AffiliationDepartment of Neurology and Neuroscience, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin 9, Ireland.
Magnetic Resonance Imaging
Protein Tyrosine Phosphatases, Non-Receptor
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CitationLafora disease: epidemiology, pathophysiology and management. 2010, 24 (7):549-61 CNS Drugs
AbstractLafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.