title: Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
abstract: Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations.
authors.affiliation: Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. Swoboda@genetics.utah.edu
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Swoboda
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Athina
authors.initials: A
authors.lastname: Xaidara
authors.forename: Justine E
authors.initials: JE
authors.lastname: Johnson
authors.forename: Mark F
authors.initials: MF
authors.lastname: Leppert
authors.forename: Mylynda B
authors.initials: MB
authors.lastname: Schlesinger-Massart
authors.forename: Louis J
authors.initials: LJ
authors.lastname: Ptacek
authors.forename: Kenneth
authors.initials: K
authors.lastname: Silver
authors.forename: Sotiris
authors.initials: S
authors.lastname: Youroukos
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020325:Migraine with Aura / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016415:Sequence Alignment / Q000379:methods; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase