Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

Michele Iacomino, Chiara Fiorillo, Annalaura Torella, Mariasavina Severino, Paolo Broda, Catia Romano, Raffaele Falsaperla, Giulia Pozzolini, Carlo Minetti, Pasquale Striano, Vincenzo Nigro, Federico Zara

Research output: Contribution to journalArticlepeer-review


In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. We describe an additional patient with homozygous PRUNE mutation who presented with spinal muscular atrophy phenotype, in addition to the already known brain developmental disorder. This novel feature expands the clinical consequences of PRUNE mutations and allow to converge PRUNE syndrome with previous descriptions of neurodevelopmental/neurodegenerative disorders linked to altered microtubule dynamics.

Original languageEnglish
Pages (from-to)541-543
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Issue number3
Publication statusPublished - May 1 2018


  • Brain development
  • Exome sequencing
  • Motor neuron
  • Muscle biopsy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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