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Magnetic Resonance Imaging and Histopathologic Findings From a Standard Poodle With Neonatal Encephalopathy With Seizures
Frontiers in Veterinary Science ( IF 2.6 ) Pub Date : 2020-10-01 , DOI: 10.3389/fvets.2020.578936
Yoshihiko Yu , Daisuke Hasegawa , James K. Chambers , Kazuhiro Kojima , Rikako Asada , Gary S. Johnson , Kazuyuki Uchida

Neonatal encephalopathy with seizures (NEwS) is an epileptic encephalopathy with an autosomal recessive inheritance pattern found in Standard Poodle puppies. The causal genetic variant for NEwS has been identified as a homozygous missense mutation in ATF2 (c.152T>G, p.Met51Arg), and a pathological cerebellar change has been reported. Magnetic resonance imaging showed reduced whole-brain size, dilated ventricles, developmental abnormalities of the white matter of the cerebrum, white matter signal abnormalities in the occipital lobe, and abnormal morphology of the cerebellum. Histopathology included previously unrecognized irregular neuronal migration in the subventricular zone around the lateral ventricles in the frontal lobe and white matter rarefaction especially at the level of the occipital lobe in the cerebrum in addition to the cerebellar cortical dysplasia that has been previously described. The findings of this case may highlight the critical role of ATF2 in neurodevelopmental processes in the canine brain.



中文翻译:

患有癫痫性脑病的标准贵宾犬的磁共振成像和组织病理学发现

新生儿癫痫性脑病(NEwS)是一种在标准贵宾犬幼犬中发现的具有常染色体隐性遗传模式的癫痫性脑病。NEwS的因果遗传变异已被鉴定为一个纯合子错义突变。ATF2(c.152T> G,p.Met51Arg),并且已经报道了病理性小脑改变。磁共振成像显示全脑缩小,脑室扩张,大脑白质发育异常,枕叶白质信号异常以及小脑形态异常。组织病理学包括除先前描述的小脑皮质发育异常外,额叶侧脑室周围的脑室下区域先前未被识别的不规则神经元迁移和白质稀疏,特别是在大脑枕叶水平。该案的调查结果可能突出了ATF2 在犬脑的神经发育过程中。

更新日期:2020-11-12
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