Pediatric Neurology
Volume 24, Issue 4 , Pages 300-302 , April 2001

Lack of progression of brain atrophy in Aicardi-Goutières syndrome

  • Agata Polizzi, MD, PhD

      Affiliations

    • Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    • Corresponding Author InformationCommunications should be addressed to: Dr. Polizzi, Department of Paediatrics, University of Catania, Via S. Sofia, 78, I-95125—Catania, Italy
    • ,
  • Piero Pavone, MD

      Affiliations

    • Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    • ,
  • Enrico Parano, MD, PhD

      Affiliations

    • Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    • Institute of Bioimaging and Pathophysiology of the Central Nervous System, National Research Council, Catania, Italy
    • ,
  • Gemma Incorpora, MD

      Affiliations

    • Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    • ,
  • Martino Ruggieri, MD, PhD

      Affiliations

    • Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    • Institute of Bioimaging and Pathophysiology of the Central Nervous System, National Research Council, Catania, Italy

Received 2 May 2000 ,Accepted 5 December 2000.

References 

  1. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15:49–54
  2. Goutières F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutières syndrome (An update and results of interferon-α studies). Ann Neurol. 1998;44:900–907
  3. Crow YJ, Jackson AP, Roberts E, et al.  Aicardi-Goutières syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet. 2000;67:213–221
  4. van der Knaap MS, Valk J. Leukoencephalopathy, Cerebral calcifications, and chronic cerebrospinal fluid lymphocytosis (Aicardi-Goutières syndrome). In: van der Knaap MS, Valk J, eds. Magnetic resonance of myelin, myelination, and myelin disorders, 2nd ed. Berlin: Springer-Verlag, 1995:285–8.
  5. In:  Taybi H,  Lachman RS editor. Radiology of syndromes, metabolic disorders, and skeletal dysplasia. 4th ed.. St. Louis: Mosby; 1996;
  6. Burn J, Wickramasinghe HT, Harding B, Baraitser M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet. 1986;30:112–116
  7. Black DN, Watters GV, Andermann E. Encephalitis among Cree children in Northern Quebec. Ann Neurol. 1988;24:483–489
  8. Billard C, Dulac O, Bouloche J, et al.  Encephalopathy with calcification of the basal ganglia in children. A reappraisal of the Fahr’s syndrome with respect to 14 new cases. Neuropediatrics. 1989;20:12–19
  9. Bonnermann CG, Meinecke P, Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly and retinal degeneration. J Med Genet. 1991;28:708–711
  10. Dale RC, Ping Tang S, Heckmatt JZ, Tatnall FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics. 2000;31:155–158
  11. Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome?. Neuropediatrics. 2000;31:113
  12. Ostergaard JR, Christensen T, Nehen AM. A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome. Neuropediatrics. 1999;30:38–41
  13. Austyn JM, Wood KJ. Inflammatory mediators and soluble effector mechanisms. In:  Austyn JM,  Wood KJ editor. Principles of cellular and molecular immunology. 2nd ed.. Oxford: Oxford University Press; 1994;p. 501–579
  14. Jelinek DF, Aagaard-Tillery KM, Arendt BK, Arora T, Tschumper RC, Westendorf JJ. Differential human multiple myeloma cell line responsiveness to interferon-alpha. Analysis of transcription factor activation and interleukin 6 receptor expression. J Clin Invest. 1997;99:447–456
  15. Arora T, Jelinek DF. Differential myeloma cell responsiveness to interferon-alpha correlates with differential induction of p19 (INK4d) and cyclin D2 expression. J Biol Chem. 1998;273:11799–11805

PII: S0887-8994(00)00268-X

Pediatric Neurology
Volume 24, Issue 4 , Pages 300-302 , April 2001

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