Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.
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DOI：
10.1186/gm212
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发表时间：
2010-12-22
期刊：
影响因子：
12.3
通讯作者：
Santarelli R
中科院分区：
文献类型：
--
作者：
Santarelli R
听神经病(AN)是一种以听神经(突触后AN)、内毛细胞和/或与听神经末梢(突触前AN)突触有关的病变引起的听神经活动中断的疾病。受影响的受试者表现出超出听力损失预期的言语感知障碍，听觉脑干电位异常和外毛细胞活动保留。此外，AN可被识别为孤立性疾病或与包括周围神经和视神经病变在内的多系统受累的相关疾病(非孤立性AN)。几个核基因和线粒体基因的突变已被确定为这些形式的AN的潜在原因。最近，新的基因被发现与分离的(DIAPH3，OTOF)和非分离的AN(OPA1)有关。此外，对于有特定基因突变的患者，通过人工耳蜗植入，使用声刺激或电刺激，也可以记录到异常的耳蜗电位。在这篇综述中，讨论了不同类型的基于遗传的听神经病，并对AN的分子机制进行了综述。
Auditory neuropathy (AN) is a disorder characterized by disruption of auditory nerve activity resulting from lesions involving the auditory nerve (postsynaptic AN), inner hair cells and/or the synapses with auditory nerve terminals (presynaptic AN). Affected subjects show impairment of speech perception beyond that expected for the hearing loss, abnormality of auditory brainstem potentials and preserved outer hair-cell activities. Furthermore, AN can be identified either as an isolated disorder or as an associated disorder with multisystem involvement including peripheral and optic neuropathies (non-isolated AN). Mutations in several nuclear and mitochondrial genes have been identified as underlying these forms of AN. Recently, new genes have been identified as involved in both isolated (DIAPH3, OTOF) and non-isolated AN (OPA1). Moreover, abnormal cochlear potentials have been recorded from patients with specific gene mutations by using acoustic stimuli or electrical stimulation through cochlear implant. In this review, different types of genetically based auditory neuropathies are discussed and the proposed molecular mechanisms underlying AN are reviewed.
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影响因子：
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