Aicardi-Goutieres syndrome: An expanding phenotype

Neuropediatrics

Volumn 29, Issue 3, 1998, Pages 163-167

  McEntagart, M ^a   Kamel, H ^b   Lebon, P ^c   King, M D ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b BEAUMONT HOSPITAL   (Ireland)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

Aicardi Goutieres syndrome; Basal ganglia calcification; Interferon alpha

Indexed keywords

ALPHA INTERFERON;

AICARDI SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CEREBRAL PALSY; CEREBROSPINAL FLUID; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; FAHR DISEASE; HUMAN; MALE; PHENOTYPE; PLEOCYTOSIS; PRIORITY JOURNAL; SPASTICITY; WHITE MATTER; BRAIN; CALCINOSIS; DISEASE COURSE; EXTRAPYRAMIDAL SYNDROME; GENETICS; INFANT; LYMPHOCYTOSIS; NERVE TRACT; NEWBORN; NUCLEAR FAMILY; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE; SYNDROME;

BASAL GANGLIA DISEASES; BRAIN; BRAIN DISEASES; CALCINOSIS; CONSANGUINITY; DISEASE PROGRESSION; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; INTERFERON-ALPHA; LYMPHOCYTOSIS; MALE; NEURAL PATHWAYS; NUCLEAR FAMILY; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 0031596154     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973555     Document Type: Article

References (12)

1. Aicardi, J, Goutières, F. A progressive encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 15, 49-54 (1984).
2. Black, D. N., Watters, G. V., Andermann, E., Dumont, C., Kabay, M. E., Kaplan, P., et al. Encephalitis among Cree children in Northern Quebec. Ann. Neurol. 24, 483-489 (1988).
3. Bönnemann, C. G., Meinecke, P., Reich, H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly and retinal degeneration. Two siblings confirming a probably distinct entity. J. Med. Genet. 28, 708-711 (1991).
4. Bönnemann, C. G., Meinecke, P. Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutières syndrome. Neuropediatrics 23, 157-161 (1992).
5. Lebon, P., Daffos, F., Checoury, A., Grangeot-Keros, L., Forestier, F., Toublanc, J. E. Presence of an acid labile alpha interferon in sera from fetuses and children with congenital rubella. J. Clin. Microbiol. 21, 775-778 (1985).
6. Lebon, P., Badoual J., Ponsot, G., Goutières, F., Hemeury-Cukier, F., Aicardi, J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J. Neurol. Sci. 84, 201-208 (1988).
7. Lebon, P., Black, D., Goutières, F., Ponsot, G., Landrieu, C., Rittey, C., et al. Virus infection m a genetic terrain or genetic disease involving the alpha interferon system? J. Interferon Cytokine Res. 7, 459 (1996)
8. Reardon, W., Hockey, A., Silberstein, P., Kedall, B., Farag, T. I., Swash, M., et al. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification and CNS disease. Am. J. Med. Genet. 52, 58-65 (1994).
9. Rich, S. A. Human lupus inclusions and interferon. Science 213, 772-775 (1981).
10. Tolmie, J. L., Shillito, P., Huges-Benzie, R., Stephenson, J. P. B. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J. Med. Genet. 32, 881-884 (1995).
11. Personal Communication: Prof. J. B. P. Stephenson, Royal Hospital for Sick Children Glasgow 1997.
12. Verrips, A., Hiel, J. A. P., Gabreëls, F. J. M., Wesseling, P., Rotteveel, J. J. The Aicardi-Goutières syndrome: variable clinical expression in two siblings. Pediatr. Neurol. 16, 323-325 (1997).