Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation

Acta Neurol Scand. 1995 May;91(5):326-9. doi: 10.1111/j.1600-0404.1995.tb07016.x.


This report describes a multiple sclerosis (MS)-like disorder in a male patient with Leber's hereditary optic neuropathy (LHON) harbouring the mitochondrial DNA 11778 base pair mutation. Given the population frequencies of MS and LHON, coincidental occurrence is unlikely. Hypothetically the mitochondrial mutation underlying LHON may contribute to presumably immunologically mediated involvement of other myelinated axons in the central nervous system in susceptible individuals, producing a disorder indistinguishable from MS. We recommend that investigation for oligoclonal bands in CSF, evoked potentials and MR brain scan in these patients be supplemented with mitochondrial DNA analysis.

Publication types

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

MeSH terms

  • Adult
  • Base Composition / genetics
  • Brain / pathology
  • Brain / physiopathology
  • DNA Mutational Analysis*
  • DNA, Mitochondrial / genetics*
  • Electroencephalography
  • Gene Frequency
  • Humans
  • Immunoglobulins / cerebrospinal fluid
  • Magnetic Resonance Imaging
  • Male
  • Multiple Sclerosis / diagnosis
  • Multiple Sclerosis / genetics*
  • Neurologic Examination
  • Oligoclonal Bands
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics*
  • Optic Nerve / pathology
  • Optic Nerve / physiopathology
  • Pedigree


  • DNA, Mitochondrial
  • Immunoglobulins
  • Oligoclonal Bands