Fixation-sensitive myoclonus in Lafora disease

Kumada, Satoko; Kubota, Masaya; Hayashi, Masaharu; Uchiyama, Akira; Kurata, Kouichi; Kagamihara, Yasuhiro

doi:10.1212/01.wnl.0000216147.12172.39

Cited by 14 publications

(12 citation statements)

References 7 publications

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Section: Resultsmentioning

confidence: 99%

“…LD is an autosomal recessive disorder with onset in late childhood and is characterized by the presence of intracellular polyglucosan inclusions, called Lafora bodies, in the brain, liver, and skin. 37 Mutations of the EPM2A and NHLRC1 genes have been demonstrated in LD patients. The former gene product laforin is a dual-specific phosphatase, which dephosphorylates complex carbohydrates, while the latter gene product malin is an E3 ubiquitin ligase.…”

Section: Progressive Myoclonic Epilepsy (Pme)mentioning

confidence: 99%

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Oxidative stress in developmental brain disorders

Hayashi

2009

Neuropathology

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Oxidative stress is one of the predisposing factors in adult neurological disorders. We have examined the involvement of oxidative stress in child-onset neurodegenerative disorders, and here we review the findings from our analysis. In cases of Cockayne syndrome, the oxidative products of lipids and proteins were increased in the globus pallidus; however, oxidative nucleotide damage that coincided with reduced copper/zinc superoxide dismutase (Cu/ZnSOD) expression was observed in cases of xeroderma pigmentosum, and these patients also presented increased oxidative stress markers in urine samples. In spinal muscular atrophy, lipid peroxidation in conjunction with oxidative DNA damage was observed in motor neurons. Cases of subacute sclerosing panencephalitis presented oxidative nucleoside damage in cerebral cortical neurons at early disease stages, which were subsequently replaced by lipid peroxidation in glial cells of cerebral white matter. In relation to progressive myoclonic epilepsy, oxidative damage to DNA, proteins, and lipids appeared to coincide with cerebral and cerebellar cortical lesions of neuronal ceroidlipofuscinosis. Patients with Lafora disease also presented an increase in oxidative stress markers for DNA and/or lipids in the brain and urine. These findings imply involvement of oxidative stress in developmental brain disorders; antioxidant agents could prove to be useful for treating patients with those disorders.

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Section: Resultsmentioning

confidence: 99%

Section: Progressive Myoclonic Epilepsy (Pme)mentioning

confidence: 99%

Oxidative stress in developmental brain disorders

Hayashi

2009

Neuropathology

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“…Alcoholic drinks can be beneficial in small quantities, especially on social occasions. If photosensitivity persists despite AEDs, avoidance of bright lights and striped patterns as well as use of dark glasses can be helpful [80]. Supportive and rehabilitative measures towards specific disabilities of PMEs, as well as social and psychological support, are paramount.…”

Section: Resultsmentioning

confidence: 99%

Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies

Ferlazzo

Trenité²,

Haan

et al. 2018

CPD

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Background Progressive myoclonus epilepsies (PMEs) are a group of rare inherited diseases featuring a combination of myoclonus, seizures and variable degree of cognitive impairment. Despite extensive investigations, a large number of PMEs remain undiagnosed. In this review, we focus on the current pharmacological approach to PMEs. Methods References were mainly identified through PubMed search until February 2017 and backtracking of references in pertinent studies. Results The majority of available data on the efficacy of antiepileptic medications in PMEs are primarily anecdotal or observational, based on individual responses in small series. Valproic acid is the drug of choice, except for PMEs due to mitochondrial diseases. Levetiracetam and clonazepam should be considered as the first add-on treatment. Zonisamide and perampanel represent promising alternatives. Phenobarbital and primidone should be reserved to patients with resistant disabling myoclonus or seizures. Lamotrigine should be used with caution due to its unpredictable effect on myoclonus. Avoidance of drugs known to aggravate myoclonus and seizures, such as carbamazepine and phenytoin, is paramount. Psychiatric (in particular depression) and other comorbidities need to be adequately managed. Although a 3- to 4-drug regimen is often necessary to control seizures and myoclonus, particular care should be paid to avoid excessive pharmacological load and neurotoxic side effects. Target therapy is possible only for a minority of PMEs. Conclusions Overall, the treatment of PMEs remains symptomatic (i.e. pharmacological treatment of seizures and myoclonus). Further dissection of the genetic background of the different PMEs might hopefully help in the future with individualised treatment options.

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“…31 Fixation-sensitive myoclonus (myoclonus suppressed by passive eye closure) is another feature. 32 The disease becomes rapidly progressive leading to dementia, intractable epilepsy, and death within the decade following the first symptom.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Progressive Myoclonus Epilepsy with Adolescent Onset: Clinical Features and Diagnosis

Luat

2015

J Pediatr Epilepsy

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Many of the progressive epilepsy syndromes with adolescent onset are classified as progressive myoclonus epilepsies. It is a heterogenous group of epilepsy syndromes associated with seizure, myoclonus, and progressive neurologic decline. This review focuses on the different adolescent-onset progressive myoclonus epilepsies including Unverricht?Lundborg disease, Lafora disease, juvenile-onset neuronal ceroid lipofuscinosis, sialidosis (cherry-red spot myoclonus), dentatorubral?pallidoluysian atrophy, and myoclonic epilepsy and ragged-red fibers. Their clinical presentations, neurophysiologic and neuroimaging findings, genetics, pathology, and diagnosis are discussed.

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Fixation-sensitive myoclonus in Lafora disease

Cited by 14 publications

References 7 publications

Oxidative stress in developmental brain disorders

Oxidative stress in developmental brain disorders

Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies

Progressive Myoclonus Epilepsy with Adolescent Onset: Clinical Features and Diagnosis

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