title: Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters.
abstract: Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings.
authors.affiliation: Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Boccella
authors.forename: P
authors.initials: P
authors.lastname: Striano
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: F
authors.initials: F
authors.lastname: Barbieri
authors.forename: C
authors.initials: C
authors.lastname: Sarappa
authors.forename: G
authors.initials: G
authors.lastname: Vacca
authors.forename: F A
authors.initials: FA
authors.lastname: de Falco
authors.forename: S
authors.initials: S
authors.lastname: Striano
mesh_terms: D000328:Adult; D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics*; D002540:Cerebral Cortex / Q000503:physiopathology; D002896:Chromosomes, Human, Pair 6; D004292:Dominance, Cerebral / Q000502:physiology; D004569:Electroencephalography; D004576:Electromyography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D006580:Genetic Carrier Screening; D018740:Genetic Heterogeneity; D006801:Humans; D020192:Lafora Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017354:Point Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D012867:Skin / Q000473:pathology; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human