Keywords

White Matter Calcium Deposit Cerebral White Matter White Matter Abnormality Cerebellar White Matter 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References and Further Reading

  1. Abdel-Salam GMH, Zaki MS, Lebon P, Meguid NA. Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr 2004; 93: 929–936PubMedGoogle Scholar
  2. Aicardi J. Aicardi-Goutières syndrome: special type early-onset encephalopathy. Eur J Paediatr 2002; 6: A1–A7Google Scholar
  3. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984; 15: 49–54CrossRefPubMedGoogle Scholar
  4. Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 2000; 31: 113CrossRefPubMedGoogle Scholar
  5. Akwa Y, Hassett DE, Eloranta ML, Sandberg K, Masliah E, Powell H, Lindsay Whitton J, Bloom FE, Campbell IL. Transgenic expression of IFN-α the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol 1998; 161: 5016–5026PubMedGoogle Scholar
  6. Al-Dabbous R, Sabry MA, Farah S, Al-Awadi SA, Sineonov S, Farag TI. The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. Clin Dysmorphol 1998; 7: 127–130PubMedGoogle Scholar
  7. Babitt DP, Tang T, Dobbs J, Berk R. Idiopathic familial cerebrovascular ferrocalcinosis (Fahr’s disease) and review of differential diagnosis of intracranial calcification in children. Am J Roentgenol Radiat Ther Nucl Med 1969; 105: 352–358Google Scholar
  8. Baraitser M, Brett EM, Piesowicz AT. Microcephaly and intracranial calcification in two brothers. J Med Gen 1983; 20: 210–212Google Scholar
  9. Barth PG. The neuropathology of Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2002; 6: A27–A31CrossRefPubMedGoogle Scholar
  10. Barth PG, Walter A, van Gelderen I. Aicardi-Goutières syndrome: a genetic microangiopathy? Acta Neuropathol (Berl) 1999; 98: 212–216CrossRefPubMedGoogle Scholar
  11. Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr’s syndrome with respect to 14 new cases. Neuropediatrics 1989; 20: 12–19PubMedGoogle Scholar
  12. Black DN, Watters GV, Andermann E, Dumont C, Kabay ME, Kaplan P, Meagher-Villemure K, Michaud J, O’Gorman G, Reece E, Tsoukas C, Wainberg MA. Encephalitis among cree children in Northern Quebec. Ann Neurol 1988; 24: 483–489PubMedGoogle Scholar
  13. Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome. A new phenotype. Neurology 2003; 61: 642–647PubMedGoogle Scholar
  14. Boltshauser E, Steinlin M, Boesch C, Martin E, Schubiger G. Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy. Neuropediatrics 1991; 22: 33–35PubMedGoogle Scholar
  15. Bönnemann CG, Meinecke P. Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis — another case of the Aicardi-Goutières syndrome. Neuropediatrics 1992; 23: 157–161PubMedGoogle Scholar
  16. Bönnemann CG, Meinecke P, Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J Med Genet 1991; 28: 708–711PubMedGoogle Scholar
  17. Burn J, Wickramasinghe HT, Harding B, Baraitser M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 1986; 30: 112–116PubMedGoogle Scholar
  18. Campbell IL, Krucker T, Steffensen S, Akwa Y, Powell HC, Lane T, Carr DJ, Gold LH, Henriksen SJ, Siggins GR. Structural and functional neuropathology in transgenic mice with CNS expression of IFN-α. Brain Research 1999; 835: 46–61CrossRefPubMedGoogle Scholar
  19. Crow Y. The genetics of Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2002; 6: A33–A35CrossRefPubMedGoogle Scholar
  20. Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BCJ, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JBP, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 2000; 67: 213–221CrossRefPubMedGoogle Scholar
  21. Dale RC, Ping Tang S, Heckmatt JZ, Tatnall FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 2000; 31: 155–158CrossRefPubMedGoogle Scholar
  22. Fauré S, Bordelais I, Marquette C, Rittey C, Campos-Castello J, Goutières F, Ponsot G, Weissenbach J, Lebon P. Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? Clin Genet 1999; 56: 149–153PubMedGoogle Scholar
