HapticV1, PascalFrancis, Curation, bibRecord, 000645

Vestibular dysfunction of patients with mutations of Connexin 26

Identifieur interne : 000645 ( PascalFrancis/Curation ); précédent : 000644; suivant : 000646

Vestibular dysfunction of patients with mutations of Connexin 26

Auteurs : Ingo Todt [Allemagne] ; Hans Christian Hennies [Allemagne] ; Dietmar Basta [Allemagne] ; Arne Ernst [Allemagne]

Source :

Neuroreport : (Oxford) [ 0959-4965 ] ; 2005.

RBID : Pascal:05-0370417

Descripteurs français

Pascal (Inist)
- Mutation, Connexine, Jonction communicante, Système vestibulaire, Potentiel évoqué, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Connexin, Evoked potential, Gap junction, Human, Mutation, Vestibular system.

Abstract

The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.

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A08	`01`	`1`	`ENG`	`@1 Vestibular dysfunction of patients with mutations of Connexin 26`
A11	`01`	`1`		`@1 TODT (Ingo)`
A11	`02`	`1`		`@1 HENNIES (Hans Christian)`
A11	`03`	`1`		`@1 BASTA (Dietmar)`
A11	`04`	`1`		`@1 ERNST (Arne)`
A14	`01`			`@1 Department of Otolaryngology at UKB, Hospital of the University of Berlin (Charité Medical School) @2 Berlin @3 DEU @Z 1 aut. @Z 3 aut. @Z 4 aut.`
A14	`02`			`@1 Department of Molecular Genetics and Gene Mapping, Max Delbrück Center for Molecular Medicine @2 Berlin @3 DEU @Z 2 aut.`
A20				`@1 1179-1181`
A21				`@1 2005`
A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 25 ref.`
A47	`01`	`1`		`@0 05-0370417`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Neuroreport : (Oxford)`
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C01	`01`		`ENG`	@0 The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.
C02	`01`	`X`		`@0 002A25E`
C02	`02`	`X`		`@0 002A25H`
C03	`01`	`X`	`FRE`	`@0 Mutation @5 01`
C03	`01`	`X`	`ENG`	`@0 Mutation @5 01`
C03	`01`	`X`	`SPA`	`@0 Mutación @5 01`
C03	`02`	`X`	`FRE`	`@0 Connexine @5 02`
C03	`02`	`X`	`ENG`	`@0 Connexin @5 02`
C03	`02`	`X`	`SPA`	`@0 Connexina @5 02`
C03	`03`	`X`	`FRE`	`@0 Jonction communicante @5 03`
C03	`03`	`X`	`ENG`	`@0 Gap junction @5 03`
C03	`03`	`X`	`SPA`	`@0 Unión comunicante @5 03`
C03	`04`	`X`	`FRE`	`@0 Système vestibulaire @5 04`
C03	`04`	`X`	`ENG`	`@0 Vestibular system @5 04`
C03	`04`	`X`	`SPA`	`@0 Sistema vestibular @5 04`
C03	`05`	`X`	`FRE`	`@0 Potentiel évoqué @5 05`
C03	`05`	`X`	`ENG`	`@0 Evoked potential @5 05`
C03	`05`	`X`	`SPA`	`@0 Potencial evocado @5 05`
C03	`06`	`X`	`FRE`	`@0 Homme @5 54`
C03	`06`	`X`	`ENG`	`@0 Human @5 54`
C03	`06`	`X`	`SPA`	`@0 Hombre @5 54`
C07	`01`	`X`	`FRE`	`@0 Jonction cellulaire @5 20`
C07	`01`	`X`	`ENG`	`@0 Cell junction @5 20`
C07	`01`	`X`	`SPA`	`@0 Unión celular @5 20`
C07	`02`	`X`	`FRE`	`@0 Oreille interne @5 21`
C07	`02`	`X`	`ENG`	`@0 Inner ear @5 21`
C07	`02`	`X`	`SPA`	`@0 Oido interno @5 21`
C07	`03`	`X`	`FRE`	`@0 Electrophysiologie @5 22`
C07	`03`	`X`	`ENG`	`@0 Electrophysiology @5 22`
C07	`03`	`X`	`SPA`	`@0 Electrofisiología @5 22`
C07	`04`	`X`	`FRE`	`@0 Appareil auditif @5 23`
C07	`04`	`X`	`ENG`	`@0 Organ of hearing @5 23`
C07	`04`	`X`	`SPA`	`@0 Aparato auditivo @5 23`
N21				`@1 255`

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Pascal:05-0370417

Le document en format XML

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<front><div type="abstract" xml:lang="en">The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.</div>
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<fC01 i1="01" l="ENG"><s0>The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.</s0>
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Vestibular dysfunction of patients with mutations of Connexin 26

Vestibular dysfunction of patients with mutations of Connexin 26

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Descripteurs français

English descriptors

Abstract

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