Lafora

Lafora is a surname of Spanish origin. In medical terminology, the name is associated with Lafora disease, a fatal progressive myoclonus epilepsy named after the Spanish physician Gonzalo Lafora, who first described the condition in 1911.

Lafora disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the EPM2A gene, encoding laforin, or in the EPM2B/NHLRC1 gene, encoding malin. The defective protein complex leads to accumulation of Lafora bodies, which are insoluble polyglucosan inclusions found in neurons and other tissues. These inclusions can be detected by periodic acid–Schiff staining that is resistant to diastase digestion.

Clinically, Lafora disease typically presents in adolescence with seizures and myoclonus, followed by progressive ataxia, visual disturbances, autonomic dysfunction, and cognitive decline. The disease progresses over years toward severe disability and is ultimately fatal. Diagnosis is established through genetic testing of EPM2A and NHLRC1 and by skin or tissue biopsy showing Lafora bodies.

There is currently no cure for Lafora disease. Management focuses on symptomatic treatment, including antiepileptic medications to control seizures and myoclonus, supportive and rehabilitative care, and counseling for families. Research is ongoing into therapies aimed at reducing Lafora body formation or correcting the underlying genetic defects.

Notable people with the Lafora surname include Gonzalo Lafora, a Spanish physician associated with the identification of Lafora disease.