학술논문
Clinical considerations in early-onset cerebral amyloid angiopathy.
Document Type
Academic Journal
Author
Banerjee G; MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, W1W 7FF, UK.; Collinge J; MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, W1W 7FF, UK.; Fox NC; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; UK Dementia Research Institute at UCL, London, WC1E 6BT, UK.; Lashley T; The Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Disorders, UCL Queen Square Institute of Neurology, London, W1 1PJ, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Mead S; MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, W1W 7FF, UK.; Schott JM; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; UK Dementia Research Institute at UCL, London, WC1E 6BT, UK.; Werring DJ; Stroke Research Centre, Department of Brain Repair and Rehabilitation, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Ryan NS; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; UK Dementia Research Institute at UCL, London, WC1E 6BT, UK.
Source
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Subject
Language
English
Abstract
Cerebral amyloid angiopathy (CAA) is an important cerebral small vessel disease associated with brain haemorrhage and cognitive change. The commonest form, sporadic amyloid-β CAA, usually affects people in mid- to later life. However, early-onset forms, though uncommon, are increasingly recognized and may result from genetic or iatrogenic causes that warrant specific and focused investigation and management. In this review, we firstly describe the causes of early-onset CAA, including monogenic causes of amyloid-β CAA (APP missense mutations and copy number variants; mutations of PSEN1 and PSEN2) and non-amyloid-β CAA (associated with ITM2B, CST3, GSN, PRNP and TTR mutations), and other unusual sporadic and acquired causes including the newly-recognized iatrogenic subtype. We then provide a structured approach for investigating early-onset CAA, and highlight important management considerations. Improving awareness of these unusual forms of CAA amongst healthcare professionals is essential for facilitating their prompt diagnosis, and an understanding of their underlying pathophysiology may have implications for more common, late-onset, forms of the disease.
(© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)
(© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)