title: Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
abstract: The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.
authors.affiliation: Department of Neurology, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610, USA.
authors.forename: S H
authors.initials: SH
authors.lastname: Subramony
authors.forename: Joel
authors.initials: J
authors.lastname: Advincula
authors.forename: Susan
authors.initials: S
authors.lastname: Perlman
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Rosales
authors.forename: Lillian V
authors.initials: LV
authors.lastname: Lee
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.forename: Michael F
authors.initials: MF
authors.lastname: Waters
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D010679:Philippines; D051670:Shaw Potassium Channels / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000151:congenital; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*
chemical_list: C489594:KCNC3 protein, human; D051670:Shaw Potassium Channels; D006639:Histidine; D001120:Arginine
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