A number sign (#) is used with this entry because of evidence that Aicardi- Goutieres syndrome-1 (AGS1) is caused by homozygous or compound heterozygous. Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and. Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the brain , spinal cord and immune system. Learn about symptoms, diagnosis and.

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Aicardi–Goutières syndrome | British Medical Bulletin | Oxford Academic

Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control.

Only comments written in English can be processed. Similarly, recent reports of genetically confirmed cases treated syndtome high doses of steroids or i.

Often showing a clearly leukodystrophic pattern, they are prevalent in the periventricular more than the subcortical 19 white matter and can also be particularly prominent in frontal and syndroe regions, 561820 sometimes showing cystic degeneration Fig. Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Prevalence: The authors suggested a probable genetic condition with autosomal recessive inheritance.

Similar microcephaly and intracranial calcification with developmental delay occurs following intrauterine infection but is distinguishable by purpuric rash and associated thrombocytopenia.

Other search option s Alphabetical list. The build up of nucleic acids, particularly non-degraded ssDNA, 46 occurring in the absence of TREX1 enzymatic activity, could activate the TLR9 toll-like receptors in the endoplasmic reticulum: Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent aicardi-goutierds may also erroneously suggest an infective process Crow et al.

Aicardi-Goutieres syndrome is a rare, genetically determined progressive encephalopathy. Serial CSF studies in 3 patients showed reduction of alpha-interferon levels over time, although the level remained elevated in 1 patient. This means that you can treat the symptoms, but there is no cure for the disease. CT scan at 9 months showed frontal atrophy, hypodensity in the white matter, and calcification of the lenticular nuclei.

InBlau et al. Detailed information Professionals Review article English Clinical practice guidelines Deutsch Clinical genetics review English Furthermore, patients receiving INF treatment e. Neuroradiologically, AGS is characterized by three cardinal features: It is accepted that AGS can be mistaken for a congenital infection and that the diagnostic significance of its cardinal signs raised INF-alpha levels, basal ganglia calcifications is different in different stages of the disease.


Aicardi-Goutieres syndrome is inherited in an autosomal recessive manner see the fact sheet on genetic inheritance to learn more about aicaddi-goutieres. Published by Oxford University Press. These cells are normally only elevated during infection, so the combination of lymphocytosis combined with a lack of evidence of infection can support a diagnosis of Aicardi-Goutieres Syndrome. Below is a list of symptoms that may be present for Aicardi-Goutieres syndrome, along with definitions as necessary.

Orphanet: Aicardi Goutières syndrome

White matter abnormalities remained stable in all 6 patients. This was suspected from as early as the first clinical description of the disease. The vast majority of affected subjects present severe motor and cognitive impairment: In This Article Introduction.

The rare cases in which it is inherited as an autosomal dominant trait heterozygous TREX1 mutation appear to be sporadic and attributable to de novo mutations. After a period of apparent normality, evidence of encephalopathy began at age 3 months. A number of children have a noticeable startle reaction to sudden noise. It is also important to consider the possibility of AGS in cases of unexplained early onset leukodystrophy, both those with predominant fronto-temporal white matter involvement with cyst formation—resembling Alexander disease or vanishing white matter disease—and those with more diffuse and non-specific white matter involvement, especially when CT is not performed.

In any case, multiple substrates 47 of TREX1 might accumulate in absence of TREX1 and result is an increased genic expression and synthesis of cytokines, such as INFs, which have long been suggested to play a role in the pathogenesis of the lesions typical of AGS.

Syndrpme the presence of a clinical picture suggestive of AGS, the cerebral calcifications constitute a very important sign; not easily identified on MRI, they should carefully be sought on CT scans in all cases of unexplained leukoencephalopathy.

Uggetti, for providing the neuroradiological images, and to Dr Y.

Aicardi-Goutieres Syndrome

The data from the study of Rice et al. Sicardi-goutieres sincere thanks go to Dr C. B T1-weighted coronal Shndrome of the brain shows symmetrical, bilateral hypointensity of the white matter and supratentorial atrophy with enlargement of the ventricular system and sulci, while the cerebellum appears quite syndrme. Immunosuppressive therapy in the active stage of the disease does not seem to produce any real change in the clinical course, but more data are needed.


Aicardi-Goutieres syndrome is difficult to diagnose, as many of the symptoms overlap with other disorders. A aicardi-boutieres exonuclease assay indicated close-to-normal TREX1 enzymatic activity.

AGS is phenotypically similar to in utero viral infection. Familial systemic lupus erythematosus and congenital infection-like syndrome. A T2-weighted axial MRI of the brain shows symmetrical, bilateral hyperintensity of the white matter with areas of cystic degeneration in the frontal regions. Genetic counseling Transmission is autosomal recessive but rare cases of autosomal dominant inheritance have been reported.

The documents contained in this web site are presented for information purposes only. Abnormal muscle tone, characterized by prolonged, repetitive muscle contractions that may cause twisting or jerking movements of the body or a body part.

AGS typically has onset in the first year of life, usually at the age of around 4 months. Close mobile search navigation Article navigation. The data suggested the existence of locus heterogeneity in this syndrome.

Many genes are involved in the pathogenesis of SLE, considered the prototype of autoimmune diseases. Health care resources for this disease Expert centres Diagnostic tests 52 Patient organisations 87 Orphan drug s 2. A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. The majority of affected infants are born at full term with normal growth parameters. In aicarfi-goutieres, this was a seminal paper because interferon alpha in later studies proved to be not an epiphenomenon, but a triggering factor in the whole disease process of Aicardi-Goutieres syndrome.

A correction has been published: In addition, CT scan showed diffuse syndroms progressive brain atrophy, deep white matter hypodensities, and bilateral symmetric calcifications of the basal ganglia including the thalamus.