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Lookup NU author(s): Dr Angela Pyle, Professor Hanns Lochmuller, Professor Rita HorvathORCiD
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We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO!) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for c.472insC in TACO1. All 5 patients had an uneventful early childhood and a subtle onset, slowly progressive cognitive dysfunction, dystonia Or visual impairment between ages 4 and 16 years. Affected girls had a milder phenotype and preserved ambulation into the late twenties. Brain MRI revealed bilateral, symmetric lesions of the basal ganglia in all affected family members, but less prominent in girls. TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome. (C) 2010 Elsevier B.V. All rights reserved.
Author(s): Seeger J, Schrank B, Pyle A, Stucka R, Lorcher U, Muller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmuller H, Horvath R
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2010
Volume: 20
Issue: 11
Pages: 720-724
Print publication date: 19/08/2010
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.nmd.2010.06.017
DOI: 10.1016/j.nmd.2010.06.017
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