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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 48 free, full-text research articles on human participants. First 3 results:

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: 9 Dec 2015

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Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
 

Author(s): Madushi Raththagala, M Kathryn Brewer, Matthew W Parker, Amanda R Sherwood, Brian K Wong, Simon Hsu, Travis M Bridges, Bradley C Paasch, Lance M Hellman, Satrio Husodo, David A Meekins, Adam O Taylor, Benjamin D Turner, Kyle D Auger, Vikas V Dukhande, Srinivas Chakravarthy, Pascual Sanz, Virgil L Woods, Sheng Li, Craig W Vander Kooi, Matthew S Gentry

Journal: Mol. Cell. 2015 Jan;57(2):261-72.

 

Glycogen is the major mammalian glucose storage cache and is critical for energy homeostasis. Glycogen synthesis in neurons must be tightly controlled due to neuronal sensitivity to perturbations in glycogen metabolism. Lafora disease (LD) is a fatal, congenital, neurodegenerative ...

Last Updated: 24 Jan 2015

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Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.
 

Author(s): Anna A DePaoli-Roach, Christopher J Contreras, Dyann M Segvich, Christian Heiss, Mayumi Ishihara, Parastoo Azadi, Peter J Roach

Journal: J. Biol. Chem.. 2015 Jan;290(2):841-50.

 

Glycogen is a branched polymer of glucose that acts as an energy reserve in many cell types. Glycogen contains trace amounts of covalent phosphate, in the range of 1 phosphate per 500-2000 glucose residues depending on the source. The function, if any, is unknown, but in at least ...

Last Updated: 10 Jan 2015

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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 4 free, full-text review articles on human participants. First 3 results:

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: 28 Nov 2015

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Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss.
 

Author(s): Rajiv Madathiparambil Joseph

Journal: Genomics. ;103(2-3):183-8.

 

Neuronatin (NNAT) is a ubiquitous and highly conserved mammalian gene involved in brain development. Its mRNA isoforms, chromosomal location, genomic DNA structure and regulation have been characterized. More recently there has been rapid progress in the understanding of its function ...

Last Updated: 15 Apr 2014

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Lafora disease: insights into neurodegeneration from plant metabolism.
 

Author(s): Matthew S Gentry, Jack E Dixon, Carolyn A Worby

Journal: Trends Biochem. Sci.. 2009 Dec;34(12):628-39.

 

Reversible phosphorylation modulates nearly every step of glycogenesis and glycogenolysis. Multiple metabolic disorders are the result of defective enzymes that control these phosphorylation events, enzymes that were identified biochemically before the advent of the molecular biology ...

Last Updated: 27 Nov 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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