Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.
Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.
复制标题
勘误：巨大轴突神经病 (GAN) KO 小鼠自主神经系统受累：对人类疾病的影响。
DOI：
10.1007/s10286-016-0371-9
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Gray,StevenJ
中科院分区：
文献类型：
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作者：
Armao,Diane;Bailey,RachelM;Bouldin,ThomasW;Kim,Yongbaek;Gray,StevenJ
目的巨轴索神经病（GAN）是一种遗传性的严重感觉运动神经病。本研究的目的是探讨两种GAN基因敲除（KO）小鼠模型的神经病理学特征和临床自主神经系统（ANS）表型。ANS参与GAN在人类中知之甚少，但自主神经的体征和症状，通常报告在幼儿期。MethodsRoutine组织学和免疫组化进行GAN KO小鼠标本在不同年龄。通过量化GAN KO小鼠排便的频率、重量和含水量来评估肠道功能障碍。结果GAN KO小鼠肠道、副交感神经和交感神经ANS的组织学检查显示明显且广泛的神经元核周中间丝内含物。这些神经元包涵体在年轻的GAN KO小鼠中作为GAN的容易识别的早期标记。功能研究确定了一个年龄依赖性的改变，在GAN KO小鼠的粪便重量和排便频率。ConclusionsFor第一次在GAN KO小鼠模型，我们描述了早期，明显和广泛的神经病理学特征，涉及ANS。此外，我们提供了GAN KO小鼠中临床自主表型的证据，反映在异常的胃肠道功能中。在GAN KO小鼠中的这些发现表明，应考虑ANS参与人类GAN，特别是在考虑治疗和患者护理时。
PurposeGiant axonal neuropathy (GAN) is an inherited severe sensorimotor neuropathy. The aim of this research was to investigate the neuropathologic features and clinical autonomic nervous system (ANS) phenotype in two GAN knockout (KO) mouse models. Little is known about ANS involvement in GAN in humans, but autonomic signs and symptoms are commonly reported in early childhood.MethodsRoutine histology and immunohistochemistry was performed on GAN KO mouse specimens taken at various ages. Enteric dysfunction was assessed by quantifying the frequency, weight, and water content of defecation in GAN KO mice.ResultsHistological examination of the enteric, parasympathetic and sympathetic ANS of GAN KO mice revealed pronounced and widespread neuronal perikaryal intermediate filament inclusions. These neuronal inclusions served as an easily identifiable, early marker of GAN in young GAN KO mice. Functional studies identified an age-dependent alteration in fecal weight and defecation frequency in GAN KO mice.ConclusionsFor the first time in the GAN KO mouse model, we described the early, pronounced and widespread neuropathologic features involving the ANS. In addition, we provided evidence for a clinical autonomic phenotype in GAN KO mice, reflected in abnormal gastrointestinal function. These findings in GAN KO mice suggest that consideration should be given to ANS involvement in human GAN, especially when considering treatments and patient care.