Yu Yoshihiko, Hasegawa Daisuke, Chambers James K, Kojima Kazuhiro, Asada Rikako, Johnson Gary S, Uchida Kazuyuki
Laboratory of Veterinary Radiology, Nippon Veterinary and Life Science University, Tokyo, Japan.
The Research Center for Animal Life Science, Nippon Veterinary and Life Science University, Tokyo, Japan.
Front Vet Sci. 2020 Nov 10;7:578936. doi: 10.3389/fvets.2020.578936. eCollection 2020.
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 (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 in neurodevelopmental processes in the canine brain.
新生儿癫痫性脑病（NEwS）是一种常染色体隐性遗传模式的癫痫性脑病，在标准贵宾犬幼犬中发现。NEwS的致病基因变异已被确定为（c.152T>G，p.Met51Arg）中的纯合错义突变，并且已报道存在病理性小脑改变。磁共振成像显示全脑体积减小、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。组织病理学包括额叶侧脑室周围室管膜下区以前未被认识到的不规则神经元迁移，以及大脑枕叶水平的白质稀疏，此外还有先前描述过的小脑皮质发育异常。该病例的发现可能突出了[具体基因名称未给出]在犬脑神经发育过程中的关键作用。
