title: Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease.
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.
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Natalie S
authors.initials: NS
authors.lastname: Ryan
authors.affiliation: Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Tammaryn
authors.initials: T
authors.lastname: Lashley
authors.affiliation: Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
authors.affiliation: Department of Old Age Psychiatry, Ysbyty Ystrad Fawr Hospital, Hengoed, UK.
authors.forename: Kiran
authors.initials: K
authors.lastname: Dantu
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Nick C
authors.initials: NC
authors.lastname: Fox
authors.affiliation: Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Huw R
authors.initials: HR
authors.lastname: Morris
mesh_terms: D000544:Alzheimer Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D053327:Apolipoprotein E4 / Q000235:genetics; D016657:Cerebral Amyloid Angiopathy / Q000150:complications*; D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D006801:Humans; D007249:Inflammation / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D053764:Presenilin-1 / Q000378:metabolism*
chemical_list: D053327:Apolipoprotein E4; C508853:PSEN1 protein, human; D053764:Presenilin-1
keywords: APOE; Presenilin 1; cerebral amyloid angiopathy-related inflammation; familial Alzheimer's disease; magnetic resonance imaging