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

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...

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Veröffentlicht in:Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Jg. 123; H. 7. Vyp. 2; S. 122
Hauptverfasser: Eliseeva, D D, Kalashnikova, A K, Bryukhov, V V, Andreeva, N A, Zhorzholadze, N V, Murakhovskaya, Yu K, Krilova, T D, Tsygankova, P G, Zakharova, M N, Sheremet, N L
Format: Journal Article
Sprache:Englisch
Russisch
Veröffentlicht: Russia (Federation) 2023
Schlagworte:
Autoantibodies
Central Nervous System
DNA, Mitochondrial - genetics
Humans
Multiple Sclerosis - complications
Multiple Sclerosis - genetics
Optic Atrophy, Hereditary, Leber - complications
Optic Atrophy, Hereditary, Leber - diagnosis
Optic Atrophy, Hereditary, Leber - genetics
Optic Nerve Diseases - complications
Optic Neuritis - etiology
Optic Neuritis - genetics
antibodies to aquaporin-4
autosomal recessive optic neuropathy
mitochondrial diseases
antibodies to myelin oligodendrocyte glycoprotein
multiple sclerosis
Leber’s hereditary optic neuropathy
DNAJC30 gene
demyelinating diseases
ISSN:1997-7298
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Zusammenfassung: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 . 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.
Bibliographie:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ISSN:1997-7298
DOI:10.17116/jnevro2023123072122