[Lafora's disease presenting with progressive myoclonus epilepsy]. / Epilepsie myoclonique progressive révélant une maladie de Lafora.
Rev Neurol (Paris)
; 163(10): 975-8, 2007 Oct.
Article
en Fr
| MEDLINE
| ID: mdl-18033035
Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Lafora
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
Fr
Revista:
Rev Neurol (Paris)
Año:
2007
Tipo del documento:
Article
Pais de publicación:
Francia