Lafora disease: epidemiology, pathophysiology and management.

Hdl Handle:
http://hdl.handle.net/10147/126494
Title:
Lafora disease: epidemiology, pathophysiology and management.
Authors:
Monaghan, Thomas S; Delanty, Norman
Affiliation:
Department of Neurology and Neuroscience, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin 9, Ireland.
Citation:
Lafora disease: epidemiology, pathophysiology and management. 2010, 24 (7):549-61 CNS Drugs
Journal:
CNS drugs
Issue Date:
1-Jul-2010
URI:
http://hdl.handle.net/10147/126494
DOI:
10.2165/11319250-000000000-00000
PubMed ID:
20527995
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.
Item Type:
Article
Language:
en
MeSH:
Anticonvulsants; Brain; Carrier Proteins; Diagnosis, Differential; Electroencephalography; Humans; Lafora Disease; Magnetic Resonance Imaging; Mutation; Protein Tyrosine Phosphatases, Non-Receptor
ISSN:
1172-7047

Full metadata record

DC FieldValue Language
dc.contributor.authorMonaghan, Thomas Sen
dc.contributor.authorDelanty, Normanen
dc.date.accessioned2011-03-31T09:37:59Z-
dc.date.available2011-03-31T09:37:59Z-
dc.date.issued2010-07-01-
dc.identifier.citationLafora disease: epidemiology, pathophysiology and management. 2010, 24 (7):549-61 CNS Drugsen
dc.identifier.issn1172-7047-
dc.identifier.pmid20527995-
dc.identifier.doi10.2165/11319250-000000000-00000-
dc.identifier.urihttp://hdl.handle.net/10147/126494-
dc.description.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.-
dc.language.isoenen
dc.subject.meshAnticonvulsants-
dc.subject.meshBrain-
dc.subject.meshCarrier Proteins-
dc.subject.meshDiagnosis, Differential-
dc.subject.meshElectroencephalography-
dc.subject.meshHumans-
dc.subject.meshLafora Disease-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMutation-
dc.subject.meshProtein Tyrosine Phosphatases, Non-Receptor-
dc.titleLafora disease: epidemiology, pathophysiology and management.en
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology and Neuroscience, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin 9, Ireland.en
dc.identifier.journalCNS drugsen
dc.description.provinceLeinster-

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.