Lafora disease

Definition:

Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

References:

[1]. P Gómez-Garre, et al. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Eur J Hum Genet. 2000 Dec;8(12):946-54. [Content Brief]

[2]. S Singh, et al. Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. [Content Brief]

[3]. Shweta Singh, et al. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat. 2009 May;30(5):715-23. [Content Brief]

[4]. Subramaniam Ganesh, et al. Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. J Hum Genet. 2006;51(1):1-8. [Content Brief]

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