Advertisement

Unverricht–Lundborg Disease (EPM1)

  • Reetta Kälviäinen
  • Esa Mervaala
Reference work entry

Definition

Progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder that has the highest incidence among the progressive myoclonus epilepsies worldwide (Marseille Consensus Group 1990). EPM1 is characterized by stimulus-sensitive myoclonus and tonic-clonic epileptic seizures. As EPM1 progresses, patients develop additional neurological symptoms including ataxia, dysarthria, intentional tremor, and decreased coordination (Norio and Koskiniemi 1979). Loss-of-function mutations in the gene encoding CYSTATIN B (CSTB) are the primary genetic cause of EPM1 (Joensuu et al. 2008).

Clinical Manifestation

At disease onset (6–16 years), EPM1 patients present primarily with myoclonic jerks and/or generalized tonic-clonic seizures. Involuntary action-activated or stimulus-sensitive myoclonus (i.e., triggered by light, physical activity, noise, cognitive stimulus, and/or stress) is observed in the majority of patients (Koskiniemi et...

Keywords

Myoclonic Jerk Juvenile Myoclonic Epilepsy Myoclonic Seizure Lafora Disease Progressive Myoclonic Epilepsy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Video 1

(SK and SK legs and walking) A 19-year-old patient with very mild ULD diagnosed earlier as juvenile myoclonus epilepsy. ULD was recently diagnosed on the basis of difficulties in running and playing football and somewhat more pronounced myoclonic jerks than usual in JME (wmv file: 16596 kB)

Video 2

(SK and SK legs and walking) A 19-year-old patient with very mild ULD diagnosed earlier as juvenile myoclonus epilepsy. ULD was recently diagnosed on the basis of difficulties in running and playing football and somewhat more pronounced myoclonic jerks than usual in JME (wmv file: 16081 kB)

Video 3 (007 SML)

A 26-year-old patient with severe ULD and myoclonus. The patient is already wheelchair bound and not able to walk (mpeg file: 32659 kB)

References

  1. Bassuk AG et al. (2008) A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 83(5):572–581CrossRefPubMedGoogle Scholar
  2. Berkovic SF et al. (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82(3):673–684CrossRefPubMedGoogle Scholar
  3. Danner N et al. (2009) Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). Epilepsy Res 85(1):81–88CrossRefPubMedGoogle Scholar
  4. Franceschetti S et al. (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 87(3):219–223CrossRefPubMedGoogle Scholar
  5. Genton P, Gelisse P (2000) Antimyoclonic effect of levetiracetam. Epileptic Disord 2(4):209–212PubMedGoogle Scholar
  6. Joensuu T, Lehesjoki AE, Kopra O (2008) Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia 49(4):557–563CrossRefPubMedGoogle Scholar
  7. Kälviäinen R et al. (2008) Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 49(4):549–556CrossRefPubMedGoogle Scholar
  8. Koskenkorva P et al. (2009) Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study. Neurology 73(8):606–611CrossRefPubMedGoogle Scholar
  9. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R (1974) Progressive myoclonic epilepsy: electroencephalographic findings. Acta Neurol Scand 50(3):307–332CrossRefPubMedGoogle Scholar
  10. Koskiniemi M et al. (1998) Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo. J Neurol Neurosurg Psychiatry 64(3):344–348CrossRefPubMedGoogle Scholar
  11. Marseille Consensus Group (1990) Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 28:113–116CrossRefGoogle Scholar
  12. Magaudda A, Gelisse P, Genton P (2004) Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations. Epilepsia 45(6):678–681CrossRefPubMedGoogle Scholar
  13. Medina MT et al. (2005) Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. Adv Neurol 95:307–323PubMedGoogle Scholar
  14. Norio, R, Koskiniemi M (1979) Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 15(5):382–398CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag London Limited 2010

Authors and Affiliations

  • Reetta Kälviäinen
    • 1
  • Esa Mervaala
    • 2
  1. 1.Kuopio Epilepsy Center, Department of NeurologyKuopio University HospitalKuopioFinland
  2. 2.Kuopio Epilepsy Center, Department of Clinical NeurophysiologyKuopio University HospitalKuopioFinland

Personalised recommendations