Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease

Alzheimers Dement. 2017 Nov;13(11):1251-1260. doi: 10.1016/j.jalz.2017.03.007. Epub 2017 Apr 29.


Introduction: We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]).

Methods: Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68).

Results: CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P = .06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA.

Discussion: CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.

Keywords: Autosomal-dominant Alzheimer's disease; Cerebral amyloid angiopathy; Cerebrospinal fluid biomarkers; Down syndrome; Neuroimaging; Sporadic early-onset Alzheimer's disease.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / complications*
  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / genetics
  • Amyloid beta-Peptides / cerebrospinal fluid
  • Apolipoprotein E4 / genetics
  • Cerebral Amyloid Angiopathy / cerebrospinal fluid
  • Cerebral Amyloid Angiopathy / diagnostic imaging
  • Cerebral Amyloid Angiopathy / etiology*
  • Cerebral Amyloid Angiopathy / genetics
  • Down Syndrome / cerebrospinal fluid
  • Down Syndrome / complications*
  • Down Syndrome / diagnostic imaging
  • Down Syndrome / genetics
  • Female
  • Gene Frequency
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Peptide Fragments / cerebrospinal fluid


  • Amyloid beta-Peptides
  • Apolipoprotein E4
  • Peptide Fragments
  • amyloid beta-protein (1-40)
  • amyloid beta-protein (1-42)