Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis

J Neurol. 2000 Jul;247(7):535-43. doi: 10.1007/s004150070153.


Multiple sclerosis (MS) and Leber's hereditary optic neuropathy (LHON) have been found to occur in combination. Based on an extensive literature search and on a clinical analysis of 55 LHON pedigrees (103 patients) and 40 patients with definite MS, this study concludes that the association of LHON and MS is more than a coincidence, and that carrying a primary LHON mutation is a risk factor for developing MS. All three primary LHON mutations occurring in the European and North American populations have been found to be associated with an MS-like syndrome. The neurological characteristics of MS associated with LHON are indistinguishable from those of MS in general, but the severe and bilateral visual symptoms and signs justify considering these patients as a clinical subgroup of MS and screening them for LHON mutations. However, screening LHON patients for MS appears to be more rewarding.

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Multiple Sclerosis / etiology*
  • Multiple Sclerosis / genetics
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Risk Factors
  • Severity of Illness Index


  • DNA, Mitochondrial