Lafora Disease: Epidemiology, Pathophysiology and Management

Overview

Journal CNS Drugs

Specialties Neurology
Pharmacology

Date 2010 Jun 10

PMID 20527995

Citations 14

Authors

Thomas S Monaghan

Norman Delanty

Affiliations

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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.

Citing Articles

Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.

Pellegrini P, Hervera A, Varea O, Brewer M, Lopez-Soldado I, Guitart A Mol Neurobiol. 2021; 59(2):1214-1229.

PMID: 34962634 PMC: 8857170. DOI: 10.1007/s12035-021-02682-6.

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L, Xiong L, Garcia-Gimeno M, Lazzari E, Sanz P, Meroni G Cells. 2021; 10(4).

PMID: 33917450 PMC: 8067510. DOI: 10.3390/cells10040820.

Lafora body disease: a case of progressive myoclonic epilepsy.

Kaur R, Balaini N, Sharma S, Sharma S BMJ Case Rep. 2020; 13(12).

PMID: 33370974 PMC: 7757443. DOI: 10.1136/bcr-2020-236971.

Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Farah B, Yen P, Koeberl D Mol Genet Metab. 2019; 129(1):3-12.

PMID: 31787497 PMC: 7836271. DOI: 10.1016/j.ymgme.2019.11.005.

Lafora Disease: A Ubiquitination-Related Pathology.

Garcia-Gimeno M, Knecht E, Sanz P Cells. 2018; 7(8).

PMID: 30050012 PMC: 6116066. DOI: 10.3390/cells7080087.

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