Skip to main content

Death in Unverricht–Lundborg disease

Abstract

The objective of this study is to report cases of unexpected deaths in Unverricht–Lundborg disease (ULD) patients, a comparatively benign form of progressive myoclonus epilepsy. We performed a multicentric study of the circumstances of death in ULD patients seen in the last 16 years. We assessed age, sex, severity and duration of disease, antiepileptic drugs, circumstances and presumed cause of death. Nineteen observations (12 females, 7 males) were collected from four centers (Tunis, Marseille, Milan, Belgrade). The most common causes of death are (1) SUDEP (six cases, all female), with 4/6 on phenobarbital alone, and (2) complications of severe ULD (six cases). Two patients committed suicide. Only one death was clearly unrelated to ULD (car accident), while four patients died of stroke, drowning, complications of chronic alcoholism and Wernicke encephalopathy, respectively. In conclusion, although the prognosis of ULD has progressed, there are still spontaneously severe forms and high risk of early death, including SUDEP.

This is a preview of subscription content, access via your institution.

References

  1. Genton P, Malafosse A, Moulard B et al (2005) Progressive myoclonus epilepsies. In: Roger J, Bureau M, Dravet CH et al (eds) Epileptic syndromes in infancy, childhood and adolescence, 4th edn. John Libbey Eurotext Ltd, Montrouge, pp 441–465

    Google Scholar 

  2. Genton P, Michelucci R, Tassinari CA, Roger J (1990) The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand 81:8–15

    PubMed  CAS  Google Scholar 

  3. Moulard B, Genton P, Grid D et al (2002) Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. Hum Genet 111:255–262

    PubMed  Article  CAS  Google Scholar 

  4. Magaudda A, Ferlazzo E, Nguyen VH, Genton P (2006) Unverricht–Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 47:860–866

    PubMed  Article  Google Scholar 

  5. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R (1974) Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 50:307–332

    PubMed  CAS  Article  Google Scholar 

  6. Hauser WA, Annegers JF, Elveback LR (1980) Mortality in patients with epilepsy. Epilepsia 21:399–412

    PubMed  Article  CAS  Google Scholar 

  7. Shackleton D, Westendorp R, Kasteleijin-Nolst Trenité D (2002) Survival of patients with epilepsy: an estimate of the mortality risk. Epilepsia 43:445–450

    PubMed  Article  Google Scholar 

  8. Lindsten H, Nyström L, Forsgren L (2000) Mortality risk in an adult cohort with a newly diagnosed unprovoked epileptic seizure: a population-based study. Epilepsia 41:1469–1473

    PubMed  Article  CAS  Google Scholar 

  9. Wick R, Byard RW (2006) Mechanisms of unexpected and/or sudden death in Lafora disease. Forensic Sci Int 163:144–147

    PubMed  Article  Google Scholar 

  10. Magaudda A, Ferlazzo E, Nguyen VH, Genton P (2006) Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 47:860–866

    PubMed  Article  Google Scholar 

  11. Cockerell OC, Johnson AL, Sander JWAS et al (1994) Mortality from epilepsy: results from a prospective population-based study. Lancet 344:918–921

    PubMed  Article  CAS  Google Scholar 

  12. Gouider R, Ibrahim S, Fredj M et al (1998) Unverricht-Lündborg disease: clinical and electrophysiologic study of 19 Maghreb families. Rev Neurol (Paris) 154:503–507

    CAS  Google Scholar 

  13. Genton P, Guerrini R (1990) Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. Neurology 40:1412–1416

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hela Mrabet Khiari.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Khiari, H.M., Franceschetti, S., Jovic, N. et al. Death in Unverricht–Lundborg disease. Neurol Sci 30, 315–318 (2009). https://doi.org/10.1007/s10072-009-0102-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-009-0102-2

Keywords

  • Multicentric study
  • Unverricht Lundborg disease
  • Epilepsy
  • Death
  • SUDEP