MRI in Leber's hereditary optic neuropathy: The relationship to multiple sclerosis

Lucy Matthews, Christian Enzinger, Franz Fazekas, Alex Rovira, Olga Ciccarelli, Maria Teresa Dotti, Massimo Filippi, Jette L. Frederiksen, Antonio Giorgio, Wilhelm Küker, Carsten Lukas, Maria A. Rocca, Nicola De Stefano, Ahmed Toosy, Tarek Yousry, Jacqueline Palace

Research output: Contribution to journalArticlepeer-review


Background Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction. Objective The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON. Methods A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed. Results All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a signi ficantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3). Conclusions A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female in fluence on the radiological appearance as well as clinical development of MS in patients with LHON.

Original languageEnglish
Pages (from-to)537-542
Number of pages6
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number5
Publication statusPublished - May 1 2015

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery
  • Arts and Humanities (miscellaneous)


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