The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Tolmie, John; Shillito, Paul; Hughes-Benzie, Rhiannon; Stephenson, John B.

doi:10.1136/jmg.32.11.881

Cited by 90 publications

(66 citation statements)

References 21 publications

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“…Moreover, IFN-α levels were higher in CSF than in serum, which suggested an intrathecal synthesis of this antiviral cytokine, but also that it could play a role in the pathogenesis of this encephalopathy [3,4]. These authors concluded that their study revealed that the syndrome was inherited in an autosomal recessive manner, a conclusion also suggested by previous and further reports [2][3][4][5][6][7][8][9][10][11][12][13][14]. Interestingly, studies in sibs demonstrated that AGS may course with a highly variable phenotype [9,11,12], which suggests that different genes or the existence of different mutations in a single gene may be responsible for the appearance or the evolution of the AGS.…”

Section: Introductionsupporting

confidence: 75%

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

Devesa¹,

Alonso²,

Porto³

et al. 2017

Preprint

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1) Background:The Aicardi-Goutières syndrome (AGS) is a rare congenital disease which courses with severe psychomotor delay in neurodevelopment. We studied a 3-years and 4-months old child with very important growth and weight affectation, microcephaly and loss of his developmental skills from 16-months of age, in which previous metabolic and genetic studies discarded any abnormality. Therefore diagnosis was cerebral palsy of unknown etiology. He presented spastic paraparesia, poor fine motricity, cognitive impairment and absence of oral communication. One year after discharge, a de novo mutation was detected in a single nucleotide in the gene IFIH1: c.2317G>C, being then diagnosed of AGS. 2) Methods: Blood analysis showed very low IGF-1 and slightly elevated liver transaminases. Treatment consisted in GH (0.04 mg/kg/day), melatonin (20 mg/day, and after 3-months 50 mg/day), and daily intense neurorehabilitation (5 days/week). Tests for evaluating childhood developmental milestones (GMFM-88, BDIST and the WeeFim test) were carried out every 3-months. 3) Results: The equivalent age at admission (10-months) increased to 24-months at discharge. There were clear improvements in spasticity, fine motor function, swallowing, cognition and autonomy as well as in communication, growth and weight. 4) Conclusion: Most likely melatonin blocked or decreased the interferon signature, allowing GH and neurorehabiltation to act on neurodevelopment.

show abstract

Section: Introductionsupporting

confidence: 75%

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

Devesa¹,

Alonso²,

Porto³

et al. 2017

Preprint

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“…Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous condition of hitherto unknown mechanism characterized by an early onset, progressive encephalopathy with calcifications of basal ganglia, white matter abnormalities, cerebrospinal fluid (CSF) lymphocytosis, and/or raised level of CSF interferon (IFN)-α (Tolmie et al 1995, McEntagart et al 1998. Here, we report on mitochondrial respiratory chain deficiency in a child fulfilling the criteria of AGS.…”

mentioning

confidence: 99%

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Barnérias

Giurgea

Hertz-Pannier

et al. 2006

Developmental Medicine &Amp; Child Neurology

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Aicardi‐Goutières syndrome (AGS) is an early‐onset progressive encephalopathy characterized by calcifications of the basal ganglia, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis, and/or a raised level of CSF interferon (INF)‐α. We report a female with mitochondrial respiratory chain deficiency fulfilling the criteria of AGS. Disease onset was in the first year of age with seizures and psychomotor regression. To date, at 4 years of age, she presents a severe encephalopathy, increased INF‐? in the CSF, and calcifications of basal ganglia on computerized tomography. Cerebral magnetic resonance imaging showed bilateral and symmetric hypersignal of the posterior white matter. A complex I deficiency of the mitochondrial respiratory chain was found in skeletal muscle, which was associated with a complex IV deficiency in cultured skin fibroblasts. The question of whether this oxidative phosphorylation deficiency is primary or secondary in AGS is open to debate. We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients.

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crocephaly with a rapid course toward a profound deterioration, and death [3] . The disease is inherited as an autosomal recessive trait.

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mentioning

confidence: 99%

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

et al. 2005

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The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Cited by 90 publications

References 21 publications

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

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The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Cited by 90 publications

References 21 publications

A Rare Case of Aicardi-Gouti&egrave;res Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

A Rare Case of Aicardi-Gouti&egrave;res Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

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A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation