Lafora disease

Common Name(s)

Lafora disease

Lafora disease is an inherited progressive myoclonus epilepsy which most commonly starts as epileptic seizures in adolescence. Most cases of Lafora disease are caused by mutations in one of two known genes: EMP2A and EMP2B. Both genes are located on chromosome 6 and are inherited in an autosomal recessive manner. A few cases of Lafora disease are caused by an as yet unidentified gene(s). Lafora disease causes seizures, muscle spasms, difficulty walking, dementia, and eventually death. There is currently no therapy that has proven effective against disease progression. Therapy is primarily palliative and aimed at reducing seizures.  
 

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Condition Specific Organizations

Following organizations serve the condition "Lafora disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lafora disease" returned 46 free, full-text research articles on human participants. First 3 results:

Managing Lafora body disease with vagal nerve stimulation.
 

Author(s): Mohamad A Mikati, Faysal Tabbara

Journal: Epileptic Disord. 2017 Mar;19(1):82-86.

 

A 17-year-old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic-clonic seizures, all of which were drug resistant. The diagnosis ...

Last Updated: 31 Dec 1969

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Efficacy and tolerability of perampanel in ten patients with Lafora disease.
 

Author(s): Danielle Goldsmith, Berge A Minassian

Journal: Epilepsy Behav. 2016 09;62():132-5.

 

Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. Recently, two single-case studies reported drastic reductions in seizures and myoclonus with the AMPA antagonist perampanel and improved activities of daily living. We proceeded to study the ...

Last Updated: 31 Dec 1969

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Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
 

Author(s): Shuchi Mittal, Mamta Upadhyay, Pankaj Kumar Singh, Rashmi Parihar, Subramaniam Ganesh

Journal: J. Biosci.. 2015 Dec;40(5):863-71.

 

Lafora disease (LD), an autosomal recessive and fatal form of neurodegenerative disorder, is characterized by the presence of polyglucosan inclusions in the affected tissues including the brain. LD can be caused by defects either in the EPM2A gene coding for the laforin protein phosphatase ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lafora disease" returned 6 free, full-text review articles on human participants. First 3 results:

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
 

Author(s): Mitchell A Sullivan, Silvia Nitschke, Martin Steup, Berge A Minassian, Felix Nitschke

Journal:

 

Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of ...

Last Updated: 31 Dec 1969

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Lafora disease.
 

Author(s): Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A Ackerley, Berge A Minassian

Journal: Epileptic Disord. 2016 Sep;18(S2):38-62.

 

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated ...

Last Updated: 31 Dec 1969

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Glycogen phosphorylation and Lafora disease.
 

Author(s): Peter J Roach

Journal: Mol. Aspects Med.. 2015 Dec;46():78-84.

 

Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through the work of the Whelan laboratory in the 1990s. But glycogen phosphorylation lay fallow until interest was rekindled in the mid 2000s by the finding that it could be removed by a glycogen-binding ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.