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Lookup NU author(s): Dr Yi NgORCiD, Dr Mika Martikainen, Professor Grainne Gorman, Dr Alasdair Blain, Dr Andrew Schaefer, Dr Charlotte Alston, Dr Albert Lim, Professor Patrick Chinnery, Professor Rita HorvathORCiD, Dr Victoria Nesbitt, Professor Michael Hanna, Dr Robert Pitceathly, Professor Robert Taylor, Emeritus Professor Doug Turnbull, Professor Bobby McFarlandORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2019 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.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 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that MT-ATP6–related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. ANN NEUROL 2019.
Author(s): Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
Year: 2019
Volume: 86
Issue: 2
Pages: 310-315
Print publication date: 01/08/2019
Online publication date: 11/06/2019
Acceptance date: 07/06/2019
Date deposited: 16/07/2019
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: John Wiley and Sons Inc.
URL: https://doi.org/10.1002/ana.25525
DOI: 10.1002/ana.25525
PubMed id: 31187502
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