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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies

Benjamin, P; Sudhakar, S; D'Arco, F; Lobel, U; Carney, O; Roux, C-J; Boddaert, N; ... Mankad, K; + view all (2022) Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies. American Journal of Neuroradiology , 43 (1) pp. 2-10. 10.3174/ajnr.A7362. Green open access

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Abstract

The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent inflammatory phenotypes. With emerging therapeutic options, recognition of these disorders is increasingly important, and neuroimaging plays a vital role. In this article, we discuss the wide spectrum of neuroradiologic features associated with monogenic interferonopathies by reviewing the literature and illustrate these with cases from our institutions. These cases include intracerebral calcifications, white matter T2 hyperintensities, deep WM cysts, cerebral atrophy, large cerebral artery disease, bilateral striatal necrosis, and masslike lesions. A better understanding of the breadth of the neuroimaging phenotypes in conjunction with clinical and laboratory findings will enable earlier diagnosis and direct therapeutic strategies.

Type: Article
Title: Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.3174/ajnr.A7362
Publisher version: https://doi.org/10.3174/ajnr.A7362
Language: English
Additional information: © 2022 by American Journal of Neuroradiology Indicates open access to non-subscribers at www.ajnr.org
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neuroimaging, Radiology, Nuclear Medicine & Medical Imaging, Neurosciences & Neurology, AICARDI-GOUTIERES SYNDROME, BILATERAL STRIATAL NECROSIS, I INTERFERON, IMAGING FINDINGS, MUTATIONS, ONSET, DISEASE, SAMHD1, LEUKOENCEPHALOPATHY, CALCIFICATION
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10147448
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