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CNS Drugs

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01-07-2010 | Therapy in Practice

Lafora disease

Epidemiology, pathophysiology and management

Authors: Thomas S. Monaghan, Dr Norman Delanty

Published in: CNS Drugs | Issue 7/2010

Abstract

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 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.

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Title: Lafora disease
Epidemiology, pathophysiology and management
Authors: Thomas S. Monaghan
Dr Norman Delanty
Publication date: 01-07-2010
Publisher: Springer International Publishing
Published in: CNS Drugs / Issue 7/2010
Print ISSN: 1172-7047
Electronic ISSN: 1179-1934
DOI: https://doi.org/10.2165/11319250-000000000-00000

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Lafora disease

Epidemiology, pathophysiology and management

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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