title: MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis.
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.
authors: Oxford University Hospitals NHS Trust, Oxford, UK Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK.
authors: Lucy
authors: L
authors: Matthews
authors: Department of Neurology, Medical University of Graz, Graz, Austria Department of Radiology, Division of Neuroradiology, Medical University of Graz, Graz, Austria.
authors: Christian
authors: C
authors: Enzinger
authors: Department of Neurology, Medical University of Graz, Graz, Austria.
authors: Franz
authors: F
authors: Fazekas
authors: Department of Radiology, Hospital Vall d'Hebron, Barcelona, Spain.
authors: Alex
authors: A
authors: Rovira
authors: UCL Institute of Neurology, London, UK.
authors: Olga
authors: O
authors: Ciccarelli
authors: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors: Maria Teresa
authors: MT
authors: Dotti
authors: Neuroimaging Research Unit and Department of Neurology, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
authors: Massimo
authors: M
authors: Filippi
authors: Department of Neurology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark.
authors: Jette L
authors: JL
authors: Frederiksen
authors: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors: Antonio
authors: A
authors: Giorgio
authors: Oxford University Hospitals NHS Trust, Oxford, UK Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK.
authors: Wilhelm
authors: W
authors: Küker
authors: Department of Radiology, St. Josef Hospital Ruhr-University, Bochum, Germany.
authors: Carsten
authors: C
authors: Lukas
authors: Neuroimaging Research Unit and Department of Neurology, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
authors: Maria A
authors: MA
authors: Rocca
authors: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors: Nicola
authors: N
authors: De Stefano
authors: UCL Institute of Neurology, London, UK.
authors: Ahmed
authors: A
authors: Toosy
authors: UCL Institute of Neurology, London, UK.
authors: Tarek
authors: T
authors: Yousry
authors: Oxford University Hospitals NHS Trust, Oxford, UK Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK.
authors: Jacqueline
authors: J
authors: Palace
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000150:complications / Q000473:pathology*; D059906:Neuroimaging; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000473:pathology*; D012737:Sex Factors; D016037:Single-Blind Method; D066127:White Matter / Q000473:pathology*; D055815:Young Adult
keywords: Leber Heredit Optic Atropy; MRI; Multiple Sclerosis; Neurogenetics