title: Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome.
abstract: BACKGROUND
  Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described.
  
  
  METHODS
  We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature.
  
  
  CONCLUSIONS
  The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes.
authors.affiliation: Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, 80131 Naples, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Patrizia
authors.initials: P
authors.lastname: Boccella
authors.forename: Chiara
authors.initials: C
authors.lastname: Sarappa
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000033:anatomy & histology; D002648:Child; D002998:Clonazepam / Q000627:therapeutic use; D004569:Electroencephalography; D004576:Electromyography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis*
chemical_list: D000927:Anticonvulsants; D002998:Clonazepam