Canis ISSN: 2398-2942

Lafora disease

Synonym(s): Lafora's disease; LD

Contributor(s): Laurent Garosi, Clare Rusbridge

Introduction

  • Lafora disease is an inherited, late onset, progressive myoclonic epilepsy.
  • Myoclonus (jerking) is a feature of the disease which characteristically can be induced by flashing lights, sudden sounds and movement especially that are close to the dogs head.
  • Generalized or complex partial seizures Seizures may be seen in some dogs. The disease progresses slowly over many years and gradually other neurological deficits such as ataxia, blindness and dementia occur.

Pathogenesis

Etiology

  • Laforas disease is caused by a mutation in the EPM2B (NHLRC1) a gene that encodes malin E3 ubiquitin ligase, a protein involved with carbohydrate metabolism. Early data suggests that these proteins safeguard neurons against accumulating too many carbohydrates.
  • Lafora disease has an autosomal recessive inheritance, ie both the sire and the dam will either carry (ie have no signs of the disease and have one copy of the abnormal gene) or have the disease.

Diagnosis

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Treatment

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Outcomes

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Further Reading

Publications

Refereed papers


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