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.

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

Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.
 

Author(s): Yin Wang, Keli Ma, Peixiang Wang, Otto Baba, Helen Zhang, Jack M Parent, Pan Zheng, Yang Liu, Berge A Minassian, Yan Liu

Journal: Mol. Neurobiol.. 2013 Aug;48(1):49-61.

 

Glycogen, the largest cytosolic macromolecule, is soluble because of intricate construction generating perfect hydrophilic-surfaced spheres. Little is known about neuronal glycogen function and metabolism, though progress is accruing through the neurodegenerative epilepsy Lafora disease ...

Last Updated: 23 Jul 2013

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Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease.
 

Author(s): Jaiprakash Sharma, Diptendu Mukherjee, Sudheendra N R Rao, Soumya Iyengar, Susarla Krishna Shankar, Parthasarathy Satishchandra, Nihar Ranjan Jana

Journal: J. Biol. Chem.. 2013 Mar;288(13):9482-90.

 

Lafora disease (LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phosphatase laforin or ubiquitin ligase malin. But how the loss of function of either ...

Last Updated: 1 Apr 2013

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Early-onset Lafora body disease.
 

Author(s): Julie Turnbull, Jean-Marie Girard, Hannes Lohi, Elayne M Chan, Peixiang Wang, Erica Tiberia, Salah Omer, Mushtaq Ahmed, Christopher Bennett, Aruna Chakrabarty, Atul Tyagi, Yan Liu, Nela Pencea, XiaoChu Zhao, Stephen W Scherer, Cameron A Ackerley, Berge A Minassian

Journal: Brain. 2012 Sep;135(Pt 9):2684-98.

 

The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht-Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder ...

Last Updated: 10 Sep 2012

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

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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Lafora disease, seizures and sugars.
 

Author(s): D M Andrade, J Turnbull, B A Minassian

Journal: Acta Myol. 2007 Jul;26(1):83-6.

 

Lafora disease (LD) is the most severe form of Progressive Myoclonus Epilepsy with teenage onset. It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure. In the last decade, with ...

Last Updated: 5 Oct 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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