Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):249-51. doi: 10.3109/21678421.2014.977296. Epub 2014 Dec 1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism
  • Aged
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • C9orf72 Protein
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • DNA Repeat Expansion / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Humans
  • Proteins / genetics*
  • Sequestosome-1 Protein
  • Spinal Cord / metabolism
  • Spinal Cord / pathology

Substances

  • Adaptor Proteins, Signal Transducing
  • C9orf72 Protein
  • C9orf72 protein, human
  • DNA-Binding Proteins
  • Proteins
  • SQSTM1 protein, human
  • Sequestosome-1 Protein