University of Oulu

Martikainen, M.H., Suomela, M. & Majamaa, K. Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report. BMC Neurol 22, 487 (2022).

Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy : a case report

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Author: Martikainen, Mika H.1,2,3; Suomela, Miika4; Majamaa, Kari5,6
Organizations: 1Clinical Neurosciences, Department of Clinical Medicine, University of Turku, Turku, Finland
2Neurocenter, Turku University Hospital, Turku, Finland
3Department of Neurology, Satasairaala Hospital, Pori, Finland
4Department of Clinical Neurophysiology, Turku University Hospital, Turku, Finland
5Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
6Neurocenter and Medical Research Center, Oulu University Hospital, Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 2 MB)
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Language: English
Published: Springer Nature, 2022
Publish Date: 2023-06-12


Background: Leber’s hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-ocular manifestations such as cardiac conduction abnormalities and neurological manifestations such as multiple sclerosis (MS) like disease or parkinsonism are encountered in some patients. Abnormal findings in spinal cord MR imaging or in the cerebrospinal fluid (CSF) have been observed in previous cases of LHON-associated myelopathy.

Case presentation: We report a male patient with LHON who developed symptoms of myelopathy including gait unsteadiness, enhanced deep tendon reflexes and sensory loss of the lower extremities. Imaging of the brain and spinal cord, CSF analysis, as well as neurography and electromyography did not disclose any abnormalities. The somatosensory evoked potential (SEP) findings were suggestive of dorsal column dysfunction.

Conclusions: The patient case demonstrates that myelopathy associated with LHON can present without abnormal findings in central nervous system MR imaging or in the CSF, and without evidence suggestive of multiple sclerosis or MS-like disease. The dorsal column seems to be particularly vulnerable to myelopathy changes in LHON. Evoked potential investigations may assist in confirming the diagnosis, when clinical features are in line with myelopathy but findings in CSF analysis and central nervous system imaging are normal.

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Series: BMC neurology
ISSN: 1471-2377
ISSN-E: 1471-2377
ISSN-L: 1471-2377
Volume: 22
Issue: 1
Article number: 487
DOI: 10.1186/s12883-022-03007-3
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: No funding was received for this study.
Copyright information: © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.