title: CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.
abstract: OBJECTIVE
  Identification and characterization of a novel pedigree with ATP1A3 mutations presenting with CAPOS syndrome and hemiplegic migraine.
  
  
  METHODS
  We have carried out clinical examinations of a three-generation pedigree with CAPOS syndrome and analyzed the ATP1A3 gene to identify causative mutations. The pedigree is of Slavic origin from Southeastern Europe.
  
  
  RESULTS
  The clinical phenotype comprised cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss. Pes cavus was present in two of the four patients studied. The symptoms were triggered by fever and varied in severity in family members, exhibiting a chronic progressive course with or without relapses/remissions. The ATP1A3 c.2452G>A mutation was identified in the affected members of the family, while one of the mutation carriers exhibited both CAPOS and hemiplegic migraine.
  
  
  CONCLUSIONS
  This study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds. In patients with febrile episodes of ataxic encephalopathy or weakness, or both, genetic analysis of the ATP1A3 gene should be warranted. This is also the first report showing the co-occurrence of hemiplegic migraine and CAPOS syndrome in a patient with ATP1A3 mutations. Migraine has not been previously documented in ATP1A3 mutation carriers.
authors.affiliation: Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, 6A Dr. Subotica Street, Belgrade 11000, Serbia. Electronic address: a.potic@yahoo.com.
authors.forename: Ana
authors.initials: A
authors.lastname: Potic
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA. Electronic address: bcn6@pitt.edu.
authors.forename: Bruce
authors.initials: B
authors.lastname: Nmezi
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA. Electronic address: qpadiath@pitt.edu.
authors.forename: Quasar S
authors.initials: QS
authors.lastname: Padiath
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal / Q000235:genetics*; D055771:Serbia; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
keywords: ATP1A3 gene; Ataxia; Cerebellum; Channelopathies; Episodic encephalopathy; Fever; Migraine