MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis

Carré, F.; Hervochon, Rémi; Foirest, Claire; Tankéré, F.

doi:10.1016/j.anorl.2018.10.015

Cited by 11 publications

(5 citation statements)

References 5 publications

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“…The prevalence of MERRF syndrome is 0.9:100,000 in Europe. 11 Besides the canonical features, dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, and multiple lipomas can also be seen. 12 The onset of clinical features can occur in infancy, childhood, or adolescence.…”

Section: Discussionmentioning

confidence: 99%

Multiple symmetric lipomatosis and MERRF: A case from Turkey

Alpaydin Baslo,

Tekin,

Gundogdu Unverengil

et al. 2023

NeuroAsia

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The association of multiple symmetric lipomatosis (MSL) and mitochondrial disorders is not frequent. We report a male patient with multiple lipomas, hearing loss, progressive limb-girdle muscle weakness, neuropathy and myoclonia. Serum creatinine kinase was mildly elevated. Electromyography revealed sensory axonal polyneuropathy and myopathy with sparse denervation. A muscle biopsy showed ragged-red fibers. Next-generation DNA sequencing revealed a heteroplasmic m.8344A>G mutation in the MT-TK gene. To the best of our knowledge, this is the first patient to be reported from Turkey with a diagnosis of MSL and myoclonic epilepsy with ragged red fibers (MERRF).

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Section: Discussionmentioning

confidence: 99%

Multiple symmetric lipomatosis and MERRF: A case from Turkey

Alpaydin Baslo,

Tekin,

Gundogdu Unverengil

et al. 2023

NeuroAsia

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“…The phenotypic spectrum of MERRF, like many of the mitochondrial encephalomyopathies, is quite varied, as many different tissue types may be involved. In addition to the presentation of PME and weakness, there are reports of symmetrical lipomatosis, including cervical lipomatosis [99], spinocerebellar-like ataxia, severe Leigh syndrome, sensorineural deafness, myopathy, optic atrophy, and chronic progressive external ophthalmoplegia (CPEO) [100]. The mutational spectrum of MERRF continues to expand [101].…”

Section: Diagnostic and Phenotypic Advancesmentioning

confidence: 99%

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Zimmern,

Minassian

2024

Genes

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The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.

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“…Іноді сенсорні та неврологічні розлади проявляються набагато раніше, ніж виникають епілептичні напади, атаксія та деменція. Характерна поява ліпом [3].…”

Section: мітохондріопатії синдром Merrf (міоклонус-епілепсія та рваніunclassified

“…Патогномонічною ознакою при дослідженні гістологічного зразка є наявність червоних рваних волокон (фарбування за методом Гоморі). Найбільш точною та специфічною є генетична мтДНК діагностика, яка визначає мутацію відповідних генів [3], [4].…”

Section: мітохондріопатії синдром Merrf (міоклонус-епілепсія та рваніunclassified

Мітохондріопатії. Синдром Merrf (Міоклонус-Епілепсія Та Рвані Червоні М’язові Волокна)

Качур,

Запорожцева

2023

Theoretical and Practical Aspects of Modern Scientific Research

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MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis

Cited by 11 publications

References 5 publications

Multiple symmetric lipomatosis and MERRF: A case from Turkey

Multiple symmetric lipomatosis and MERRF: A case from Turkey

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Мітохондріопатії. Синдром Merrf (Міоклонус-Епілепсія Та Рвані Червоні М’язові Волокна)

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