Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

Developmental Medicine and Child Neurology
Venkateswaran RameshY J Crow

Abstract

To describe a spectrum of intracerebral large artery disease in Aicardi-Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. We used clinical and radiological description and molecular analysis. Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin. Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1.

References

Dec 1, 1974·Archives of Disease in Childhood·H J Goldenberg
Aug 12, 1999·Acta Neuropathologica·P G BarthI van Gelderen
Aug 25, 2004·American Journal of Medical Genetics. Part a·Yanick J CrowR M Winter
Apr 22, 2008·Developmental Medicine and Child Neurology·Yanick J Crow, John H Livingston
Apr 22, 2008·Journal of Cutaneous Pathology·Athanassios KolivrasJosette André
Jun 28, 2008·Cell Cycle·David KavanaghJohn P Atkinson
Aug 30, 2008·Developmental Medicine and Child Neurology·Stefano D'ArrigoChiara Pantaleoni
Mar 20, 2009·The New England Journal of Medicine·R Michael Scott, Edward R Smith
Apr 2, 2010·American Journal of Medical Genetics. Part a·Russell C DaleYanick J Crow

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Citations

May 29, 2012·Pediatric Radiology·L RosslerJ Schaper
Mar 16, 2011·Proceedings of the National Academy of Sciences of the United States of America·Baozhong XinHeng Wang
Jun 3, 2011·Proceedings of the National Academy of Sciences of the United States of America·Marcel du MoulinFrank Rutsch
Oct 4, 2014·Pediatric Rheumatology Online Journal·Alexandre BelotYanick J Crow
Jun 8, 2014·Annals of the Rheumatic Diseases·Eloy CuadradoTaco W Kuijpers
Jan 5, 2011·American Journal of Medical Genetics. Part a·Jane C RavenscroftYanick J Crow
Dec 2, 2011·Annals of the New York Academy of Sciences·Yanick J Crow
Jan 1, 2014·Developmental Medicine and Child Neurology·John H LivingstonYanick J Crow
Oct 28, 2015·BioMed Research International·Wei LiHeng Wang
Aug 26, 2015·Nature Reviews. Neurology·Sarah McGlassonDavid Hunt
Jun 9, 2015·Nature Reviews. Immunology·Yanick J Crow, Nicolas Manel
Mar 4, 2015·Journal of Clinical Immunology·Gillian I RiceYanick J Crow
Mar 28, 2018·Autoimmunity·Christopher H Mauney, Thomas Hollis
Aug 31, 2017·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Ashraf KharratSunita Venkateswaran
Apr 13, 2018·The Journal of Clinical Investigation·Gina A Montealegre SanchezRaphaela Goldbach-Mansky
Apr 5, 2013·Arthritis Care & Research·Reut GurionAngela B Robinson
Jun 9, 2019·Developmental Medicine and Child Neurology·Yanick J CrowJohn H Livingston
Nov 23, 2018·International Journal of Molecular Sciences·Sciacca Francesca LuisaBersano Anna
Dec 14, 2011·Clinical Genetics·C Chahwan, R Chahwan
Apr 24, 2013·Clinical and Experimental Immunology·Y J CrowG I Rice
Dec 10, 2013·Oncology Reports·Yunpeng ShiPing Zhang
Mar 16, 2017·Clinical Rheumatology·Michael Henrickson, Heng Wang
May 6, 2017·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Insa BuersFrank Rutsch
Dec 12, 2018·The Journal of Immunology : Official Journal of the American Association of Immunologists·Justin Taft, Dusan Bogunovic
Jan 10, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Elisa FranzolinChiara Rampazzo
Jun 12, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Chang-Chun WuWang-Tso Lee
Jul 8, 2020·Translational Stroke Research·Sarah E WithersPaul R Kasher
Mar 15, 2015·The Journal of Immunology : Official Journal of the American Association of Immunologists·Eloy CuadradoElly M Hol
Jun 18, 2020·Current Rheumatology Reports·Isabelle Melki, Marie-Louise Frémond
Feb 13, 2015·The Journal of Immunology : Official Journal of the American Association of Immunologists·Paul R KasherYanick J Crow
May 6, 2019·Bioengineering·Kimia Kamal, Ben Waldau
Aug 7, 2020·AJR. American Journal of Roentgenology·David DoigKshitij Mankad
Mar 9, 2021·A&A Practice·Anna K Swenson Schalkwyk, Rita Agarwal

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