Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.
Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.
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DOI：
10.3389/fneur.2021.708395
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发表时间：
2021
影响因子：
3.4
通讯作者：
Popratiloff A
中科院分区：
文献类型：
--
作者：
Peusner KD;Bell NM;Hirsch JC;Beraneck M;Popratiloff A
在先天性前庭障碍（CVD）中，儿童在出生前出现内耳异常，出生后面临保持姿势、平衡、行走、眼手协调、眼动跟踪或阅读的挑战。从颞骨的临床成像或颞骨的组织学切片研究中获得的内耳病理学信息有限。更全面和精确的评估和确定的潜在机制需要在细胞水平上的疾病的分析，这可以实现使用动物模型。合适的动物模型的两个主要标准是，第一，反映人类疾病的病理学，第二，导致统计功效的可重复实验结果。有超过40个基因影响内耳发育，先天性前庭疾病（CVD）导致的表型异常是高度可变的。尽管如此，仍有一个大的CVD子集形成了一种常见的囊状内耳表型，其中半规管缺失或发育不良，以及前庭感觉器官的离散异常。我们的综述集中在这一子集上，但为了推进对心血管疾病的研究，我们增加了其他不形成囊状内耳的心血管疾病。我们已经包括了用于研究这些CVD的动物模型的例子。目前，除了对鸡模型的初步研究显示二级前庭反射投射神经元的显著损失外，对中央前庭神经网络中细胞水平上由CVD引起的中央病理学知之甚少。
In congenital vestibular disorders (CVDs), children develop an abnormal inner ear before birth and face postnatal challenges to maintain posture, balance, walking, eye-hand coordination, eye tracking, or reading. Only limited information on inner ear pathology is acquired from clinical imaging of the temporal bone or studying histological slides of the temporal bone. A more comprehensive and precise assessment and determination of the underlying mechanisms necessitate analyses of the disorders at the cellular level, which can be achieved using animal models. Two main criteria for a suitable animal model are first, a pathology that mirrors the human disorder, and second, a reproducible experimental outcome leading to statistical power. With over 40 genes that affect inner ear development, the phenotypic abnormalities resulting from congenital vestibular disorders (CVDs) are highly variable. Nonetheless, there is a large subset of CVDs that form a common phenotype of a sac-like inner ear with the semicircular canals missing or dysplastic, and discrete abnormalities in the vestibular sensory organs. We have focused the review on this subset, but to advance research on CVDs we have added other CVDs not forming a sac-like inner ear. We have included examples of animal models used to study these CVDs. Presently, little is known about the central pathology resulting from CVDs at the cellular level in the central vestibular neural network, except for preliminary studies on a chick model that show significant loss of second-order, vestibular reflex projection neurons.
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影响因子：
3.6
作者：
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通讯作者：
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影响因子：
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