Early-onset optic neuropathy as initial clinical presentation in SPG7

J Neurol. 2014 Sep;261(9):1820-1. doi: 10.1007/s00415-014-7432-6. Epub 2014 Jul 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Brain / pathology*
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Metalloendopeptidases / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / etiology*
  • Optic Atrophy / genetics
  • Spastic Paraplegia, Hereditary / complications
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / pathology

Substances

  • Metalloendopeptidases
  • SPG7 protein, human
  • ATPases Associated with Diverse Cellular Activities