Menezes, MP;
Rahman, S;
Bhattacharya, K;
Clark, D;
Christodoulou, J;
Ellaway, C;
Farrar, M;
... Ouvrier, R; + view all
(2016)
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Mitochondrion
, 30
pp. 162-167.
10.1016/j.mito.2016.07.014.
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Abstract
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features. Identification of the underlying neuropathy may assist syndrome classification, targeted genetic testing and rehabilitative interventions. METHODS: Clinical data and the results of nerve conduction studies were obtained retrospectively from the records of four tertiary children's hospital metabolic disease, neuromuscular or neurophysiology services. Nerve conductions studies were also performed prospectively on children attending a tertiary metabolic disease service. Results were classified and analysed according to the underlying genetic cause. RESULTS: Nerve conduction studies from 27 children with mitochondrial disease were included in the study (mitochondrial DNA (mtDNA) – 7, POLG – 7, SURF1 – 10, PDHc deficiency – 3). Four children with mtDNA mutations had a normal study while three had mild abnormalities in the form of an axonal sensorimotor neuropathy when not acutely unwell. One child with MELAS had a severe acute axonal motor neuropathy during an acute stroke-like episode that resolved over 12 months. Five children with POLG mutations and disease onset beyond infancy had a sensory ataxic neuropathy with an onset in the second decade of life, while the two infants with POLG mutations had a demyelinating neuropathy. Seven of the 10 children with SURF1 mutations had a demyelinating neuropathy. All three children with PDHc deficiency had an axonal sensorimotor neuropathy. Unlike CMT, the neuropathy associated with mitochondrial disease was not length-dependent. CONCLUSIONS: This is the largest study to date of peripheral neuropathy in genetically- classified childhood mitochondrial disease. Characterising the underlying neuropathy may assist with the diagnosis of the mitochondrial syndrome and should be an integral part of the assessment of children with suspected mitochondrial disease.
| Type: | Article |
|---|---|
| Title: | Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.mito.2016.07.014 |
| Publisher version: | http://doi.org/10.1016/j.mito.2016.07.014 |
| Language: | English |
| Additional information: | © 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved. This manuscript version is made available under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International license (CC BY-NC-ND 4.0). This license allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licenses are available at http://creativecommons.org/ licenses/by/4.0. Access may be initially restricted by the publisher. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Cell Biology, Genetics & Heredity, Mitochondrial disease, Childhood, Neuropathy, Demyelinating, Mitochondrial DNA, MARIE-TOOTH-DISEASE, PYRUVATE-DEHYDROGENASE DEFICIENCY, LEIGH-SYNDROME, NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY, SENSORY NEUROPATHY, NERVE-CONDUCTION, SURF1 DEFICIENCY, LACTIC-ACIDOSIS, MITOFUSIN 2, MUTATIONS |
| 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 Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1508000 |
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