Lafora disease

Lafora disease, also Lafora inclusion body disease, is an inherited disease that belongs to the group of progressive myoclonus epilepsies and Polyglukosankrankheiten. It is characterized by the presence of myoclonic epilepsy, hallucinations and dementia. Lafora disease manifests itself in late childhood or adolescence.

The reason for the emergence of Lafora disease in 80 percent of cases, mutations in the genes EPM2A and NHLRC1 (synonym: EPM2B ). EPM2A the gene encoding the Laforin, an enzyme from the group of phosphatases .. The NHLCR1 gene encoding the E3 ubiquitin - protein ligase NHLRC1, also referred to as Malin. At 20 per cent of cases the causative gene or the mutation is not known yet.

If you suspect the presence of Lafora disease, a sample from the skin removed (skin biopsy). In the microscopic examination are known as Lafora bodies detectable. There then follows a molecular genetic analysis of these genes.