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

Lookup NU author(s): Dr Vankateswara Ramesh, Dr Mario Abinun, Patrick Mitchell


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Aim To describe a spectrum of intracerebral large artery disease in Aicardi-Goutieres syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. Method We used clinical and radiological description and molecular analysis. Results 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. Interpretation 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.

Publication metadata

Author(s): Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ

Publication type: Article

Publication status: Published

Journal: Developmental Medicine and Child Neurology

Year: 2010

Volume: 52

Issue: 8

Pages: 725-732

Print publication date: 08/07/2010

ISSN (print): 0012-1622

ISSN (electronic): 1469-8749

Publisher: Mac Keith Press


DOI: 10.1111/j.1469-8749.2010.03727.x


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