Progressive myoclonic epilepsies

Uthman, Basim M.; Reichl, Andreas

doi:10.1007/s11940-002-0001-9

Cited by 19 publications

(10 citation statements)

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“…In most patients myoclonic jerks most probably result both from cortical and subcortical components of abnormal sensorimotor integration and hyperexcitability of the sensory and motor cortex (Manganotti et al, 2001). Established therapeutic approaches consider a variety of antiepileptic drugs (AEDs) including valproic acid (VPA), barbiturates, benzodiazepines, chloral hydrate, zonisamide (ZNS), topiramate (TPM), or levetiracetam (LEV), as well as piraceteam and even alcohol (Genton & Guerrini, 1990;Paulus et al, 1991;Pranzatelli & Tate, 2001;Uthman & Reichl, 2002;Conry, 2004;Crest et al, 2004;Aykutlu et al, 2005;Mancuso et al, 2006;Vossler et al, 2008). However, these drugs and other pharmacologic approaches usually fail to achieve a marked or permanent improvement (Conry, 2002).…”

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confidence: 99%

Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood-Report of five cases

et al. 2011

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SUMMARYPurpose: To assess the efficacy and tolerability of chronic high-frequency deep brain stimulation (DBS) in adult patients with progressive myoclonic epilepsy (PME) syndromes. Methods: Five adult patients (four male, 28-39 years) with PME underwent chronic high-frequency DBS according to a study protocol that had been approved by the local ethics committee. Electrodes were implanted in the substantia nigra pars reticulata (SNr)/subthalamic nucleus (STN) region in the first patient and additionally in the ventral intermediate nucleus (VIM) bilaterally in the following four cases. Follow-up took place in intervals of 3 months and DBS effects were compared with baseline frequency of passive and activation-induced myoclonic jerks and daily life performance 8 weeks prior to implantation. Key Findings: Follow-up periods ranged from 12-42 months (median 24 months). The best clinical effects were seen with SNr/STN DBS in all patients. VIM stimulation failed to achieve acute therapeutic effects and revealed low side-effect thresholds and even triggering of myoclonia. In all patients the reduction of myoclonic seizures was observed and ranged between 30% and 100% as quantified by a standardized video protocol. All patients reported clinically relevant improvements of various capabilities such as free standing and walking or improved fine motor skills. In one patient with an excellent initial response generalized tonic-clonic seizures increased after 3 months of stimulation following extensive traumarelated surgery. The best effect was seen in the least impaired patient. Significance: DBS of the SNr/STN may be an effective treatment option for patients with PME. Less impaired patients may benefit more markedly. KEY WORDS: Myoclonic epilepsy, Surgery, Deep brain stimulation, Stereotaxy.According to the Proposal of the International League Against Epilepsy (ILAE) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989), progressive myoclonic epilepsy (PME) syndromes are classified as relatively well-defined entities such as Unverricht-Lundborg disease or Lafora's disease. In many instances though, a more specified classification is lacking, although recent developments in molecular genetics have helped to achieve a better understanding of PME (Shahwan et al., 2005). Patients with PME usually develop highly drug-resistant and often trigger-dependent myoclonic jerks and generalized tonic-clonic seizures. The stimulus sensitivity, the severity, the frequent association with additional ataxia and fine motor skills impairment and the correlation with sleeplessness regularly lead to dramatic impairment of personal quality of life with the necessity to use helmets or wheelchairs. In addition, the course of the diseases usually progresses, so that some disorders like Lafora's disease are characterized by a very rapid deterioration with fatal prognosis, whereas other forms such as UnverrichtLundborg disease often show a slow progression with severe impairment of the patients over decades...

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confidence: 99%

Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood-Report of five cases

et al. 2011

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“…Vagal nerve stimulation was implanted in an adult patient with a ULD‐type PME, who was followed for 1 year, and the procedure resulted in a marked reduction in seizures (more than 90 per cent) and a significant improvement in cerebellar function, as demonstrated on neurological examination (Smith et al ., ). Chronic high‐frequency deep brain stimulation (DBS) of the subthalamic nucleus has been used in an adult patient with an undiagnosed form of PME who was disabled due to frequent seizures, despite vagal nerve stimulation and a complex antiepileptic regimen (Vesper et al ., ). After a 12‐month follow‐up, the seizures were reduced in intensity and frequency by 50 per cent.…”

Section: Pharmacological Treatmentmentioning

confidence: 97%

“…Other symptoms, which appear at various times during the course of the illness, include ataxia, cognitive dysfunction (sometimes leading to dementia), pyramidal signs, and a variety of other neurological and extraneurological signs (particularly in mitochondrial diseases). Overall, the treatment of PMEs remains palliative, since there is no specific treatment for most genetic disorders underlying a PME syndrome (Uthman & Reichl, 2002;Shahawan et al, 2005). Despite a variety of anticonvulsants on the market, effective treatment remains challenging due to the fact that although these drugs may control major convulsive seizures, myoclonus does not really respond to the use of classic antiepileptic drugs (AEDs).…”

Section: S146mentioning

confidence: 99%

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials

Michelucci¹,

Pasini²,

Riguzzi³

et al. 2016

Epileptic Disorders

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Generalized motor seizures, usually tonic‐clonic, tonic‐vibratory, myoclonic or clonic, and stimulus‐sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy. Traditional antiepileptic drugs for the treatment of PMEs are valproate, clonazepam, and phenobarbital (or primidone). These drugs may improve the overall performance of PME patients by decreasing their generalized seizures and, to a lesser extent, their myoclonic jerks. Newer drugs which have been shown to be effective include piracetam, levetiracetam, topiramate, zonisamide, and possibly perampanel for Lafora disease. The potential of other drugs (such as L‐triptophan and N‐acetylcysteine) and procedures (such as vagal and deep brain stimulation) has also been discussed. The available data on the efficacy of drugs are mainly based on small series or anecdotal reports. Two prospective, randomized, double blind studies investigating the novel SV2A ligand, brivaracetam, in genetically confirmed Unverricht‐Lundborg patients have been performed with disappointing results. When treating PMEs, particular care should be paid to avoid drugs known to aggravate myoclonus or myoclonic seizures, such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, and pregabalin. The emergency treatment of motor status, which often complicates the course of PMEs, consists of intravenous administration of benzodiazepines, valproate, or levetiracetam.

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“…Generalised convulsive seizures are often part of the phenotype of the progressive myoclonic epilepsies and these are well controlled with classic antiepileptic drugs, whereas myoclonus—which can be the most disabling symptom resulting in the patient becoming wheelchair user—is usually refractory to standard antiepileptic drugs 59. It may be that the drug-resistant myoclonus is subcortical in origin 60…”

Section: Treatmentmentioning

confidence: 99%

The progressive myoclonic epilepsies

2015

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Progressive myoclonic epilepsies are a group of disorders characterised by a relentlessly progressive disease course until death; treatment-resistant epilepsy is just a part of the phenotype. This umbrella term encompasses many diverse conditions, ranging from Lafora body disease to Gaucher's disease. These diseases as a group are important because of a generally poor response to antiepileptic medication, an overall poor prognosis and inheritance risks to siblings or offspring (where there is a proven genetic cause). A correct diagnosis also helps patients and their families to accept and understand the nature of their disease, even if incurable. Here, we discuss the phenotypes of these disorders and summarise the relevant specific investigations to identify the underlying cause.

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Progressive myoclonic epilepsies

Cited by 19 publications

References 57 publications

Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood-Report of five cases

Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood-Report of five cases

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials

The progressive myoclonic epilepsies

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