Multi-system neurological disease is common in patients with OPA1 mutations

  title={Multi-system neurological disease is common in patients with OPA1 mutations},
  author={Patrick Yu-Wai-Man and P. G. Griffiths and Gr{\'a}inne S. Gorman and C M Lourenço and A F Wright and Michaela Auer-Grumbach and Ant{\'o}nio Toscano and Olimpia Musumeci and M L Valentino and Leonardo Caporali and Costanza Lamperti and C Tallaksen and Philip Duffey and James A. L. Miller and R G Whittaker and M. R. Baker and Malcolm J. Jackson and M P Clarke and Baljean Dhillon and Birgit Czermin and J. Mc D. Stewart and Gavin Hudson and Pascal Reynier and D. Bonneau and Wilson Junior Marques and Guy Lenaers and Robert McFarland and R. W. Taylor and D M Turnbull and Marcela Votruba and Massimo Zeviani and V Carelli and L. A. Bindoff and Rita Horvath and Patrizia Amati-Bonneau and Patrick F. Chinnery},
  booktitle={Brain : a journal of neurology},
Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common… CONTINUE READING
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