Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations

Acta Neuropathol. 2010 Feb;119(2):271-3. doi: 10.1007/s00401-009-0617-x. Epub 2009 Dec 1.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Base Sequence
  • Brain / pathology*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Motor Neurons / pathology*
  • Mutation
  • Nerve Degeneration / pathology*
  • Neuroacanthocytosis / genetics*
  • Neuroacanthocytosis / pathology*
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS13A protein, human
  • Vesicular Transport Proteins