SCA 17 phenotype with intermediate triplet repeat number

J Neurol Sci. 2014 Oct 15;345(1-2):269-70. doi: 10.1016/j.jns.2014.07.041. Epub 2014 Jul 26.
No abstract available

Keywords: Spinocerebellar ataxia; Thalamic glioma; Triplet repeat.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Brain / pathology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Phenotype
  • Spinocerebellar Ataxias / genetics*
  • TATA-Box Binding Protein / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • TATA-Box Binding Protein
  • TBP protein, human