A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

J Neurol. 2008 Sep;255(9):1429-31. doi: 10.1007/s00415-008-0936-1. Epub 2008 Jul 11.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Base Sequence
  • Brain / metabolism
  • Brain / pathology
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Heat-Shock Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / genetics*
  • Pedigree
  • Spinal Cord / metabolism
  • Spinal Cord / pathology

Substances

  • Codon, Nonsense
  • Heat-Shock Proteins
  • SACS protein, human