Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene

J Invest Dermatol. 2008 Jun;128(6):1597-9. doi: 10.1038/sj.jid.5701210. Epub 2008 Jan 10.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Cockayne Syndrome / complications*
  • Cockayne Syndrome / genetics*
  • DNA Helicases / biosynthesis*
  • DNA Helicases / genetics
  • DNA Mutational Analysis
  • DNA Repair
  • DNA Repair Enzymes / biosynthesis*
  • DNA Repair Enzymes / genetics
  • Female
  • Gene Expression Regulation*
  • Humans
  • Middle Aged
  • Mutation*
  • Neurodegenerative Diseases / complications*
  • Neurodegenerative Diseases / genetics*
  • Oxidative Stress
  • Poly-ADP-Ribose Binding Proteins
  • Ultraviolet Rays

Substances

  • Poly-ADP-Ribose Binding Proteins
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes