Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

S. H. Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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 SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positivemembers of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

Original languageEnglish (US)
Pages (from-to)932-936
Number of pages5
JournalCerebellum
Volume12
Issue number6
DOIs
StatePublished - Dec 2013

Keywords

  • Ataxia
  • Neurodegeneration
  • Neurogenetics
  • Spinocerebellar ataxia type 13
  • Voltage-gated potassium channel

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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