Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

Neurology. 2009 Mar 31;72(13):1185-6. doi: 10.1212/01.wnl.0000345356.40399.eb.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / physiology
  • Humans
  • Middle Aged
  • Multiple System Atrophy / diagnosis
  • Multiple System Atrophy / enzymology*
  • Multiple System Atrophy / genetics*
  • Multiple System Atrophy / pathology
  • Mutation / genetics*
  • Neurons / enzymology
  • Neurons / pathology
  • Signal Transduction / genetics
  • alpha-Synuclein / genetics
  • alpha-Synuclein / metabolism

Substances

  • alpha-Synuclein
  • Glucosylceramidase