Auditory nerve is affected in one of two different point mutations of the neurofilament light gene

Butinar, Dusan; Starr, Arnold; Zidar, Janez; Koutsou, Pantelitsa; Christodoulou, Kyproula

doi:10.1016/j.clinph.2007.10.004

Cited by 22 publications

(17 citation statements)

References 42 publications

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“…Additionally, as aberrations in NFs may result from inherited disorders, as has been shown for e.g. CharcoteMarieeTooth disease (Butinar et al, 2008), genes encoding for proteins that regulate or interact with NFs should be considered as candidate genes for sensorineural hearing loss (Jordanova et al, 2003;Fabrizi et al, 2007;Nalini et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Neurofilament localization and phosphorylation in the developing inner ear of the rat

2010

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Section: Discussionmentioning

confidence: 99%

Neurofilament localization and phosphorylation in the developing inner ear of the rat

2010

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“…intense noise exposure, drug-related otoxicity), large individual differences in test performance limit the generalizability of this concept for taxonomy purposes. Empirical evidence from tests using monosyllabic words (conducted either in quiet or in the presence of background noise) or synthetic sentences (under ipsilateral and contralateral competing message conditions) indicates that performances can range anywhere from normal to disproportionately poor [Butinar et al, 2007;Hood and Berlin, 2003;Rance et al, 2008Rance et al, , 2010Satya-Murti et al, 1979Starr et al, 1996;Zeng et al, 1999]. Abnormalities associated with the acoustic stapedius reflex (absence of response, elevated thresholds, or significant decay) and efferent system dysfunction [measured by otoacoustic emission (OAE) suppression paradigms] can also be manifest [Abdala et al, 2000;Berlin et al, 2005;SatyaMurti et al, 1980;Starr et al, 1991].…”

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confidence: 99%

“…Defects in neurofilament (NF) assembly perturb and/or restrict movement of mitochondria, disrupt axonal transport, and impair metabolic energy supply at distal regions of axons and dendrites. These factors contribute directly to the onset and progression of neuropathies associated with CMT disease [Brownlees et al, 2002;Perez-Olle et al, 2005;Roy et al, 2005;Suter and Scherer, 2003] including auditory system dysfunction [Butinar et al, 2007;Fabrizi et al, 2006].…”

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confidence: 99%

“…Fabrizi et al [2006] showed that 4 of 9 individuals with mutations in the NF-L gene had distinct ABR abnormalities characterized by desynchronized waveforms. Furthermore, Butinar et al [2007] made the discovery that different point mutations in the same NF-L gene can differentially affect whether or not AN is expressed. When comparisons were made between 2 families with different point mutations of the NF-L gene (Glu39Lys vs. Pro22Ser), the Glu39Lys mutation manifested as an AN (n = 8), whereas family members with the Pro22Ser point mutation did not express this trait (n = 9).…”

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The Mitochondrial Connection in Auditory Neuropathy

Cacace

Pinheiro

2011

Audiol Neurotol

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‘Auditory neuropathy’ (AN), the term used to codify a primary degeneration of the auditory nerve, can be linked directly or indirectly to mitochondrial dysfunction. These observations are based on the expression of AN in known mitochondrial-based neurological diseases (Friedreich’s ataxia, Mohr-Tranebjærg syndrome), in conditions where defects in axonal transport, protein trafficking, and fusion processes perturb and/or disrupt mitochondrial dynamics (Charcot-Marie-Tooth disease, autosomal dominant optic atrophy), in a common neonatal condition known to be toxic to mitochondria (hyperbilirubinemia), and where respiratory chain deficiencies produce reductions in oxidative phosphorylation that adversely affect peripheral auditory mechanisms. This body of evidence is solidified by data derived from temporal bone and genetic studies, biochemical, molecular biologic, behavioral, electroacoustic, and electrophysiological investigations.

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“…We know that the tests used to diagnose AN can improve in some children [20]. Moreover, adults fulfi lling the criteria for AN can be asymptomatic [21] or only symptomatic under certain conditions [22,23]. Such exceptions test the rule that implants should be used in AN without behavioral evidence of impaired auditory temporal processing.…”

Section: The Third Lesson Is From Genetics: "An Is a Many-splendored mentioning

confidence: 99%

“Hearing” and Auditory Neuropathy: Lessons from Patients, Physiology, and Genetics

Starr

2009

Neuropathies of the Auditory and Vestibular Eighth Cranial Nerves

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SummaryI review auditory neuropathy (AN), an auditory temporal processing disorder, drawing upon lessons from patients, from temporal bones and peripheral nerves, and from the genetics of the disorder. The auditory temporal processing disorder affects speech comprehension and localization of sounds that can be disabling. Audibility is typically not the majoy problem. The criteria for diagnosis are physiological and include (1) abnormal auditory nerve function refl ected by absent or abnormal auditory brainstem responses (ABRs) and (2) normal cochlear outer hair cell functions refl ected by cochlear microphonics (CMs) and/or otoacoustic emissions (OAEs). The tests are relatively simple, and the results are typically unambiguous, encouraging the recognition of AN from diverse etiologies. The cochlear sites that are affected include auditory nerve, inner hair cells, or their synapses. Type I AN is a postsynaptic disorder involving both the number and functions of auditory nerves; Type II AN is a presynaptic disorder affecting inner hair cells' ability to form and/or release neurotransmitters. Inherited forms of AN are diverse. Temporal bone studies of postsynaptic forms of AN show a marked loss of auditory nerve fi bers with accompanying demyelination whereas both the number and morphology of inner and outer hair cells are preserved. There are as yet no temporal bone studies of presynaptic forms of AN.

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Auditory nerve is affected in one of two different point mutations of the neurofilament light gene

Cited by 22 publications

References 42 publications

Neurofilament localization and phosphorylation in the developing inner ear of the rat

Neurofilament localization and phosphorylation in the developing inner ear of the rat

The Mitochondrial Connection in Auditory Neuropathy

“Hearing” and Auditory Neuropathy: Lessons from Patients, Physiology, and Genetics

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