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Article type: Short Communication
Authors: Ryan, Natalie S.a; * | Lashley, Tammarynb | Revesz, Tamasb | Dantu, Kiranc | Fox, Nick C.a | Morris, Huw R.d
Affiliations: [a] Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK | [b] Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK | [c] Department of Old Age Psychiatry, Ysbyty Ystrad Fawr Hospital, Hengoed, UK | [d] Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
Correspondence: [*] Correspondence to: Dr. Natalie Ryan, Dementia Research Centre, Box 16 – National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Tel.: +44 0203 4483856; Fax: +44 0203 4483104; E-mail: natalie.ryan@ucl.ac.uk.
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, familial Alzheimer's disease, cerebral amyloid angiopathy-related inflammation, magnetic resonance imaging, Presenilin 1
DOI: 10.3233/JAD-142325
Journal: Journal of Alzheimer's Disease, vol. 44, no. 4, pp. 1069-1074, 2015
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