  23. Goutières F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutières syndrome: an update and results of interferon-α studies. Ann Neurol 1998; 44: 900–907CrossRefPubMedGoogle Scholar
  24. Jervis GA. Microcephaly with extensive calcium deposits and demyelination. J Neuropathol Exp Neurol 1954; 13: 318–329PubMedGoogle Scholar
  25. Kato M, Ishii R, Honma A, Ikeda H, Hayasaka K. Brainstem lesion in Aicardi-Goutières syndrome. Pediatr Neurol 1998; 19: 145–147PubMedGoogle Scholar
  26. Koul R, Chacko A, Surendranath J, Sankhla D. Aicardi-Goutières syndrome in siblings. J Child Neurol 2001; 16: 759–761PubMedGoogle Scholar
  27. Kuijpers TW. Aicardi-Goutières syndrome: immunophenotyping in relation to interferon-alpha. Eur J Paediatr Neurol 2002; 6: A59–A64CrossRefPubMedGoogle Scholar
  28. Kumar D, Rittey C, Cameron AH, Variend S. Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières. Am J Med Genet 1998; 75: 508–515CrossRefPubMedGoogle Scholar
  29. Lanzi G, Fazzi E, D’Arrigo S. Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature. Eur J Paediatr Neurol 2002; 6: A9–A22CrossRefPubMedGoogle Scholar
  30. Lebon P, Badoual J, Ponsot G, Goutières F, Hémeury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 1988; 84: 201–208CrossRefPubMedGoogle Scholar
  31. Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2002; 6: A47–A53CrossRefPubMedGoogle Scholar
  32. McEntagart M, Kamel H, Lebon P, King MD. Aicardi-Goutières syndrome: an expanding phenotype. Neuropediatrics 1998; 29: 163–167PubMedGoogle Scholar
  33. Mehta L, Trounce JQ, Moore JR, Young ID. Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 1986; 23: 157–160PubMedGoogle Scholar
  34. Monastiri K, Salem N, Korbi S, Snoussi N. Microcephaly and intracranial calcification: two new cases. Clin Genet 1997; 51: 142–143PubMedGoogle Scholar
  35. Østergaard JR, Christensen T, Nehen AM. A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome. Neuropediatrics 1999; 30: 38–41PubMedGoogle Scholar
  36. Polizzi A, Pavone P, Parana E, Incorpora G, Ruggieri M. Lack of progression of brain atrophy in Aicardi-Goutières syndrome. Pediatr Neurol 2001; 24: 300–302CrossRefPubMedGoogle Scholar
  37. Razavi-Encha F, Larroche JC, Gaillard D. Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Neuropediatrics 1988; 19: 72–79PubMedGoogle Scholar
  38. Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, Stevenson R, Baraitser M. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 1994; 52: 58–65PubMedGoogle Scholar
  39. Schwarz KB, Ferrie CD, Woods CG. Two siblings with a new Aicardi-Goutières-like syndrome. Dev Med Child Neurol 2002; 44: 422–425CrossRefPubMedGoogle Scholar
  40. Slee J, Lam G, Walpole I. Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. Am J Med Genet 1999; 84: 330–333CrossRefPubMedGoogle Scholar
  41. Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JBP. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 1995; 32: 881–884PubMedGoogle Scholar
  42. Troost D, van Rossum A, Veiga Pires J, Willemse J. Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies — a separate neurodevelopmental entity. Neuropediatrics 1984; 15: 102–109PubMedGoogle Scholar
  43. Verrips A, Hiel JAP, Gabreëls FJM, Wesseling P, Rotteveel JJ. The Aicardi-Goutières syndrome: variable clinical expression in two siblings. Pediatr Neurol 1997; 16: 323–325CrossRefPubMedGoogle Scholar
  44. Vivarelli R, Grosso S, Cioni M, Galluzzi P, Monti L, Morgese G, Balestri P. Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. Brain Dev 2001; 23: 18–23CrossRefPubMedGoogle Scholar
  45. Wieczorek D, Gillessen-Kaesbach G, Passarge E. A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? Genet Couns 1995; 6: 297–302PubMedGoogle Scholar

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