GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

Acta Neuropathol Commun. 2018 Oct 24;6(1):112. doi: 10.1186/s40478-018-0616-z.
No abstract available

Keywords: Adult-onset Alexander disease; Alternative transcripts; GFAP; Sanger sequencing.

Publication types

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

MeSH terms

  • Activin Receptors, Type II / genetics
  • Adult
  • Aged
  • Alexander Disease / diagnosis*
  • Alexander Disease / genetics
  • Family Health
  • Glial Fibrillary Acidic Protein / genetics*
  • Glial Fibrillary Acidic Protein / metabolism
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Superior Olivary Complex / diagnostic imaging

Substances

  • Glial Fibrillary Acidic Protein
  • ACVRL1 protein, human
  • Activin Receptors, Type II