Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

J Neurol. 2012 Aug;259(8):1749-51. doi: 10.1007/s00415-012-6444-3. Epub 2012 Feb 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Apraxias / complications
  • Apraxias / diagnosis
  • Apraxias / genetics
  • C9orf72 Protein
  • DNA Repeat Expansion / genetics
  • Frontotemporal Dementia / complications
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics*
  • Humans
  • Male
  • Middle Aged
  • Motor Neurons / pathology
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics*
  • Phenotype*
  • Proteins / genetics*
  • Psychotic Disorders / complications
  • Psychotic Disorders / diagnosis
  • Psychotic Disorders / genetics*
  • Vision Disorders / complications
  • Vision Disorders / diagnosis
  • Vision Disorders / genetics*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Proteins