Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Nikoskelainen, Eeva; Marttila, Reijo J.; Huoponen, Kirsi; Juvonen, Vesa; Lamminen, Tarja; Sonninen, Pirkko; Savontaus, Marja Liisa

doi:10.1136/jnnp.59.2.160

Cited by 222 publications

(131 citation statements)

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“…[37][38][39][40][41] Minor neurologic abnormalities, such as exaggerated or pathologic reflexes, mild cerebellar ataxia, tremor, movement disorders, myoclonus, seizures, muscle wasting, distal sensory neuropathy, motor neuropathy, and migraine, have been reported in patients with LHON. 6,42,43 Less commonly, pedigrees have been described in which multiple maternal members demonstrate the clinical features of LHON in addition to more severe neurologic abnormalities. We have termed these pedigrees 'Leber's Plus'.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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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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Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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“…The prevalence of LHON is estimated at 1/50,000 and, like ADOA, the disease is associated with incomplete penetrance and variable expressivity. In addition to optic atrophy, some patients affected with LHON may have other neurological symptoms related to lesions of the white matter of the central nervous system (Nikoskelainen et al, 1995). More than 95% of the patients carry one of the three primary LHON-causing mtDNA mutations at nucleotide positions 11778, 3460 and 14484 in genes encoding subunits of the respiratory chain complex I. Incidentally, these mutations have been shown to seriously impair ATP synthesis, which depends on complex I activity, in transmitochondrial cybrid models (Carelli et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

et al. 2009

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ABSTRACT:We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had OFFICIAL JOURNAL www.hgvs.org E693 Molecular Screening of 980 Cases of Suspected Hereditary Optic Neuropathyan OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease.

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“…There were few cases of LHON plus syndrome in literature, one of the first reports of presentation of LHON and the other neurological symptoms was in 1995 by Nikoskelainen EK (6). In this study, the authors introduce patients with LHON with some different movement disorders (dystonia and parkinsonism and MS-like presentations).…”

Section: Discussionmentioning

confidence: 98%

Leber Hereditary Optic Neuropathy Plus: A Case Report and Review of Literatures

Dorche¹,

Khalili²,

Nomovi³

et al. 2017

IMMINV

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Background: Leber hereditary optic neuropathy (LHON) is an inherited visual loss and optic atrophy due to mitochondrial mutation. Most of these patients had not any other neurological signs and symptoms more than a visual loss. In a small group of the patients, other neurological manifestations may be occurs. This rare presentation of the disease was named " LHON plus syndromes." Case Presentation: A 15-year-old boy who was completely healthy until age 9, when he gradually developed painless visual loss in his right eye. After 3 months, similar symptoms occurred in his left eye. Within next 2 years, psychomotor regression happened, and at age 11, very intractable seizures were started. According to physical examination and past medical history, LHON plus syndrome was diagnosed for him. Management of seizure and other symptomatic treatments were started, and there was a weak response to drugs. Conclusion: Early diagnosis and ruling out treatable conditions are critical points in these patients.

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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Abstract: Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The

Cited by 222 publications

References 32 publications

Hereditary optic neuropathies

Hereditary optic neuropathies

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

Leber Hereditary Optic Neuropathy Plus: A Case Report and Review of Literatures

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