Gonzalo Rodríguez-Lafora (Madrid, July 25, 1886 – Madrid, December 27, 1971)
was a Spanish neurologist and psychiatrist who described Lafora disease in 1911.
Lafora disease is the most severe form of human epilepsy.
Lafora disease is the most severe form of human epilepsy.
It is a pathology that falls within the group of genetic glycogen storage disorders (Lafora bodies). Most cases of this rare disease are caused by mutations in one of two known genes: EPM2A and EPM2B, both located on chromosome 6.
The EPM2A gene codes for a protein called Laforin, while the EPM2B gene codes for a protein called Malin.
However, some cases of the disease are attributable to mutations in one or more as yet unidentified genes.
The disease most commonly begins with epileptic seizures in adolescence, although in rare cases it can manifest in children between 5 and 6 years old as a learning disability.
Lafora disease is reported worldwide, with a higher incidence among children of Middle Eastern, Southern European (Spain, France, and Italy), South Asian (India and Pakistan), and North African descent. It affects males and females equally.
Gonzalo Rodríguez-Lafora (Madrid, July 25, 1886 – Madrid, December 27, 1971)
was a Spanish neurologist and psychiatrist who described Lafora disease in 1911.
Lafora disease is devastating. Although the child is born with the genetic mutation, symptoms typically do not manifest until adolescence. Children grow normally, with no apparent problems, until they begin to suffer from seizures.
This is one of the cruelest aspects of Lafora: an apparently healthy and well-developed child, with a promising life ahead, suddenly faces a "death sentence."
The diagnosis of Lafora disease can be suspected based on family history, age of onset, characteristic patterns of symptom presentation, rapid deterioration of cognitive functions, and peculiarities found in the electroencephalogram (EEG).
The diagnosis can be confirmed through a skin biopsy of the axillary region, which shows the presence of Lafora bodies (polyglycosan accumulations) in the cells of the sweat ducts. Genetic testing is a fundamental diagnostic support, as mutations in the EPM2A and EPM2B genes are present in over 90% of cases.
You can read the stories of patients affected by Lafora disease to better understand the impact of this condition and why finding a cure is urgent.
Currently, therapy is primarily palliative and focuses on reducing seizures.
From the first manifestation, which usually coincides with the first epileptic seizure, a person with Lafora unfortunately dies within ten years.
Research has made significant progress in recent years, but there is still no definitive cure.
Among the therapies currently under study:
Recurrent and increasingly intractable seizures
Cognitive decline
Ataxia (difficulty controlling muscles)
Myoclonus
Difficulty walking
Difficulty speaking
Dementia