Τίτλος:
Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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 A TP1A2 locus could not be excluded failed to identify additional mutations.
Συγγραφείς:
Swoboda, K.J.
Kanavakis, E.
Xaidara, A.
Johnson, J.E.
Leppert, M.F.
Schlesinger-Massart, M.B.
Ptacek, L.J.
Silver, K.
Youroukos, S.
Περιοδικό:
Annals of Neurology
Λέξεις-κλειδιά:
alternating hemiplegia of childhood; article; ATP1A2 gene; child; childhood disease; familial disease; familial hemiplegic migraine; female; gene; gene locus; gene mutation; genetic linkage; hemiplegia; human; major clinical study; male; migraine; mutational analysis; nucleotide sequence; pathogenesis; phenotype; priority journal, Age of Onset; Child, Preschool; DNA Mutational Analysis; Family Health; Female; Hemiplegia; Humans; Infant; Male; Migraine with Aura; Mutation; Na(+)-K(+)-Exchanging ATPase; Pedigree; Phenotype; Sequence Alignment; Threonine
