title: Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.
abstract: Lafora disease is a fatal, autosomal recessive form of progressive myoclonus epilepsy. Patients characteristically exhibit myoclonic and tonic-clonic seizures and cognitive impairment, beginning in their second decade. Alterations in two genes were identified as the cause of the disease. Mutations in the NHL repeat containing 1 (NHLRC1) gene were described in association with a more benign clinical course and later age of death, compared with epilepsy progressive myoclonus type 2A (EPM2A) mutations. We describe a rapidly progressive phenotype of Lafora disease in an adolescent patient with a novel NHLRC1 mutation. He developed severe disability and dementia less than 2 years after the onset of signs.
authors.affiliation: Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestrasse 15, 91054 Erlangen, Germany. florian.brackmann@uk-erlangen.de
authors.forename: Florian A
authors.initials: FA
authors.lastname: Brackmann
authors.forename: Alexander
authors.initials: A
authors.lastname: Kiefer
authors.forename: Abbas
authors.initials: A
authors.lastname: Agaimy
authors.forename: Martin
authors.initials: M
authors.lastname: Gencik
authors.forename: Regina
authors.initials: R
authors.lastname: Trollmann
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D018450:Disease Progression; D006801:Humans; D020192:Lafora Disease / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013997:Time Factors; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases