title: Chorea in a patient with cryopyrin-associated periodic syndrome.
abstract: OBJECTIVE
  To describe a patient with cryopyrin-associated periodic syndrome (CAPS) with an uncommon neurologic phenotype and a rare underlying genetic mutation.
  
  
  RESULTS
  Our patient had CAPS with a rare NLPR3 missense mutation (p.Tyr859Cys) in exon 6 with chorea as the major symptom. Clinical symptoms were associated with persistent inflammatory changes of the CSF and serum and included elevated anticardiolipin immunoglobulin G; MRI showed prolonged gadolinium enhancement of 2 chronic inflammatory lesions. Conventional immunosuppressive treatment with prednisolone and hydroxychloroquine was insufficient. Neurologic symptoms, laboratory/chemical measures, and MRI abnormalities almost completely normalized following interleukin (IL)-1β blockade with anakinra.
  
  
  CONCLUSIONS
  This case is unique for its uncommon neurologic phenotype, the rare underlying genetic mutation, and the long course of the disease as well as almost complete recovery following appropriate therapy. In addition, the chronic inflammatory white matter lesions observed on brain MRI and the responsiveness to IL-1β blockade with anakinra are unusual.
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany. christopher.schwarzbach@umm.de.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Schwarzbach
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany.
authors.forename: Wilhelm H
authors.initials: WH
authors.lastname: Schmitt
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany.
authors.forename: Kristina
authors.initials: K
authors.lastname: Szabo
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany.
authors.forename: Hansjoerg
authors.initials: H
authors.lastname: Bäzner
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany.
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hennerici
authors.affiliation: From the Departments of Neurology (C.J.S., K.S., M.G.H., C.B.) and Nephrology (W.H.S.), Universitätsklinikum Mannheim, University of Heidelberg; and the Department of Neurology (H.B.), Bürgerhospital, Klinikum Stuttgart, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Blahak
mesh_terms: D000328:Adult; D018501:Antirheumatic Agents / Q000008:administration & dosage / Q000494:pharmacology*; D002352:Carrier Proteins / Q000235:genetics; D002819:Chorea / Q000188:drug therapy* / Q000209:etiology; D056587:Cryopyrin-Associated Periodic Syndromes / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000008:administration & dosage / Q000494:pharmacology*; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D066127:White Matter / Q000473:pathology*
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human