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In 2014 radiologic lesions were detected at one or more semicircular canals using CT and MR imaging of temporal bone in subjects carrying the p.P51S mutation in COCH. These lesions are believed to present at more advanced stages of the hearing and vestibular deterioration. Since then, other authors have described similar lesions in advanced non-genetic hearing and vestibular impairment as well.
The purpose of this study is therefore to assess the radiologic investigation using CT and MR imaging of temporal bone to all subjects presenting with bilateral vestibulopathy, using the Barany criteria, compared to the p.P51S population.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| study group | all patients at least 18 years of age who present bilateral vestibulopathy on vestibular investigations according to the Barany criteria |
| |
| control group | DFNA9 patients carrying the p.P51S mutation in COCH gene presenting bilateral vestibulopathy according to the Barany criteria |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| vestibular test 1 | Diagnostic Test | videonystagmography |
| |
| Measure | Description | Time Frame |
|---|---|---|
| CT and MR findings | presence of focal sclerosis or signal loss on CT & MR at one or more semicircular canals | at time of recruitment |
| genetic test | p.P51S mutation in COCH gene | at time of recruitment |
| Measure | Description | Time Frame |
|---|---|---|
| vestibular test 1 | video nystagmography using caloric tests ; caloric tests: °/s | at time of recruitment |
| vestibular test 2 | video head impulse test; gain for each SCC in °/s |
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Inclusion Criteria:
Exclusion Criteria:
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all patients presenting at our Department of ENT with vestibular or balance disorders, in whom videonystagmography, video head impulse test and VEMP tests meet the Barany criteria for bilateral vestibulopathy.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| sebastien p JanssensdeVarebeke, MD | Contact | 011337420 | drsjanssens@gmail.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Jessa Hospital | Recruiting | Hasselt | Limburg | 3500 | Belgium |
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from all patients presenting bilateral vestibulopathy samples will be taken to investigate presence of p.P51S mutation in COCH
| vestibular test 2 |
| Diagnostic Test |
video head impulse test |
|
| vestibular evoked myogenic potentials | Diagnostic Test | vestibular evoked myogenic potentials to measure the function of otolith organs |
|
| audiometry | Diagnostic Test | tonal liminar audiometric thresholds |
|
| CT and MR imaging of temporal bone | Diagnostic Test | Ct and MR imaging of temporal bone |
|
| p.P51S mutation | Genetic | analysis of presence of p.P51S mutation in COCH |
|
| at time of recruitment |
| vestibular test 3 | vestibular evoked myogenic potentials: threshold in decibel normal hearing loss (dB nHL) | at time of recruitment |
| audiometry | tonal liminar audiometry using calibrated audiometer, threshold in dB HL | at time of recruitment |
| ID | Term |
|---|---|
| D006319 | Hearing Loss, Sensorineural |
| D000071699 | Bilateral Vestibulopathy |
| ID | Term |
|---|---|
| D034381 | Hearing Loss |
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D015837 | Vestibular Diseases |
| D007759 | Labyrinth Diseases |
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| ID | Term |
|---|---|
| D058585 | Vestibular Evoked Myogenic Potentials |
| D001299 | Audiometry |
| ID | Term |
|---|---|
| D019054 | Evoked Potentials, Motor |
| D005071 | Evoked Potentials |
| D000071080 | Cortical Excitability |
| D055724 | Electrophysiological Phenomena |
| D010829 | Physiological Phenomena |
| D006320 | Hearing Tests |
| D003939 | Diagnostic Techniques, Otological |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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