Clinical picture of EPM1‐Unverricht‐Lundborg disease

Kälviäinen, Reetta; Khyuppenen, Jelena; Koskenkorva, Päivi; Eriksson, Kai; Vanninen, Ritva; Mervaala, Esa

doi:10.1111/j.1528-1167.2008.01546.x

Cited by 180 publications

(211 citation statements)

References 46 publications

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“…Although genetically not classified as PME type 1, most of our patients has features resembling those of this PME class, including stimulus-sensitive myoclonus, generalized tonic-clonic seizures, ataxia, uncoordination, intentional tremor, dysarthria, and cognitive decline over years. Emotional lability and depression are also described (Kalviainen et al, 2008). Cognitive decline and rapid progression in Patient 2 suggest a more severe form of PME.…”

Section: Discussionmentioning

confidence: 99%

“…A genetic background of Unverricht-Lundborg disease classified as PME type 1 (Kalviainen et al, 2008) was proven only in Patient 3. Although genetically not classified as PME type 1, most of our patients has features resembling those of this PME class, including stimulus-sensitive myoclonus, generalized tonic-clonic seizures, ataxia, uncoordination, intentional tremor, dysarthria, and cognitive decline over years.…”

Section: Discussionmentioning

confidence: 99%

“…VPA is recommended as the first drug of choice. Benzodiazepines, piracetam, chloral hydrate, LEV, TPM, and ZNS were reported to have some therapeutic effect, either on myoclonia alone or on the frequency of generalized tonic-clonic seizures (Genton & Guerrini, 1990;Paulus et al, 1991;Pranzatelli & Tate, 2001;Conry, 2004;Crest et al, 2004;Aykutlu et al, 2005;Magaudda et al, 2006;Mancuso et al, 2006;Kalviainen et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

et al. 2011

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“…Unverricht-Lundborg disease is an autosomal recessive neurodegenerative disease [3]. PME was first defined by Lundborg in 1903 [9].…”

Section: Discussionmentioning

confidence: 99%

Unverricht-Lundborg Disease: A Case Report and Literature Review

Batum

2016

CSMC

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“…Individuals with EPM1 are mentally alert but show depression and mild decline in intellectual performance over time. 6 Cerebellar atrophy and motor cortex degeneration are largely responsible for the loss in equilibrium, correlating with the motor symptoms of the disease. 7 The diagnosis of EPM1 is confirmed by identifying disease-causing mutations in the CysB gene.…”

mentioning

confidence: 99%

Role of Cystatin C in Neuroprotection and Its Therapeutic Implications

D’Adamio

2010

The American Journal of Pathology

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Clinical picture of EPM1‐Unverricht‐Lundborg disease

Cited by 180 publications

References 46 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

Unverricht-Lundborg Disease: A Case Report and Literature Review

Role of Cystatin C in Neuroprotection and Its Therapeutic Implications

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