Journal article
Ethambutol toxicity exacerbating the phenotype of CMT2A2
Muscle & nerve, Vol.48(1), pp.140-144
07/2013
DOI: 10.1002/mus.23766
PMID: 23733358
Abstract
Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol-induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy.
Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol.
Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields.
Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol-induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects.
Details
- Title: Subtitle
- Ethambutol toxicity exacerbating the phenotype of CMT2A2
- Creators
- Ekokobe Fonkem - Harvard Medical School, Beth Israel Deaconess Medical Center, Massachusetts, Boston, USAMonica A Skordilis - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USAElaine M Binkley - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USADavid S Raymer - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USAAvrom EpsteinW. David Arnold - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USAJohn T Kissel - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USAVictoria H Lawson - Department of Neurology; Division of Neuromuscular Disease, The Ohio State University Medical Center, 395 W. 12th Avenue7th Floor, Ohio, 43210, Columbus, USA
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.48(1), pp.140-144
- Publisher
- Blackwell Publishing Ltd
- DOI
- 10.1002/mus.23766
- PMID
- 23733358
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 5
- Language
- English
- Date published
- 07/2013
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984101610202771
Metrics
22 Record Views