloid angiopathy with associated inflammation was subsequently found at autopsy. Recognition that ARIA may arise spontaneously during FAD and of the potential risk factors for its development are important observations given the recent launch of amyloid-modifying therapy trials for FAD.

Keywords: APOE; Presenilin 1; cerebral amyloid angiopathy-related inflammation; familial Alzheimer's disease; magnetic resonance imaging.

Publication types

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

MeSH terms

  • Alzheimer Disease / complications*
  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology*
  • Apolipoprotein E4 / genetics
  • Cerebral Amyloid Angiopathy / complications*
  • Cognition Disorders / etiology
  • Female
  • Humans
  • Inflammation / complications*
  • Magnetic Resonance Imaging
  • Middle Aged
  • Presenilin-1 / metabolism*

Substances

  • Apolipoprotein E4
  • PSEN1 protein, human
  • Presenilin-1