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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In the literature, they identified 9 previously reported, possibly similar cases of unclassified leukodystrophy with calcifications.

AGS is distinct from the similarly named Aicardi syndromewhich is aicardi-goutieees by agenesis of the corpus callosum, aicardo-goutieres skeletal abnormalities, and chorioretinal abnormalities. The role of interferon-alpha. At 21 months, the second boy had dystonic cerebral palsy, aicardi-goutierss fall-off in head growth, and cognitive delay. 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 Calcific deposits are present in the white matter, thalami, basal ganglia, dentate nuclei and also in the media, adventitia and perivascular spaces of small iacardi-goutieres.

Generally, the first symptoms observed are vomiting, feeding difficulties, and lack of progress in motor and social skills. If the affected child’s mutation is known, then the DNA of foetal cells obtained by chorionic villus sampling at 10—12 weeks of gestation or by amniocentesis 15—18 weeks of gestation can be examined for the presence of the same mutation.

Brain calcification in patients with cerebral lupus.

Orphanet: Aicardi Goutières syndrome

What research is being done? Lebon Paris for their continuous and helpful collaboration in our clinical and scientific work.


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.

There are 2 main clinical presentations: AGS typically has onset in the first year of life, usually at the age of around 4 months. Ada Hamosh – updated: Clinical description The majority of affected infants are born at full term with normal growth parameters. The early-onset form affects about 20 percent of all babies who have AGS.

Aicardi-Goutieres Syndrome Information Page

Early onset encephalopathy with psychomotor delay, aicardi-goutiefes, extrapyramidal signs and microcephaly, the latter appearing in the course of the first year of life. Serial brain imaging of 6 patients showed basal ganglia calcifications that were unchanged in 4 patients but increased in 2 patients.

The parents of the boy were known to be consanguineous; they were Muslims living in England. 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. To date, thanks to the recent identification of four AGS-causing genes among a probably greater number responsible for the syndrome, and also to the emergence of a broader and more heterogeneous clinical spectrum of AGS, over cases 7 have been reported and the disease has started to show a wider geographical distribution.

InfancyNeonatal ICD Cree encephalitis is a familial encephalopathy present in Indian Cree children in Northern Quebec, and it shows many similarities with the most severe forms of AGS progressive microcephaly, cerebral atrophy, calcifications and white matter abnormalities, CSF lymphocytosis and raised levels of INF-alpha, systemic immune abnormalities.

Important systemic symptoms in the early stages of the disease include irritability, feeding and sleeping difficulties, unexplained fevers and the appearance of chilblain-like skin lesions on the fingers, toes and ears.


Seven of the families were of European descent. Experimental evidence suggested that the nucleases defective in AGS are involved in removing endogenously produced nucleic acid species, and that a failure of this removal results in activation of the immune system. Circulating immunocomplexes are sometimes present, but, unlike the non-FCL variant, no risk of developing SLE is reported.

We need long-term secure funding to provide you the information that you need at your fingertips. In any case, the outcome would still be inappropriate secretion of INF-alpha. Over time, aicardi-goutierfs features tend to regress gradually to reach normal levels between the ages of 3 and 4 years; 710 on the other hand, they may persist for many years in some subjects.

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. Aicardi drew attention to cases previously described in the literature that may be the same clinical entity. Treatment of Aicardi-Goutieres Syndrome is symptomatic and supportive.

Abnormal muscle tone, characterized by prolonged, repetitive muscle contractions that may cause twisting or jerking movements of the body or a body part. InBlau et al. Genetic counseling Transmission is autosomal recessive but rare cases of autosomal dominant inheritance have been reported.

There are few studies 329—31 that furnish data on the anatomopathological aspects of AGS. The prognosis depends upon the severity of symptoms.

White matter abnormalities remained stable in all 6 patients. Please consider making a donation now and aicardi-gkutieres in the future. Citing articles via Web of Science Autosomal recessive; Autosomal dominant.