Journal
JOURNAL OF NEUROLOGY
Volume 260, Issue 7, Pages 1866-1870Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-013-6896-0
Keywords
Pontocerebellar hypoplasia; Spinal muscular atrophy; Magnetic resonance imaging; EXOSC3
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Funding
- (G. Gaslini Institute)-Telethon Genetic Biobank Network [GTB12001]
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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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