Article
Multi-system neurological disease is common in patients with OPA1 mutations.
Brain : a journal of neurology - 1 Mar 2010
Yu-Wai-Man P, Griffiths P G, Gorman G S, Lourenco C M, Wright A F, Auer-Grumbach M, Toscano A, Musumeci O, Valentino M L, Caporali L, Lamperti C, Tallaksen C M, Duffey P, Miller J, Whittaker R G, Baker M R, Jackson M J, Clarke M P, Dhillon B, Czermin B, Stewart J D, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor R W, Turnbull D M, Votruba M, Zeviani M, Carelli V, Bindoff L A, Horvath R, Amati-Bonneau P, Chinnery P F
Abstract excerpt
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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.