Lafora's disease: Towards a clinical, pathologic, and molecular synthesis

Research output: Contribution to journalReview article

126 Citations (Scopus)

Abstract

Lafora's disease is one of five inherited progressive myoclonus epilepsy syndromes. It is an autosomal-recessive disorder with onset in late childhood or adolescence. Characteristic seizures include myoclonic and occipital lobe seizures with visual hallucinations, scotomata, and photoconvulsions. The course of the disease consists of worsening seizures and an inexorable decline in mental and other neurologic functions that result in dementia and death within 10 years of onset. Pathology reveals pathognomonic polyglucosan inclusions that are not seen in any other progressive myoclonus epilepsy. Lafora's disease is one of several neurologic conditions associated with brain polyglucosan bodies. Why Lafora's polyglucosan bodies alone are associated with epilepsy is unknown and is discussed in this article. Up to 80% of patients with Lafora's disease have mutations in the EPM2A gene. Although common mutations are rare, simple genetic tests to identify most mutations have been established. At least one other still-unknown gene causes Lafora's disease. The EPM2A gene codes for the protein laforin, which localizes at the plasma membrane and the rough endoplasmic reticulum and functions as a dual-specificity phosphatase. Work toward establishing the connection between laforin and Lafora's disease polyglucosans is underway, as are attempts to replace it into the central nervous system of patients with Lafora's disease.

Original languageEnglish (US)
Pages (from-to)21-29
Number of pages9
JournalPediatric Neurology
Volume25
Issue number1
DOIs
StatePublished - Aug 20 2001

Fingerprint

Lafora Disease
Progressive Myoclonic Epilepsy
Seizures
Nervous System
Mutation
Dual-Specificity Phosphatases
Scotoma
Occipital Lobe
Rough Endoplasmic Reticulum
Hallucinations
Genes
Dementia
Epilepsy
Central Nervous System
Cell Membrane
Pathology
polyglucosan
Brain

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Lafora's disease : Towards a clinical, pathologic, and molecular synthesis. / Minassian, Berge A.

In: Pediatric Neurology, Vol. 25, No. 1, 20.08.2001, p. 21-29.

Research output: Contribution to journalReview article

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