EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

Roberta Biancheri, Denise Cassandrini, Francesca Pinto, Rosanna Trovato, Maja Di Rocco, Marisol Mirabelli-Badenier, Marina Pedemonte, Chiara Panicucci, Holger Trucks, Thomas Sander, Federico Zara, Andrea Rossi, Pasquale Striano, Carlo Minetti, Filippo Maria Santorelli

Research output: Contribution to journalArticlepeer-review


Pontocerebellar hypoplasia (PCH) type 1 is characterized by the co-occurrence of spinal anterior horn involvement and hypoplasia of the cerebellum and pons. EXOSC3 has been recently defined as a major cause of PCH type 1. Three different phenotypes showing variable severity have been reported. We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype". Interestingly, isolated cerebellar hypoplasia limited to the hemispheres or involving both hemispheres and vermis was the main neuroradiologic finding, whereas the pontine volume was in the normal range for age. These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia.

Original languageEnglish
Pages (from-to)1866-1870
Number of pages5
JournalJournal of Neurology
Issue number7
Publication statusPublished - Jul 2013


  • EXOSC3
  • Magnetic resonance imaging
  • Pontocerebellar hypoplasia
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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