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

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

Author information

1
Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain; Global Brain Health Institute, Trinity College Dublin, College Green, Dublin, Ireland.
2
Global Brain Health Institute, Trinity College Dublin, College Green, Dublin, Ireland; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
3
Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain.
4
Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.
5
Department of Radiology, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain.
6
Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
7
Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
8
Adult Down Syndrome Clinic, Department of Neuroscience, University of California, San Diego, CA, USA; Alzheimer's Therapeutic Research Institute, University of Southern California, San Diego, CA, USA.
9
Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain; BarcelonaBeta Brain Research Center, Fundació Pasqual Maragall, Universitat Pompeu Fabra, Barcelona, Spain.
10
Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Faculty of Health and Life Sciences, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
11
Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain. Electronic address: jfortea@santpau.cat.

Abstract

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

PMID:
28463681
PMCID:
PMC5660938
DOI:
10.1016/j.jalz.2017.03.007
[Indexed for MEDLINE]
Free PMC Article

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