Lafora disease


Also found in: Dictionary, Thesaurus, Wikipedia.

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 disease

A fatal autosomal recessive disease marked by Lafora bodies within neurons and the cells of the heart, liver, muscle, and skin. Symptoms include seizures, drop attacks, myoclonus, ataxia, and a quickly developing and severe dementia. Synonym: familial myoclonic epilepsy

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 patient's guardian, a number of factors likely contributed to behavioral difficulties including the divorce of his adoptive parents, bad experiences with a series of community placements, frustrations with decline in physical/cognitive abilities, and other effects of Lafora disease.
The cause of death was reportedly respiratory failure secondary to Lafora disease.
However, many of the behavioral and neurological manifestations could have been explained by the diagnosis of Lafora disease. Early diagnosis might have led to more effective and aggressive treatment for the patient.
Lafora disease is an insidious form of myoclonic epilepsy that is very rare.
In addition, genetic screening might not catch all cases of the disorder as it is believed that a third gene yet to be identified is also responsible for the Lafora disease. To date, skin biopsy appears to be the most effective, least intrusive procedure in diagnosing the disorder.
A number of mental health concerns have been reported in the literature, which can occur in conjunction with Lafora disease. Mental health problems reported include dementia, depression, and psychosis.
Nonepileptic visual hallucinations in Lafora disease. Neurology 2005;64:1311-1312.
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.
The Lafora disease gene product laforin interacts with HIRIP5 phylogenetically conserved protein containing NifU-like domain.
The carbohydrate binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
Lafora disease, a form of progressive myoclonus epilepsy, pp 382-422.
Biochemical studies on tissues from a patient with Lafora disease. Clin.