Lafora disease
myoclonic epilepsy of Lafora

Symptoms of Lafora disease begin to manifest themselves in children from 10 to 17 years old.

Polyglucosan bodies appear with age; in Lafora disease, their numbers have increased enormously.

He was best known now for describing (in 1911) the intracytoplasmic inclusion bodies in "Lafora disease".

Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease.

Lafora disease is a rare genetic disorder marked by the presence of abnormal polyglucosan deposits.

Lafora disease is one of the common PMEs.

Lafora disease is distinguished by the presence of inclusions called "Lafora bodies" within the cytoplasm.

Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown.

Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions).

Laforin, encoded by the EPM2A gene, is a protein mutated in patients with Lafora disease.

Lafora disease is an autosomal recessive disorder, caused by mutations in one of two known genes: EPM2A and EPM2B.

Lafora disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two copies of a defective gene, one from each parent.

Lafora disease is also known as Lafora progressive myoclonus epelepsy, which is an autosomal recessive inherited disorder involving reoccurrent seizures and degradation of mental capabilities.

Malin, another protein mutated in Lafora disease, aids in the degradation of PTG, with assistance from laforin via the ubiquitin proteasome system (UPS).

Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF syndrome), Lafora disease, neuronal ceroid lipofucinosis, and sialdosis.

Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within neurons and the cells of the heart, liver, muscle, and skin.