Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2008 Aug;50(8):631-4.
doi: 10.1111/j.1469-8749.2008.03033.x.

Aicardi-Goutières syndrome: description of a late onset case

Stefano D'Arrigo  1 , Daria Riva, Sara Bulgheroni, Luisa Chiapparini, Pierre Lebon, Gillian Rice, Yanick J Crow, Chiara Pantaleoni
Affiliations
Free article
Case Reports

Aicardi-Goutières syndrome: description of a late onset case

Stefano D'Arrigo et al. Dev Med Child Neurol. 2008 Aug.
Free article

Abstract

Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy usually inherited as an autosomal recessive trait. The syndrome can be caused by mutations in the AGS1 gene encoding the exonuclease TREX1, or in any of the AGS2, AGS3, or AGS4 genes that encode the three subunits of the human ribonuclease H2 (RNaseH2) complex. Typically, AGS has an early onset, usually manifesting by the age of 4 months. We describe a female infant in whom the onset of the neurological symptoms of AGS occurred after the age of 12 months, and her younger brother who was identified to be affected by AGS at the age of 8 months on the basis of the presence of non-neurological features alone. This paper is important in providing a detailed description of the late-onset presentation of AGS in patients with proven pathogenic mutations and highlights the occurrence of both chilblains and abnormal neuroimaging many months before the onset of neurological features. Our paper also considers the possible value of immunomodulatory therapy in AGS.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

-