EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

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• 作者：Roberta Biancheri (1)
  Denise Cassandrini (2)
  Francesca Pinto (1)
  Rosanna Trovato (2)
  Maja Di Rocco (3)
  Marisol Mirabelli-Badenier (1)
  Marina Pedemonte (1)
  Chiara Panicucci (1)
  Holger Trucks (4)
  Thomas Sander (4)
  Federico Zara (1)
  Andrea Rossi (5)
  Pasquale Striano (1) (6)
  Carlo Minetti (1) (6)
  Filippo Maria Santorelli (2)
  
• 关键词：Pontocerebellar hypoplasia ; Spinal muscular atrophy ; Magnetic resonance imaging ; EXOSC3
• 刊名：Journal of Neurology
• 出版年：2013
• 出版时间：July 2013
• 年：2013
• 卷：260
• 期：7
• 页码：1866-1870
• 全文大小：452KB
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• 作者单位：Roberta Biancheri (1)
  Denise Cassandrini (2)
  Francesca Pinto (1)
  Rosanna Trovato (2)
  Maja Di Rocco (3)
  Marisol Mirabelli-Badenier (1)
  Marina Pedemonte (1)
  Chiara Panicucci (1)
  Holger Trucks (4)
  Thomas Sander (4)
  Federico Zara (1)
  Andrea Rossi (5)
  Pasquale Striano (1) (6)
  Carlo Minetti (1) (6)
  Filippo Maria Santorelli (2)
  
  1. Neuroscience Department, Istituto G. Gaslini, Largo G. Gaslini 5, 16147, Genoa, Italy
  2. Molecular Medicine Unit, IRCCS Stella Maris, Pisa, Italy
  3. Unit for Rare Disorders, Istituto G. Gaslini, Genoa, Italy
  4. Cologne Center for Genomics, University of Cologne, Cologne, Germany
  5. Pediatric Neuroradiology Unit, Istituto G. Gaslini, Genoa, Italy
  6. Pediatric Neurology and Muscular Diseases Unit, University of Genova and G. Gaslini Institute, Genoa, Italy
  

文摘

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.