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Article

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

Journal of medical genetics - 1 Feb 2014

Livingston John H, Lin Jean-Pierre, Dale Russell C, Gill Deepak, Brogan Paul, Munnich Arnold, Kurian Manju A, Gonzalez-Martinez Victoria, De Goede Christian G E L, Falconer Alastair, Forte Gabriella, Jenkinson Emma M, Kasher Paul R, Szynkiewicz Marcin, Rice Gillian I, Crow Yanick J

Abstract excerpt

BACKGROUND: We recently observed mutations in ADAR1 to cause a phenotype of bilateral striatal necrosis (BSN) in a child with the type I interferonopathy Aicardi-Goutières syndrome (AGS). We therefore decided to screen patients with apparently non-syndromic BSN for ADAR1 mutations, and for an upr...

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PMID: 24262145
DOI: 10.1136/jmedgenet-2013-102038

Genes

BSN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24262145-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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