Lafora body

La·fo·ra bod·y

(lah-fō'rah), [MIM*254780]
an autosomal recessive disorder characterized by intraneural intracytoplasmic inclusion body composed of acid mucopolysaccharides, seen in familial myoclonic epilepsy.
Farlex Partner Medical Dictionary © Farlex 2012

La·fo·ra body

(lah-fō'rah bod'ē)
An intraneural intracytoplasmic inclusion body composed of acid mucopolysaccharides, seen in familial myoclonus epilepsy.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012


Gonzalo Rodriguez, Spanish neurologist, 1887-1971.
Lafora body - an intraneural intracytoplasmic inclusion body seen in familial myoclonus epilepsy.
Lafora body disease - myoclonus epilepsy beginning at 11 to 18 years of age with progressive mental impairment. Synonym(s): Lafora disease
Lafora disease - Synonym(s): Lafora body disease
Medical Eponyms © Farlex 2012
References in periodicals archive ?
According to the Online Mendelian Inheritance in Man database and relevant literature, PMEs can be divided into 12 subtypes: Unverricht-Lundborg disease (EPM1A), EPM1B, Lafora body disease (EPM2A), Lafora body disease (EPM2B), EPM3, action myoclonus with or without renal failure syndrome (EPM4), PME-ataxia syndrome (EPM5), North Sea PME (EPM6), EPM7, EPM8, EPM9, and EPM10.
In a presentation titled "Lafora Body Degradation by a Therapeutic Enzyme for the Treatment of Lafora Disease," Valerion researchers and collaborators from the University of Kentucky demonstrated, in vitro and in vivo, the ability to deliver VAL-0417 to the skeletal muscle and brain with retention of up to 24 hours following intracerebroventricular (ICV) injection in Lafora mouse models.
The efficiency of diet has been reported in seizures related with Rett syndrome, Lafora body disease, Landau Kleffner syndrome which is known as epileptic aphasia and neuronal seroid lipofuscinosis which is a lysosomal storage disease (26).
Lafora disease (also known as Lafora Body disease) is a rare neurometabolic disorder of autosomal recessive inheritance, which is generally caused by a mutation in EPM2A (4,8,13) or EPM2B genes.
(9) A slide of the Lafora body is presented in Figure 1.
Refractory status epilepticus in intensive care unit: A case of Lafora body disease.
* storage or degenerative myoclonus such as sialidoses (cherry-red-spot-myoclonus); lipidoses; lysosomal storage diseases (e.g., Niemann-Pick type C, Tay-Sachs, Sandhoff's); other storage disorders (neuronal ceroid lipofuscinosis, neuronal brain iron accumulation type 1, Wilson's disease, Lafora body disease); Baltic myoclonus; spinocerebellar ataxias or SCAs; dentatorubropallidoluysian atrophy (DRPLA); multiple sclerosis; and certain mitochondrial disorders;