Nonclassic Neurologic Features in Cryopyrin-Associated Periodic Syndromes

Tracy V. Ting, Lisabeth Scalzi, Philip J. Hashkes

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Neurologic manifestations in early childhood occur in the cryopyrin-associated periodic syndromes, especially in the chronic infantile neurological, cutaneous, and articular syndrome (CINCA) and the Muckle-Wells syndrome. Cryopyrin-associated periodic syndromes are commonly linked to mutations in the cold-induced autoinflammatory syndrome gene CIAS1 (current symbol, NLRP3) on chromosome 1. We describe three children with atypical cryopyrin-associated periodic syndromes, neurologic symptoms, and a Q705K mutation. Cryopyrin-associated periodic syndrome screening should be considered for children with neurologic and other periodic symptoms with elevated inflammatory markers. This syndrome is treatable with anakinra.

Original languageEnglish (US)
Pages (from-to)338-341
Number of pages4
JournalPediatric Neurology
Issue number5
StatePublished - May 1 2007

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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