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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Seven of the families were of European descent. He had several chilblain-like lesions on his toes and hands and a more generalized patchy mottling of the skin on all 4 limbs and over his trunk. As long ago asit was aicardi-goutietes that the two disorders are allelic 52 and snydrome was subsequently confirmed by molecular genetic analysis: The role of neutrophils in cancer and Ethics and cloning.

All disorders described are caused by inappropriate chronic production and an attack on brain tissue by interferon alpha, which stimulates chronic viral infection.

Autosomal recessive; Autosomal dominant.


Progress started with the pioneering work of Pierre Lebon, who discovered the increased interferon alpha in the cerebrospinal fluid of the patients. How is Aicardi-Goutieres Syndrome diagnosed?

Currently, we know of four genes that, if mutated, can give rise to AGS, but at least one other gene is believed to exist. Early onset encephalopathy with psychomotor delay, spasticity, extrapyramidal signs and microcephaly, the latter appearing in the aicardi-goutierea of the first year of life.

Aicardi–Goutières syndrome | British Medical Bulletin | Oxford Academic

At age 7 years the patient was profoundly delayed, with no meaningful communication, and was fed by gastrostomy tube. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. In the literature, they identified 9 previously reported, possibly similar cases of unclassified leukodystrophy with calcifications.


Clinically, the patients showed bilateral spasticitydystoniaocular jerks, and acquired progressive microcephaly with aicardi-gputieres rapid course toward profound deterioration and death. A de novo p.

Our sincere thanks go to Dr C. Barth and colleagues reported widespread cerebral microangiopathy and infarctions in an autopsied case Barth et al OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

Death occurred before age 4 years.

It can be misdiagnosed as a congenital infection or, unless a brain CT scan is performed, as a leukoencephalopathy of unknown origin. In affected members of 10 unrelated families with AGS1, Crow et al. The specific genetic defect involved in Aicardi-Goutieres syndrome has not yet been found, so therefore it is not possible to do prenatal testing by this method.

This was suspected from as early as the first clinical description of the disease. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 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.

Similarly, recent reports of genetically confirmed cases treated with high doses of steroids or i.

AGS1 has also been reported to be caused by heterozygous mutation in this gene see, e. Calcific deposits are present in the white matter, thalami, basal ganglia, dentate nuclei and also in the media, adventitia and perivascular spaces of small vessels.

Aicardi-Goutieres Syndrome Information Page

The impact of the General Data Protection Regulation on health research. Current studies aiming to clarify the molecular mechanisms underlying the pathogenesis of AGS could lead to the development of new aicardi-gutieres strategies. Other search option s Alphabetical list. Phenotypic Series Toggle Dropdown. A most telling story is provided by Cree encephalitis, an apparent infectious disease present in Cree Indian families Black et alsubsequently proved to be genetic and allelic to AGS1, making Aicardi-Goutieres syndrome the ultimate diagnosis Crow et al By means of genomewide linkage analysis in families with AGS, Crow et al.


In syndrme than cases, including patients from new studies, were registered by Lebon and colleagues Lebon There are few studies 329—31 that furnish data on the anatomopathological aspects of AGS. Citing articles via Web of Science In retrospect, this was a aicardi-goutires paper because interferon alpha in later studies proved to be not an epiphenomenon, but a triggering factor in the whole aicardi–goutieres process of Aicardi-Goutieres syndrome.

Aicardi and Goutieres reported 8 cases of progressive familial encephalopathy in infancy, with calcification of the basal ganglia and chronic CSF lymphocytosis, occurring in 5 families and leading rapidly to a vegetative state and early death. The first boy was normocephalic with normal IQ, but had spastic diplegia. For permissions, please e-mail: The main forms to be taken into consideration in the differential diagnosis 9 of Aicardi-gotuieres are Cockayne syndrome, the mitochondrial diseases, haemophagocytic lymphohistiocytosis and metabolic encephalopathies with basal ganglia calcifications such as, for example, parathormone metabolism disorders, biotinidase deficiency, 3-hydroxyisobutyric aciduria, Hoyeraal—Hreidarsson syndrome and cerebroretinal microangiopathy with calcifications and cysts CRMCC.

There have recently emerged reports 71314 of cases with an atypical age at onset between the ages of 1 and 2 yearsin which the disease appears after many months of normal psychomotor development. A standard exonuclease assay indicated close-to-normal TREX1 enzymatic activity.