Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration

Eur Neurol. 2002;47(2):128-9. doi: 10.1159/000047968.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Ataxin-7
  • Ataxins
  • Chromosome Aberrations
  • Diagnosis, Differential
  • Genes, Dominant / genetics
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics
  • Pigment Epithelium of Eye*
  • Proteins / genetics
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*

Substances

  • ATXN7 protein, human
  • Ataxin-7
  • Ataxins
  • Nerve Tissue Proteins
  • Proteins