Is there a cure for Lafora?
Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to manage generalized seizures.
What causes laforin?
Description. Collapse Section. Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.
What disease is laforin involved in?
Abstract. Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration and the presence of intracellular polyglucosan inclusions (Lafora bodies) in different tissues.
How is Lafora disease caused?
Lafora Overview Lafora disease is the most severe form of human epilepsy. It is an inherited myoclonus epilepsy syndrome. Most cases of Lafora disease are caused by mutations in one of two known genes: EMP2A and EMP2B. Both genes are located in chromosome 6.
Where is laforin located?
the brain
The EPM2A gene provides instructions for making a protein called laforin. Although this protein is active in cells throughout the body, it appears to play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that laforin has multiple functions within cells.
What type of mutation is laforin?
Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydate-binding domain, which is mutated in patients with Lafora disease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20 (CBM20).
What is the function of laforin?
Additionally, laforin may act as a tumor suppressor protein, which means that it keeps cells from growing and dividing in an uncontrolled way. Laforin and malin likely play a critical role in regulating the production of a complex sugar called glycogen. Glycogen is a major source of stored energy in the body.
How long can you live with myoclonus?
Children who develop this disease in early childhood don’t normally survive for longer than 10 years after diagnosis. Adults who develop the disease may have a normal life expectancy. For a child to develop this disorder, it’s believed that they need to inherit the defective gene from both parents.
How common is Lafora disease?
The disease has been found in more than 250 families throughout the world, resulting from EPM2A (responsible for Laforin) and EPM2B (responsible for E3 ubiquitin-protein ligase NHLRC1) mutations, and the prevalence seems to be close to four cases per one million persons.
What is the normal function of laforin?
When was the gene EPM2A discovered?
Using a positional cloning approach in this region, Minassian et al. (1998) identified a novel gene, EPM2A, encoding a protein, termed laforin, with a consensus amino acid sequence indicative of a protein-tyrosine phosphatase (PTP).