Lafora

La·fo·ra

(lah-fō'rah),
Gonzalo Rodriguez, Spanish neurologist, 1887-1971. See: Lafora body, Lafora body disease, Lafora disease.
References in periodicals archive ?
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
Relapse can have a devastating effect on patients with schizophrenia and more needs to be done to actively improve adherence to medication if we are to break the cycle of decline," said Professor Fernando Canas, Head of Department of Psychiatry, Hospital Dr Rodriguez Lafora, Madrid, Spain.
Lafora disease is a rare neurometabolic condition caused by a mutation in the EPM2A and/or EPM2B genes.
Keywords: dementia, developmental disability, intellectual disability, Lafora disease, mental retardation, progressive myoclonic epilepsy, psychiatric disorder
One notable example, covering two pages, reports the significance of a mass growing on the neck of his pet spaniel Tom and how this led, eventually, to a better understanding of the mucopolysaccharide content of Lafora bodies found in patients with MLD.
The differential diagnosis of type IV GSD includes Lafora disease, since the liver biopsy can show similar inclusions.
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;
In 1766 the Spanish explorer Nicolas de Lafora found the dunes "very troublesome" and that approaching the only water near them required moving cautiously, for the Apache Indians "are wont to surprise and kill passers-by.
Bu grup epilepsilerden olan Lafora hastaligi, Lafora ve Glueck (1) tarafindan 1911 yilinda tanimlanmistir.
2] Asociacion de Afectados por la Enfermedad de Epilepsia Mioclonica Progresiva de Lafora.
However, identical or similar inclusions can be seen in other disorders thoroughly reviewed recently, such as type IV glycogenosis and Lafora disease.