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Article

Lafora disease: epidemiology, pathophysiology and management.

CNS drugs - 1 Jul 2010

Monaghan Thomas S, Delanty Norman

Abstract excerpt

Lafora 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...

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Identifiers

PMID: 20527995
DOI: 10.2165/11319250-000000000-00000

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