A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy - Rodríguez-Ballesteros - 2008 - Human Mutation. Otoferlin - Homo sapiens (Human) Human Gene OTOF (uc002rhk.2) Description and Page Index. 601071 - OMIM Results. The crystal structure of the C₂A domain of otofer... [J Mol Biol. 2011. OTOF-Related Deafness - GeneReviews - NCBI Bookshelf. Auditory neuropathy. Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea are present and functional, but sound information is not faithfully transmitted to the auditory nerve and brain properly.
Also known as Auditory Neuropathy/Auditory Dys-synchrony (AN/AD) or Auditory Neuropathy Spectrum Disorder (ANSD). A neuropathy usually refers to a disease of the peripheral nerve or nerves, but the auditory nerve itself is not always affected in Auditory Neuropathy Spectrum Disorders.[1] Possible Sites of Lesion[edit] Based on clinical testing of subjects with auditory neuropathy, the disruption in the stream of sound information has been localized to one or more of three probable locations: the inner hair cells of the cochlea, the synapse between the inner hair cells and the auditory nerve, or a lesion of the ascending auditory nerve itself.[2] Diagnosing Auditory Neuropathy[edit] Residual Auditory Function[edit] Screening[edit] See also[edit] References[edit] Auditory Neuropathy. On this page: What is auditory neuropathy?
Auditory neuropathy is a hearing disorder in which sound enters the inner ear normally but the transmission of signals from the inner ear to the brain is impaired. It can affect people of all ages, from infancy through adulthood. The number of people affected by auditory neuropathy is not known, but the condition affects a relatively small percentage of people who are deaf or hearing-impaired. People with auditory neuropathy may have normal hearing, or hearing loss ranging from mild to severe; they always have poor speech-perception abilities, meaning they have trouble understanding speech clearly.
Top What causes auditory neuropathy? Although auditory neuropathy is not yet fully understood, scientists believe the condition probably has more than one cause. What are the roles of the outer and inner hair cells? Outer hair cells help amplify sound vibrations entering the inner ear from the middle ear. Are there risk factors for auditory neuropathy? Auditory brainstem response. The auditory brainstem response (ABR) is an auditory evoked potential extracted from ongoing electrical activity in the brain and recorded via electrodes placed on the scalp.
The resulting recording is a series of vertex positive waves of which I through V are evaluated. These waves, labeled with Roman numerals in Jewett and Williston convention, occur in the first 10 milliseconds after onset of an auditory stimulus. The ABR is considered an exogenous response because it is dependent upon external factors.[1][2][3] The auditory structures that generate the auditory brainstem response are believed to be as follows:[2][4] Wave I through III – generated by the auditory branch of cranial nerve VIII and lower brainstemWave IV and V – generated by the upper brainstem History of ABR[edit] In 1967, Sohmer and Feinmesser were the first to publish ABRs recorded with surface electrodes in humans which showed that cochlear potentials could be obtained non-invasively.
ABR techniques[edit] History[edit] Otoferlin (OTOF) - Medpedia. GeneTests: Search Results.