Lafora body disease: pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Lafora body disease: pathology. EPM2A: this is on chromosome 6q and it encodes laforin. Fully referenced neurology checklist.

Genetic mutations

  • EPM2A: this is on chromosome 6q and it encodes laforin
  • EPM2B (NHLRC1): this is on chromosome 6p and it encodes malin E3 ubiquitin ligase
  • PRDM8: this is on chromosome 4q
  • NHLRC1 variant: case report

Pathology

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Electroencephalogram (EEG): features

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References

  1. Chan EM, Omer S, Ahmed M, et al. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology 2004; 63:565-567.
  2. Romá-Mateo C, Sanz P, Gentry MS. Deciphering the role of malin in the lafora progressive myoclonus epilepsy. IUBMB Life 2012; 64:801-808.
  3. Lohi H, Turnbull J, Zhao XC, et al. Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2007; 68:996-1001. 
  4. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
  5. Andrade DM, Turnbull J, Minassian BA. Lafora disease, seizures and sugars. Acta Myol 2007; 26:83-86.
  6. And 4 more. Subscribe to see the full list

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