White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation

Lev, Dorit; Yanoov-Sharav, Miri; Watemberg, Nathan; Leshinsky‐Silver, Esther; Lerman‐Sagie, Tally

doi:10.1053/ejpn.2001.0558

Cited by 31 publications

(24 citation statements)

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“…Occasionally, cyst-like lesions occur within abnormal white matter 14 . White matter lesions have been described in patients with MELAS 15 , LS [16][17][18][19] , LHON 20,21 , KSS 21 , MNGIE 12 , or non-syndromic MCD 22,23 . Also the chronic stage of stroke-like-lesions (SLL) or endstages of cytotoxic edema may manifest as white matter lesions.…”

Section: Demyelination White Matter Lesionsmentioning

confidence: 99%

Central Nervous System Imaging in Mitochondrial Disorders

Finsterer

2009

Can. j. neurol. sci.

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Imaging of central-nervous-system (CNS) abnormalities is important in patients with mitochondrial disorders (MCDs) since the CNS is the organ second most frequently affected in MCDs and some of them are potentially treatable. Clinically relevant imaging techniques for visualization of CNS abnormalities in MCDs are computed tomography, magnetic resonance imaging, and MR-spectroscopy. The CNS abnormalities in MCDs visualized by imaging techniques include stroke-like lesions with cytotoxic or vasogenic edema, laminar cortical necrosis, basal ganglia necrosis, focal or diffuse white matter lesions, focal or diffuse atrophy, intra-cerebral calcifications, cysts, lacunas, hypometabolisation, lactacidosis, hemorrhages, cerebral hypo- or hyperperfusion, intra-cerebral artery stenoses, or moyamoya syndrome. The CNS lesions may proceed with or without clinical manifestations, why neuroimaging should be routinely carried out in all MCDs to assess the degree of CNS involvement. Some of these lesions may remain unchanged for years, some may show contiguous spread and progression, but some may even disappear, spontaneously or in response to medication. Dynamics of Stroke-like lesions may be positively influenced by L-arginine, dichloracetate, steroids, edavarone, or antiepileptics. Symptomatic treatment of CNS abnormalities in MCD patients may positively influence their outcome.

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Section: Demyelination White Matter Lesionsmentioning

confidence: 99%

Central Nervous System Imaging in Mitochondrial Disorders

Finsterer

2009

Can. j. neurol. sci.

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“…One boy with LHON-visual loss but no symptoms or signs suggestive of demyelinating disease was found to have extensive T2-hyperintense periventricular white matter changes. 60 Two LHON patients were reported with distended optic nerve sheaths on orbital ultrasonography, CT scanning, and MR imaging. 61,62 MR imaging of the optic nerves of symptomatic LHON patients typically reveals normal nerves in the acute phase of visual loss, often followed by high T2 signals in the intraorbital portions of the nerves after several months.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

153

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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“…12 Conversely, case reports exist of white matter changes in patients with primary LHON mutations. 13,14 To date, primary or secondary LHON mutations have not been found in children with MS, 15,16 or children with MS and severe optic neuropathy. 17 These data, although mixed, raise the possibility of a role for mtDNA mutations in MS.…”

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confidence: 99%

Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination

Venkateswaran

Zheng²,

Sacchetti³

et al. 2011

Neurology

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Objective: We investigated mitochondrial DNA (mtDNA) variants in children with a first episode of acquired demyelinating syndromes (PD-ADS) of the CNS and their relationship to disease phenotype, including subsequent diagnosis of multiple sclerosis (MS).Methods: This exploratory analysis included the initial 213 children with PD-ADS in the prospective Canadian Pediatric Demyelinating Study and 166 matched healthy sibling controls from the Canadian Autism Genome Project. A total of 31 single nucleotide polymorphisms (SNPs) were analyzed, including haplogroup-defining SNPs and mtDNA variants previously reported to be associated with MS. Results: Primary Leber hereditary optic neuropathy (LHON) mutations and other known patho-genic mtDNA mutations were absent in both patients with pediatric acquired demyelinating syndromes and controls. The 13708A haplogroup J-associated variant, previously linked to adult MS, was more frequent among subjects with PD-ADS (13.0%) compared to controls (6.2%; odds ratio [OR] 2.27; 95% confidence interval [CI] 1.06 to 4.83) and haplogroup M was associated with an earlier age at onset of PD-ADS (Ϫ1.74 years; 95% CI Ϫ3.33 to Ϫ0.07). In contrast, the haplogroup cluster UKJT, as well as 3 other SNPs, were each associated with a lower risk of PD-ADS. A total of 33 subjects with PD-ADS were diagnosed with MS during a mean follow-up period of 3.11 Ϯ 1.14 (SD) years. No single SNP was associated with the risk of subsequent diagnosis of MS. However, haplogroup H was associated with an increased risk of MS (OR 2.60; 95% CI 1.21 to 5.55). Conclusion:These data suggest an association between mtDNA variants and the risk of PD-ADS and of a subsequent MS diagnosis. Replication of these findings in an independent population of subjects with PD-ADS is required. Neurology ® 2011;76:774-780 GLOSSARY ADEM ϭ acute disseminated encephalomyelitis; ADS ϭ acquired demyelinating syndrome; CI ϭ confidence interval; LHON ϭ Leber hereditary optic neuropathy; MS ϭ multiple sclerosis; mtDNA ϭ mitochondrial DNA; OR ϭ odds ratio; PD-ADS ϭ first episode of acquired demyelinating syndrome; SNP ϭ single nucleotide polymorphism.

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White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation

Cited by 31 publications

References 0 publications

Central Nervous System Imaging in Mitochondrial Disorders

Central Nervous System Imaging in Mitochondrial Disorders

Hereditary optic neuropathies

Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination

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