Ng, YS;
Martikainen, MH;
Gorman, GS;
Blain, A;
Bugiardini, E;
Bunting, A;
Schaefer, AM;
... McFarland, R; + view all
(2019)
Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study.
Annals of Neurology
, 86
(2)
pp. 310-315.
10.1002/ana.25525.
Preview |
Text
Ng_et_al-2019-Annals_of_Neurology (2).pdf Download (450kB) | Preview |
Abstract
Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and seven with Neuropathy Ataxia Retinitis Pigmentosa. The remaining 50 patients presented with variable non-syndromic features including ataxia, neuropathy and learning disability. We confirmed maternal inheritance in 39 families, and demonstrated tissue segregation patterns and phenotypic threshold are variant-dependent. Our findings suggest that MT-ATP6-related mitochondrial disease is best conceptualised as a spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. This article is protected by copyright. All rights reserved.
| Type: | Article |
|---|---|
| Title: | Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ana.25525 |
| Publisher version: | http://doi.org/10.1002/ana.25525 |
| Language: | English |
| Additional information: | © 2019 The Authors. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Leigh syndrome, ataxia, heteroplasmy, neuropathy, risk prediction |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10076270 |
Archive Staff Only
 |
View Item |
