title: Antimyoclonic effect of levetiracetam in MERRF syndrome.
abstract: The treatment of progressive myoclonic epilepsy (PME) is largely empirical, even though valproic acid (VPA) is usually considered the drug of first choice. However, VPA should be used with caution in PME due to mitochondrial dysfunction, i.e. in MERRF (myoclonic epilepsy with ragged red fibers) syndrome, because of its interaction with mitochondrial respiration and metabolism. Levetiracetam (LEV) treatment was started in combination with VPA in a patient with typical clinical, histological, and biochemical features of MERRF due to a mutation on the tRNA of Phenilalanine gene. The average myoclonus score improved dramatically, as well as the quality of life and no side effects were observed, even after having withdrawn VPA. LEV may benefit myoclonus in PME of mitochondrial origin without altering mitochondrial function, and it could be considered the drug of first choice for the treatment of myoclonus in MERRF.
authors.affiliation: Neurophysiopathology Unit, Hospital of Pontedera, Italy. mmancuso@inwind.it
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Renato
authors.initials: R
authors.lastname: Galli
authors.forename: Chiara
authors.initials: C
authors.lastname: Pizzanelli
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
mesh_terms: D000203:Activities of Daily Living; D000927:Anticonvulsants / Q000494:pharmacology* / Q000627:therapeutic use; D001284:Atrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004359:Drug Therapy, Combination; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D000077287:Levetiracetam; D017243:MERRF Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D008928:Mitochondria / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D010649:Phenylalanine / Q000235:genetics / Q000378:metabolism; D010889:Piracetam / Q000031:analogs & derivatives* / Q000494:pharmacology / Q000627:therapeutic use; D011788:Quality of Life; D012343:RNA, Transfer / Q000235:genetics; D016896:Treatment Outcome; D014451:Ubiquinone / Q000627:therapeutic use; D014635:Valproic Acid / Q000009:adverse effects
chemical_list: D000927:Anticonvulsants; D014451:Ubiquinone; D000077287:Levetiracetam; D010649:Phenylalanine; D014635:Valproic Acid; D012343:RNA, Transfer; D010889:Piracetam