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Typical progression of myoclonic epilepsy of the Lafora type: a case report

Nature Clinical Practice Neurology volume 4, pages 106–111 (2008)Cite this article

Abstract

Background A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

Investigations Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.

Diagnosis Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).

Management Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.

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Figure 1: Progression of electroencephalography (EEG) changes in a patient with Lafora disease.
Figure 2: Skin biopsy specimen of a patient with Lafora disease.
Figure 3: Genetic analysis of Lafora disease.
Figure 4: Brain at autopsy.
Figure 5: Two recent theories of the pathogenesis of Lafora bodies.

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Authors and Affiliations

  1. in the Department of Neurological Sciences, P Striano is a Consultant Neurologist and Research Assistant at the Epilepsy Center, M Cervasio is a collaborator in the Laboratory of Electron Microscopy, G De Rosa is Professor of Pathological Anatomy, ML Del Basso-De Caro is Associate Professor of Clinical Pathology, and S Striano is Associate Professor of Neurology and Head of the Epilepsy Center, University of Naples Federico II, Naples, Italy.,

    Pasquale Striano, Mariarosaria Cervasio, Gaetano De Rosa, Maria Laura Del Basso-De Caro & Salvatore Striano

  2. F Zara is Head Geneticist in the Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genoa, Italy, in which P Striano is also a Consultant Neurologist and Research Assistant.,

    Pasquale Striano & Federico Zara

  3. J Turnbull is a PhD candidate in the Department of Medical and Molecular Genetics, and BA Minassian is Associate Professor of Pediatrics, at the University of Toronto, Toronto, ON, Canada. BA Minassian is also the Canada Research Chair in Pediatric Neurogenetics.,

    Julie Turnbull & Berge A Minassian

  4. J-M Girard is a Postdoctoral Fellow in the Program in Genetics and Genome Biology and CA Ackerley is Head of the Electron Microscopy facility, at the Hospital for Sick Children, Toronto, ON, Canada.,

    Jean-Marie Girard & Cameron A Ackerley

Authors
  1. Pasquale Striano
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  2. Federico Zara
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  3. Julie Turnbull
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  4. Jean-Marie Girard
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  5. Cameron A Ackerley
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  6. Mariarosaria Cervasio
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  7. Gaetano De Rosa
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  8. Maria Laura Del Basso-De Caro
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  9. Salvatore Striano
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  10. Berge A Minassian
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Corresponding author

Correspondence to Berge A Minassian.

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The authors declare no competing financial interests.

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Striano, P., Zara, F., Turnbull, J. et al. Typical progression of myoclonic epilepsy of the Lafora type: a case report. Nat Rev Neurol 4, 106–111 (2008). https://doi.org/10.1038/ncpneuro0706

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