skip banner - Return to original view
site viewing options
 
Parents|Medical Information|Professionals|In your area|Campaigns

Aicardi-Goutières syndrome

Background

Aicardi-Goutières syndrome: AGS; Pseudo-TORCH syndrome; microcephaly-intracranial calcification syndrome (MICS); Cree encephalitis

In 1984, Jean Aicardi and Françoise Goutières, two French paediatric neurologists, described an early onset genetic brain disorder mimicking the features of viral infections affecting a child in the womb. Clinical indicators of the disease include:

  • Calcification (the accumulation of calcium) in the brain, seen on a CT scan;
  • Changes in the white matter (whitish nerve tissue) of the brain and spinal cord brain best seen on a MRI scan;
  • Raised levels of white cells, interferon-alpha and pterins (proteins produced by the body to fight viral infection) in the cerebrospinal fluid following a lumbar puncture;
  • Distinctive 'chilblain-like' lesions on the hands and feet which are usually worse in the cold.

Four different genes (see table) have been identified that, when damaged by a mutation, can cause AGS. Only one gene is involved in any one family.

Gene Chromosome Position Other names Percentage of families with mutations
AGS1 3 TREX1/DNaseIII 35%
AGS2 13 RNASEH2B/FLJ11712 45%
AGS3 11 RNASEH2C/AYP1 15%
AGS4 19 RNASEH2A <5%

What are the symptoms? View What are the symptoms?

Medical text written March 2007 by Dr Yanick Crow, Senior Lecturer and Honorary Consultant, Department of Clinical Genetics, Ashley Wing, St James's University Hospital, Leeds, UK.

 

Tell us what you think of this information...

Print whole article Print whole article

 

This Web Site © Copyright, Contact a Family 2008
Contact a Family, 209-211 City Road, London EC1V 1JN
Tel: (020) 7608 8700

Registered Charity No. 284912. Charity registered in Scotland No. SC039169
Company limited by guarantee, registered in England and Wales No. 1633333.
HM Revenue & Customs charity tax reference No. XN54769. VAT Reg. No. GB 749 3846 82