Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

Cytogenet Genome Res. 2003;100(1-4):175-83. doi: 10.1159/000072852.

Abstract

We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below.

Publication types

  • Review

MeSH terms

  • Brain Stem / metabolism
  • Brain Stem / pathology
  • Family Health
  • Female
  • Gene Expression
  • Genes / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Penetrance
  • RNA, Long Noncoding
  • RNA, Untranslated
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / pathology
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • ATXN8OS gene product, human
  • Nerve Tissue Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated