EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

被引：27

作者：

Biancheri, Roberta ^{[1
]}

Cassandrini, Denise ^{[2
]}

Pinto, Francesca ^{[1
]}

Trovato, Rosanna ^{[2
]}

Di Rocco, Maja ^{[3
]}

Mirabelli-Badenier, Marisol ^{[1
]}

Pedemonte, Marina ^{[1
]}

Panicucci, Chiara ^{[1
]}

Trucks, Holger ^{[4
]}

Sander, Thomas ^{[4
]}

Zara, Federico ^{[1
]}

Rossi, Andrea ^{[5
]}

Striano, Pasquale ^{[1
,6
,7
]}

Minetti, Carlo ^{[1
,6
,7
]}

Santorelli, Filippo Maria ^{[2
]}

机构：

[1] Ist Giannina Gaslini, Dept Neurosci, I-16147 Genoa, Italy

[2] IRCCS Stella Maris, Mol Med Unit, Pisa, Italy

[3] Ist Giannina Gaslini, Unit Rare Disorders, I-16147 Genoa, Italy

[4] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany

[5] Ist Giannina Gaslini, Pediat Neuroradiol Unit, I-16147 Genoa, Italy

[6] Univ Genoa, Pediat Neurol & Muscular Dis Unit, Genoa, Italy

[7] Ist Giannina Gaslini, I-16147 Genoa, Italy

来源：

JOURNAL OF NEUROLOGY | 2013年 / 260卷 / 07期

关键词：

Pontocerebellar hypoplasia; Spinal muscular atrophy; Magnetic resonance imaging; EXOSC3; PONTOCEREBELLAR HYPOPLASIA; RNA DEGRADATION; MOTOR-NEURON; BRAIN-STEM; EXOSOME; DEGENERATION; COMPLEXES; ATROPHY; ONSET;

D O I：

10.1007/s00415-013-6896-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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.

引用

页码：1866 / 1870

页数：5

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