Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

Palace, Jacqueline

doi:10.1016/j.jns.2009.09.009

Cited by 68 publications

(57 citation statements)

References 38 publications

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“…Although not typically misdiagnosed as PPMS, mitochondrial cytopathies including MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like syndrome), MERRF (myoclonus, epilepsy, and ragged red fibers), Kears-Sayres syndrome, Leber's hereditary optic neuropathy (LHON), and Leigh syndrome (subacute necrotizing encephalomyelopathy), share some clinical and radiographic features with MS and clinical overlap with MS has been reported (Lees et al, 1964;Franks and Sanders, 1990;Harding et al, 1992;KellarWood et al, 1994;Taylor et al, 1998;Kuker et al, 2007;Palace, 2009 …”

Section: Mitochondrial Cytopathiesmentioning

confidence: 99%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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Section: Mitochondrial Cytopathiesmentioning

confidence: 99%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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“…Finally, even mitochondrial mutations may be associated with an MS-like picture. Harding's disease is an association between Leber's Herediatry Optic Neuropathy (LHON) and MS (or at least an MS-like disease) 66 . In this disorder, the optic neuropathy of LHON is followed by often typical clinical and radiological features of RRMS.…”

Section: Le Journal Canadien Des Sciences Neurologiquesmentioning

confidence: 99%

Multiple Sclerosis: Autoimmune Disease or Autoimmune Reaction?

Stys

2010

Can. J. Neurol. Sci.

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Multiple sclerosis (MS) is traditionally considered to be a prototypical autoimmune inflammatory disease of the central nervous system, with a primary immune assault aimed at central myelin and the oligodendrocyte [1][2][3][4][5][6] . In recent years, in addition to the well described inflammatory demyelinating pathology observed in this disease, progressive axonal degeneration has come to attention as an additional important component that leads to permanent and progressive clinical disability [7][8][9] . Moreover, at least in the early phases, inflammation plays a prominent role and contributes to tissue destruction. While the histopathological changes in the brain and spinal cord white matter of MS patients have been described for over a century 10,11 , more recently it is becoming apparent that gray matter structures, both cortical and deep, are involved as well [12][13][14][15] . After decades of ABSTRACT: Multiple sclerosis (MS) is traditionally considered an autoimmune inflammatory demyelinating disease of the central nervous system (CNS) with much knowledge available to support this view. However, this characterization implies that the primary event is an aberrant immune response directed at CNS antigens, promoting inflammation and later driving progressive axo-glial degeneration. Trials with potent anti-inflammatory agents and detailed neuropathological studies raise questions about this sequence of events. This hypothetical paper argues that MS may be primarily a "cytodegenerative" disease, possibly first involving the oligodendrocyte/myelin unit. Liberation of autoantigens secondarily recruits an immune response, the force of which heavily depends on the host's immune predisposition. Thus, the spectrum of MS from highly aggressive Marburg type, to primary progressive disease with little inflammatory burden, is governed by a "convolution" between the underlying cytodegeneration and the host's immune predilection. Clinical heterogeneity may be a reflection of a variable immune response, whereas in reality, the "real MS" may be a homogeneous degenerative process analogous to well known primary neurodegenerative diseases.RÉSUMÉ: La sclérose en plaques, une maladie auto-immune ou une réaction auto-immune? La sclérose en plaques (SP) est considérée traditionnellement comme une maladie démyélinisante inflammatoire auto-immune du système nerveux central (SNC), une notion bien étayée par de vastes connaissances. Cependant, cette interprétation implique que l'événement primaire est une réponse immunitaire aberrante dirigée contre des antigènes du SNC, qui favorise l'inflammation et subséquemment la dégénérescence axo-gliale progressive. Des essais au moyen d'agents anti-inflammatoires puissants et des études neuropathologiques détaillées soulèvent des questions au sujet de cette succession d'événements. Dans cet article, nous émettons l'hypothèse que la SP puisse être principalement une maladie "cytodégénérative", impliquant possiblement au départ l'unité oligodendrocyte/myéline. La libération d'auto-antigènes ...

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“…Additionally, a quantitative MRI study of patients with LHON found abnormalities of the normal-appearing brain tissue consistent with that previously reported in MS. A hypothesis as to why LHON may be a risk factor for MS is that mitochondrial defects trigger the autoimmune process. A further possibility is that mitochondrial dysfunction is a final common pathway in neural damage [14].…”

Section: Discussionmentioning

confidence: 99%

Leber’s hereditary optic neuropathy - Case report

Iorga

Mihailovici

Costin

2018

rjo

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Leber's hereditary optic neuropathy is the most common mitochondrial condition and is characterized by bilateral, painless, subacute visual loss that develops during young adult life. LHON is a rare condition and this lack of knowledge can make doctors suspect and treat for other causes of vision loss. Typically, a series of tests are performed to confirm LHON diagnosis or exclude any other conditions. We presented the case of two brothers, HB, of 40 years old and HF, of 38 years old, who presented with a decrease in visual acuity in both eyes. The patients had been diagnosed with optic atrophy of unknown cause a long time ago, but no further investigations were made. They were treated with corticosteroids, antioxidants and vasodilators, but with no significant benefit. A blood test of the mitochondrial DNA, a magnetic resonance imaging and an optic coherence tomography of the optic nerve and macula were part of the following assessment of our patients. The mitochondrial DNA analyses revealed the 3460 G>A mutation on the mtND1 gene in both patients. Based on the medical history, the fundus aspect, the optic coherence tomography and the paraclinical investigations of the diagnosis of Leber's hereditary optic neuropathy were established in both patients. We started the treatment with idebenone and we evaluated the patients after three months. Keywords: Leber's hereditary optic neuropathy, mitochondrial DNA test, optic coherence tomography, idebenone Abbreviations: LHON = Leber's hereditary optic neuropathy, mtDNA = mitochondrial DNA, VA = visual acuity, CF = count fingers, OCT = optical coherence tomography, RNFL = retinal nerve fiber layer, GCL = ganglion cells layer, MS = multiple sclerosis, MRI = magnetic resonance imaging, MTI = magnetization transfer imaging, MTR = magnetization transfer ratio

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Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

Cited by 68 publications

References 38 publications

Genetics of primary progressive multiple sclerosis

Genetics of primary progressive multiple sclerosis

Multiple Sclerosis: Autoimmune Disease or Autoimmune Reaction?

Leber’s hereditary optic neuropathy - Case report

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