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Article

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2018

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

Abstract excerpt

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...

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PMID: 29307700
DOI: 10.1016/j.ejpn.2017.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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