How does laforin cause Lafora disease?

Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The absence of either protein results in poorly branched, hyperphosphorylated glycogen, which precipitates, aggregates and accumulates into Lafora bodies.

How many people are affected by 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 disease is associated with laforin?

Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the central nervous system and in many other organs.

What are the signs and symptoms of Lafora disease?

The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures.

What kind of epilepsy does Lafora disease cause?

Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence.

What are the inclusions in Lafora disease called?

Lafora disease is distinguished by the presence of inclusions called “Lafora bodies” within the cytoplasm of cells. Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has abnormal chain lengths, which causes them to be insoluble, accumulate, and have a neurotoxic effect.

Is there a cure or treatment for Lafora disease?

Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. 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.