Lafora body disease

La·fo·ra bod·y dis·ease

(lah-fō'rah), [MIM*254780]
a form of progressive myoclonus epilepsy beginning from age 6-19; characterized by generalized tonic-clonic seizures, resting and action myoclonus, ataxia, dementia, and classic EEG findings, including polyspike and wave discharges; basophilic cytoplasmic inclusion bodies present in portions of the brain, the liver, and skin, as well as the duct cells of the sweat glands. Death usually occurs within 10 years of onset; autosomal recessive inheritance, caused by mutation in the progressive myoclonic epilepsy 2 gene (EPM2A) on chromosome 6q.
Synonym(s): Lafora disease

Lafora,

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
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.
Early-onset Lafora body disease. Brain 2012;135:2684-98.
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.
Refractory status epilepticus in intensive care unit: A case of Lafora body disease. Inter J Emer Inten Care Med 2003;E6(2):[on-line serial].
* 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;