title: Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
abstract: We report a Japanese family carrying a T666M missense mutation of CACNA1A. Affected members demonstrated a strikingly wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia. Despite such variability of the clinical features, they demonstrated similar magnetic resonance imaging findings demonstrating cerebellar atrophy predominantly of the cerebellar vermis. These magnetic resonance images appeared not to correlate with clinical severity. Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, N-15 W-7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Norio
authors.initials: N
authors.lastname: Kobayashi
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Tomoko
authors.initials: T
authors.lastname: Aoki
authors.forename: Takako
authors.initials: T
authors.lastname: Watanabe
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
mesh_terms: D000328:Adult; D000368:Aged; D001284:Atrophy / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D003128:Coma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006429:Hemiplegia / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008881:Migraine Disorders / Q000150:complications* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type