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Eliseeva D.D.

Research Center of Neurology

Kalashnikova A.K.

Sechenov First Moscow State Medical University

Bryukhov V.V.

Research Center of Neurology

Andreeva N.A.

Research Institute of Eye Diseases

Zhorzholadze N.V.

Research Institute of Eye Diseases

Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University

Krylova T.D.

Bochkov Research Centre for Medical Genetics

Tsygankova P.G.

Bochkov Research Center for Medical Genetics

Zakharova M.N.

Research Center of Neurology

Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system

Authors:

Eliseeva D.D., Kalashnikova A.K., Bryukhov V.V., Andreeva N.A., Zhorzholadze N.V., Murakhovskaya Yu.K., Krylova T.D., Tsygankova P.G., Zakharova M.N., Sheremet N.L.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7‑2): 122‑132

DOI: 10.17116/jnevro2023123072122

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Table of contents

HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH DEMYELINATING DISEASES OF THE CENTRAL NERVOUS SYSTEM
HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH DEMYELINATING DISEASES OF THE CENTRAL NERVOUS SYSTEM

To cite this article:

Eliseeva DD, Kalashnikova AK, Bryukhov VV, et al. . Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7‑2):122‑132. (In Russ.)
https://doi.org/10.17116/jnevro2023123072122

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
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Abstract:

Demyelinating optic neuritis and hereditary optic neuropathy (HON) take a leading place among the diseases, the leading clinical syndrome of which is bilateral optic neuropathy with a simultaneous or sequential significant decrease in visual acuity. Optic neuritis can occur at the onset or be one of the syndromes within multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD). HON are a group of neurodegenerative diseases, among which the most common variants are Leber’s hereditary optic neuropathy (LHON), associated with mitochondrial DNA (mtDNA) mutations, and autosomal recessive optic neuropathy (ARON), caused by nuclear DNA (nDNA) mutations in DNAJC30. There are phenotypes of LHON «plus», one of which is the association of HON and CNS demyelination in the same patient. In such cases, the diagnosis of each of these diseases causes significant difficulties, due to the fact that in some cases there are clinical and radiological coincidences between demyelinating and hereditary mitochondrial diseases.

Keywords:

mitochondrial diseases
Leber’s hereditary optic neuropathy
autosomal recessive optic neuropathy
DNAJC30 gene
demyelinating diseases
antibodies to aquaporin-4
antibodies to myelin oligodendrocyte glycoprotein
multiple sclerosis

Authors:

Eliseeva D.D.

Research Center of Neurology

Kalashnikova A.K.

Sechenov First Moscow State Medical University

Bryukhov V.V.

Research Center of Neurology

Andreeva N.A.

Research Institute of Eye Diseases

Zhorzholadze N.V.

Research Institute of Eye Diseases

Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University

Krylova T.D.

Bochkov Research Centre for Medical Genetics

Tsygankova P.G.

Bochkov Research Center for Medical Genetics

Zakharova M.N.

Research Center of Neurology

Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Received:

22.05.2023

Accepted:

02.06.2023

Close metadata

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