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Article

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

American journal of medical genetics. Part A - 1 Mar 2014

La Piana Roberta, Uggetti Carla, Olivieri Ivana, Tonduti Davide, Balottin Umberto, Fazzi Elisa, Orcesi Simona

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of...

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PMID: 24376015
DOI: 10.1002/ajmg.a.36360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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