9/23/2023 0 Comments Hearing neuropathyLoss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. The diverse roles of ribbon synapses in sensory neurotransmission. Phenotypic characterization of hereditary hearing impairment linked to DFNA25. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene ( OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Prevalence of auditory neuropathy/synaptopathy in a population of children with profound hearing loss. Clinical findings for a group of infants and young children with auditory neuropathy. Prevalence of auditory neuropathy spectrum disorder in an auditory health care service. in The Senses: A Comprehensive Reference Vol 3. Newborn Hearing Screening Programme England), (2004). Assessment and management of auditory neuropathy/auditory dys-synchrony: a recommended protocol. Diagnostik und therapie der auditorischen synaptopathie/neuropathie. Perceptual consequences of disrupted auditory nerve activity. Zeng, F.-G., Kong, Y.-Y., Michalewski, H. Starr and colleagues first coined the term 'auditory neuropathy' and provided a detailed auditory phenotype for hereditary sensory and motor neuropathy. Primary ear and hearing care training resource. This Review provides an update on recently elucidated sensory, synaptic and neural mechanisms of hearing impairment, their corresponding clinical findings, and discusses current rehabilitation strategies as well as future therapies. This mechanism probably contributes to hearing disorders caused by noise exposure or age-related hearing loss. Moreover, animal studies have demonstrated that sound overexposure causes excitotoxic loss of IHC ribbon synapses. Human genetic and physiological studies, as well as research on animal models, have recently shown that disrupted IHC ribbon synapse function - resulting from genetic alterations that affect presynaptic glutamate loading of synaptic vesicles, Ca 2+ influx, or synaptic vesicle exocytosis - leads to hearing impairment termed 'auditory synaptopathy'. This type of hearing impairment can be caused by damage to the sensory inner hair cells (IHCs), IHC ribbon synapses or spiral ganglion neurons. This term was originally coined for a specific type of hearing impairment affecting speech comprehension beyond changes in audibility: patients with this condition report that they “can hear but cannot understand”. Hearing impairment caused by abnormal neural encoding of sound stimuli despite preservation of sensory transduction and amplification by outer hair cells is known as 'auditory neuropathy'. Sensorineural hearing impairment is the most common form of hearing loss, and encompasses pathologies of the cochlea and the auditory nerve.
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