Axonal degeneration in peripheral nerves in a case of leber hereditary optic neuropathy

Lilit Mnatsakanyan, Fred N. Ross-Cisneros, Valerio Carelli, Michelle Y. Wang, Alfredo A. Sadun

Research output: Contribution to journalArticle

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Abstract

BACKGROUND: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) genetic disorder characterized by profound bilateral loss of central vision due to selective loss of retinal ganglion cells. Most patients with LHON do not have complaints related to the peripheral nervous system. We investigated possible qualitative and quantitative histological changes in the peripheral nerve of a patient with LHON as compared to normal controls. METHODS: Brachial plexus specimens were obtained at necropsy from a patient with LHON carrying the 3460/ND1 mtDNA mutation and age-matched controls without known history of neurological disease. The nerves were evaluated by light microscope coupled to a digital camera-based morphometric analysis and electron microscopy. RESULTS: Extensive axonal degeneration of the large heavily myelinated fibers was found in the brachial plexus from the patient with LHON. In LHON nerve fascicles, we counted over 10 times as many degenerated profiles as found in the control nerve fascicles. CONCLUSIONS: Microscopic examination of the brachial plexus in the patient with LHON clearly demonstrated a significant pattern of neurodegeneration. Our study suggests that peripheral neuropathy may be a subclinical feature associated with LHON.

Original languageEnglish
Pages (from-to)6-11
Number of pages6
JournalJournal of Neuro-Ophthalmology
Volume31
Issue number1
DOIs
Publication statusPublished - Mar 2011

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Leber's Hereditary Optic Atrophy
Peripheral Nerves
Brachial Plexus
Mitochondrial DNA
Inborn Genetic Diseases
Retinal Ganglion Cells
Peripheral Nervous System
Peripheral Nervous System Diseases
Optic Nerve
Electron Microscopy
Light
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Ophthalmology

Cite this

Axonal degeneration in peripheral nerves in a case of leber hereditary optic neuropathy. / Mnatsakanyan, Lilit; Ross-Cisneros, Fred N.; Carelli, Valerio; Wang, Michelle Y.; Sadun, Alfredo A.

In: Journal of Neuro-Ophthalmology, Vol. 31, No. 1, 03.2011, p. 6-11.

Research output: Contribution to journalArticle

Mnatsakanyan, Lilit ; Ross-Cisneros, Fred N. ; Carelli, Valerio ; Wang, Michelle Y. ; Sadun, Alfredo A. / Axonal degeneration in peripheral nerves in a case of leber hereditary optic neuropathy. In: Journal of Neuro-Ophthalmology. 2011 ; Vol. 31, No. 1. pp. 6-11.
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