Pediatric Neurology
Volume 41, Issue 6 , Pages 448-450 , December 2009

Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome

  • Mercedes Serrano, MD, PhD

      Affiliations

    • Department of Neurology, Hospital “Sant Joan de Déu,” University of Barcelona, Barcelona, Spain
    • Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Health “Carlos III,” Barcelona, Spain
    • Corresponding Author InformationCommunications should be addressed to: Dr. Serrano; Pediatric Neurology Department; Hospital Sant Joan de Déu; Passeig de Sant Joan de Déu, 2; 08950 Esplugues de Llobregat; Barcelona, Spain.
    • ,
  • Aida Ormazábal, PhD

      Affiliations

    • Department of Clinical Biochemistry, Hospital “Sant Joan de Déu,” University of Barcelona, Barcelona, Spain
    • Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Health “Carlos III,” Barcelona, Spain
    • ,
  • Jordi Antón, MD, PhD

      Affiliations

    • Department of Rheumatology Unit, Hospital “Sant Joan de Déu,” University of Barcelona, Barcelona, Spain
    • ,
  • Juan I. Aróstegui, MD, PhD

      Affiliations

    • Department of Immunology, CDB, Hospital Clinic, Clinical Foundation for Biomedical Research, Barcelona, Spain
    • ,
  • Àngels García-Cazorla, MD, PhD

      Affiliations

    • Department of Neurology, Hospital “Sant Joan de Déu,” University of Barcelona, Barcelona, Spain
    • Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Health “Carlos III,” Barcelona, Spain

Received 25 February 2009 ,Accepted 30 June 2009.

References 

  1. Prieur AM, Griscelli C, Lampert F, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl. 1987;66:57–68
  2. Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46:3340–3348
  3. Azumagawa K, Suzuki S, Tanabe T, Wakamiya E, Kawamura N, Tamai H. Neopterin, biopterin, and nitric oxide concentrations in the cerebrospinal fluid of children with central nervous system infections. Brain Dev. 2003;25:200–202
  4. Huber C, Batchelor JR, Fuchs D, et al. Immune response-associated production of neopterin: release from macrophages primarily under control of interferon-gamma. J Exp Med. 1984;160:310–316
  5. Ormazabal A, García-Cazorla A, Fernández Y, Fernández-Álvarez E, Campistol J, Artuch R. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods. 2005;142:153–158
  6. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301–305
  7. Pörksen G, Lohse P, Rösen-Wolff A, et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198 M mutation in the CIAS1 gene in three German patients: expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur J Haematol. 2004;73:123–127
  8. Ting TV, Scalzi LV, Hashkes PJ. Nonclassic neurologic features in cryopyrin-associated periodic syndromes. Pediatr Neurol. 2007;36:338–341
  9. Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate NALP3 inflammasome. Nature. 2006;440:237–241
  10. Fritz JH, Ferrero RL, Philpott DJ, Girardin SE. Nod-like proteins in immunity, inflammation and disease. Nat Immunol. 2006;7:1250–1257
  11. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20:319–325
  12. Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet. 2007;81:713–725

PII: S0887-8994(09)00353-1

doi: 10.1016/j.pediatrneurol.2009.06.008

Pediatric Neurology
Volume 41, Issue 6 , Pages 448-450 , December 2009

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