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Journal of Neurology
Published in: Journal of Neurology 7/2013

01-07-2013 | Original Communication

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

Authors: 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

Published in: Journal of Neurology | Issue 7/2013

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Abstract

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.
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Metadata
Title
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
Authors
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
Publication date
01-07-2013
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 7/2013
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-013-6896-0

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