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Multiple sclerosis
Research paper
MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis
  1. Lucy Matthews1,2,
  2. Christian Enzinger3,4,
  3. Franz Fazekas3,
  4. Alex Rovira5,
  5. Olga Ciccarelli6,
  6. Maria Teresa Dotti7,
  7. Massimo Filippi8,
  8. Jette L Frederiksen9,
  9. Antonio Giorgio7,
  10. Wilhelm Küker1,2,
  11. Carsten Lukas10,
  12. Maria A Rocca8,
  13. Nicola De Stefano7,
  14. Ahmed Toosy6,
  15. Tarek Yousry6,
  16. Jacqueline Palace1,2,
  17. On behalf of the MAGNIMS network
  1. 1Oxford University Hospitals NHS Trust, Oxford, UK
  2. 2Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK
  3. 3Department of Neurology, Medical University of Graz, Graz, Austria
  4. 4Department of Radiology, Division of Neuroradiology, Medical University of Graz, Graz, Austria
  5. 5Department of Radiology, Hospital Vall d'Hebron, Barcelona, Spain
  6. 6UCL Institute of Neurology, London, UK
  7. 7Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
  8. 8Neuroimaging Research Unit and Department of Neurology, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy
  9. 9Department of Neurology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark
  10. 10Department of Radiology, St. Josef Hospital Ruhr-University, Bochum, Germany
  1. Correspondence to Dr Jacqueline Palace, Department of Neurology, Nuffield Department of Clinical Neurosciences, Oxford University Hospitals NHS Trust, University of Oxford, Level 3 John Radcliffe Hospital, Oxford, OX3 9DU, UK; jacqueline.palace{at}ndcn.ox.ac.uk

Abstract

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 significantly 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 influence on the radiological appearance as well as clinical development of MS in patients with LHON.

  • Leber Heredit Optic Atropy
  • MRI
  • Multiple Sclerosis
  • Neurogenetics

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/jnnp-2014-308186

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