Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13

Cerebellum. 2013 Dec;12(6):932-6. doi: 10.1007/s12311-013-0507-6.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Arginine / genetics*
  • Cerebellum / pathology
  • Family Health
  • Female
  • Genetic Linkage
  • Genotype
  • Histidine / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Philippines
  • Shaw Potassium Channels / genetics*
  • Spinocerebellar Ataxias / congenital
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / pathology
  • Spinocerebellar Degenerations / physiopathology*

Substances

  • KCNC3 protein, human
  • Shaw Potassium Channels
  • Histidine
  • Arginine

Supplementary concepts

  • Spinocerebellar ataxia 13