Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Choi, Ji Eun; Seok, Jin Myoung; Ahn, Jong Hyeon; Ji, Yoon Sang; Lee, Kyung Myun; Hong, Sung Hwa; Choi, Byung‐Ok; Moon, Il Joon

doi:10.1038/s41598-018-28501-y

Cited by 27 publications

(39 citation statements)

References 31 publications

(34 reference statements)

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“…2a). However, damage to auditory nerve axons and their myelin sheaths would have profound effects on the formation of a detectable averaged compound action potential [4,5,[33][34][35]. Alterations in the synchrony of discharges with the demyelination of the auditory nerve fibers might result in changes in both the amplitude and duration of the averaged nerve responses (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Temporal resolution was assessed using a temporal modulation detection test. The temporal modulation detection test was administered using previously described procedures [4,[23][24][25]. Modulated and unmodulated signals were presented monoaurally through an insert earphone (ER-3A, Etymotic Research, Inc., Elk Grove Village, IL, USA) at 65 dBA.…”

Section: Auditory Temporal Processingmentioning

confidence: 99%

“…Spectral resolution was assessed using a spectral-ripple discrimination (SRD) test. The SRD thresholds were determined with stimuli based on a previously established technique [4,27,28]. Three rippled noise tokens, two with a standard ripple phase (reference stimulus) and one with an inverted ripple phase (test stimulus), were presented monoaurally through an insert earphone at 65 dBA.…”

Section: Auditory Spectral Processingmentioning

confidence: 99%

“…Hearing difficulty is also relatively common in CMT disease [4][5][6][7]. Because the cochlear nerve is comprised of peripheral nerve endings, auditory neuropathy due to the demyelinating process and/or axonopathy is known to affect the neural representation of acoustic signals [4,5,8]. Hearing is usually assessed by using pure-tone audiometry, which measures the smallest detectable levels of pure tones.…”

Section: Introductionmentioning

confidence: 99%

“…To date, auditory-processing deficits have not been widely explored in patients with CMT disease with normal sound-detection ability [4,5,7]. No studies have explored FFRs to speech in CMT disease.…”

Section: Introductionmentioning

confidence: 99%

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Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A

Choi

Seol

Seok

et al. 2020

Euro J of Neurology

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Background and purpose Hidden hearing loss has been reported in patients with Charcot‐Marie‐Tooth (CMT) disease; however, the auditory‐processing deficits have not been widely explored. We investigated the psychoacoustic and neurophysiological aspects of auditory processing in patients with CMT disease type 1A (CMT1A) and type 2A (CMT2A). Methods A total of 43 patients with CMT1A and 15 patients with CMT2A were prospectively enrolled. All patients with CMT disease had normal sound‐detection ability by using pure‐tone audiometry. Spectral‐ripple discrimination, temporal modulation detection and auditory frequency‐following response were compared between CMT1A, CMT2A and control groups. Results Although all participants had normal audiograms, patients with CMT disease had difficulty understanding speech in noise. The psychoacoustic auditory processing was somewhat different depending on the underlying pathophysiology of CMT disease. Patients with CMT1A had degraded auditory temporal and spectral processing. Patients with CMT2A had no reduced spectral resolution, but they showed further reduced temporal resolution than the patients with CMT1A. The amplitudes of the frequency‐following response were reduced in patients with CMT1A and CMT2A, but the neural timing remained relatively intact. Conclusions When we first assessed the neural representation to speech at the brainstem level, the grand average brainstem responses were reduced in both patients with CMT1A and CMT2A compared with healthy controls. As the psychoacoustic aspects of auditory dysfunctions in CMT1A and CMT2A were somewhat different, it is necessary to consider future auditory rehabilitation methods based on their pathophysiology.

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Section: Discussionmentioning

confidence: 99%

Section: Auditory Temporal Processingmentioning

confidence: 99%

Section: Auditory Spectral Processingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A

Choi

Seol

Seok

et al. 2020

Euro J of Neurology

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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Wang

Davison

Wang

et al. 2019

Ann Clin Transl Neurol

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ObjectiveDevelopment of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518–3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.MethodsWe used the Olink immuno PCR platform to profile CMT1A patient (n = 47, 2 cohorts) and normal control plasma (n = 41, two cohorts) on five different Olink panels to screen 398 unique proteins.ResultsThe TMPRSS5 protein (Transmembrane protease serine 5) was elevated 2.07‐fold (P = <0.0001) in two independent cohorts of CMT1A samples relative to controls. TMPRSS5 is most highly expressed in Schwann cells of peripheral nerve. Consistent with early myelination deficits in CMT1A, TMPRSS5 was not significantly correlated with disease score (CMTES‐R, CMTNS‐R), nerve conduction velocities (Ulnar CMAP, Ulnar MNCV), or with age. TMPRSS5 was not significantly elevated in smaller sample sets from patients with CMT2A, CMT2E, CMT1B, or CMT1X. The Olink immuno PCR assays confirmed elevated levels of NfL (average 1.58‐fold, P < 0.0001), which correlated with CMT1A patient disease score.InterpretationThese data identify the first Schwann cell‐specific protein that is elevated in plasma of CMT1A patients, and may provide a disease marker and a potentially treatment‐responsive biomarker with good disease specificity for clinical trials.

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Axon–glia interactions in the ascending auditory system

Kohrman

Borges

Cassinotti

et al. 2021

Developmental Neurobiology

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The auditory system detects and encodes sound information with high precision to provide a high-fidelity representation of the environment and communication.In mammals, detection occurs in the peripheral sensory organ (the cochlea) containing specialized mechanosensory cells (hair cells) that initiate the conversion of sound-generated vibrations into action potentials in the auditory nerve. Neural activity in the auditory nerve encodes information regarding the intensity and frequency of sound stimuli, which is transmitted to the auditory cortex through the ascending neural pathways. Glial cells are critical for precise control of neural conduction and synaptic transmission throughout the pathway, allowing for the precise detection of the timing, frequency, and intensity of sound signals, including the sub-millisecond temporal fidelity is necessary for tasks such as sound localization, and in humans, for processing complex sounds including speech and music. In this review, we focus on glia and glia-like cells that interact with hair cells and neurons in the ascending auditory pathway and contribute to the development, maintenance, and modulation of neural circuits and transmission in the auditory system. We also discuss the molecular mechanisms of these interactions, their impact on hearing and on auditory dysfunction associated with pathologies of each cell type.

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Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Cited by 27 publications

References 31 publications

Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A

Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Axon–glia interactions in the ascending auditory system

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