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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Extraneurological signs are frequent in Aicardi-gohtieres. CT scan at 9 months showed frontal atrophy, hypodensity in the white matter, and calcification of the lenticular nuclei.

Aicardi-Goutieres Syndrome Information Page

Email alerts New issue alert. Receive exclusive offers and updates from Oxford Academic. Symptoms progress over several months with the development of microcephaly and pyramidal signs before the disease course stabilises. Advances in understanding obligate biotrophy in rust fungi.

Aicardi-Goutieres Syndrome

The year-old girl had relatively mild AGS, and displayed additional features indicative of mitochondrial dysfunction and aicardi-goutirees neuropathy. In retrospect, 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.

These considerations apart, the main criteria for a diagnosis of AGS are: Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. Since the initial publication on 8 children Aicardi and Goutieresan update of the clinical and radiological presentation and results of interferon alpha studies was published by Goutieres and colleagues, who reviewed 27 cases from 19 families Goutieres et aland by Lanzi and colleagues, who reviewed 21 cases Lanzi Encephalitis among Cree children in northern Quebec.


A second locus for Aicardi-Goutieres syndrome at chromosome 13q The mutations of four different genes are associated with AGS: There are 2 main clinical presentations: The authors considered this to be a distinct type of leukodystrophy transmitted as an autosomal recessive. In a patient with Cree encephalitis, born of consanguineous parents, Crow et al.

During the follow-up period, 3 patients developed seizures, 2 patients showed some improvement in psychomotor development and communication, and only 1 patient showed clear worsening. For all other comments, please send your remarks via contact us.

He presented at age 4 months with developmental delay. Detailed information Professionals Review article English Clinical practice guidelines Deutsch Clinical genetics review English 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.

More on this topic Editor’s Choice. Clinical Synopsis Toggle Dropdown. Seven of the families were of European descent.

Aicardi-Goutieres syndrome

CSF pleocytosis was present in 3 children. The early-onset form affects about 20 percent of all babies who have AGS.


No organizations listed at this time. To define the molecular spectrum of Aicardi-Goutieres syndrome, Rice et al. Brain imaging in the second year of life showed punctate calcification of the basal ganglia and subcortical white matter and CSF pleocytosis.

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

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Please note that all of these symptoms are not present in all cases. In a review, Tolmie et al. The onset phase is usually accompanied aicardi-gotieres the progressive manifestation of the neurological signs typical of AGS.

Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills.

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid CSF lymphocytosis, increased CSF alpha-interferon IFNA1;and negative serologic investigations for common prenatal infections Ali et al.

The first boy was normocephalic with normal IQ, but had spastic diplegia. All 3 had congenital syndromw. Aicardi-Goutieres syndrome is inherited in an autosomal recessive manner see the fact sheet on genetic inheritance to learn more about this.