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 language | English |
|---|---|
| Pages (from-to) | 6-11 |
| Number of pages | 6 |
| Journal | Journal of Neuro-Ophthalmology |
| Volume | 31 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 2011 |
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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 journal › Article
}
TY - JOUR
T1 - Axonal degeneration in peripheral nerves in a case of leber hereditary optic neuropathy
AU - Mnatsakanyan, Lilit
AU - Ross-Cisneros, Fred N.
AU - Carelli, Valerio
AU - Wang, Michelle Y.
AU - Sadun, Alfredo A.
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
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U2 - 10.1097/WNO.0b013e3181fab1b4
DO - 10.1097/WNO.0b013e3181fab1b4
M3 - Article
VL - 31
SP - 6
EP - 11
JO - Journal of Neuro-Ophthalmology
JF - Journal of Neuro-Ophthalmology
SN - 1070-8022
IS - 1
ER -