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 journalArticle

Abstract

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
Volume22
Issue number3
DOIs
Publication statusPublished - May 1 2018

Fingerprint

Motor Neurons
Mutation
Exome
Phenotype
Spinal Muscular Atrophy
Optic Atrophy
Microcephaly
Brain Diseases
Microtubules
Neurodegenerative Diseases
Atrophy
Epilepsy
Brain

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. / Iacomino, Michele; Fiorillo, Chiara; Torella, Annalaura; Severino, Mariasavina; Broda, Paolo; Romano, Catia; Falsaperla, Raffaele; Pozzolini, Giulia; Minetti, Carlo; Striano, Pasquale; Nigro, Vincenzo; Zara, Federico.

In: European Journal of Paediatric Neurology, Vol. 22, No. 3, 01.05.2018, p. 541-543.

Research output: Contribution to journalArticle

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AU - Fiorillo, Chiara

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AU - Broda, Paolo

AU - Romano, Catia

AU - Falsaperla, Raffaele

AU - Pozzolini, Giulia

AU - Minetti, Carlo

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