Spinal muscular atrophy and progressive myoclonic epilepsy: One case report and characteristics of the epileptic syndrome

Pasquale Striano, Patrizia Boccella, Chiara Sarappa, Salvatore Striano

Research output: Contribution to journalArticle

Abstract

Introduction: 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. Case report: We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature. Conclusion: 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.

Original languageEnglish
Pages (from-to)582-586
Number of pages5
JournalSeizure
Volume13
Issue number8
DOIs
Publication statusPublished - Dec 2004

Keywords

  • Progressive myoclonic epilepsy
  • Review
  • SMA plus
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Psychology(all)

Fingerprint Dive into the research topics of 'Spinal muscular atrophy and progressive myoclonic epilepsy: One case report and characteristics of the epileptic syndrome'. Together they form a unique fingerprint.

  • Cite this