Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Related Articles

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Eur J Hum Genet. 2018 Sep 24;:

Authors: Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N

Abstract
Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function. Vestibulopathy is in most cases associated with migraine, Ménière disease, hereditary ataxias, or sensorineural hearing loss. We identified two brothers and their first cousin affected by hearing loss and episodic vertigo. The brothers were homozygous STRC nonsense variant [c.4027 C > T, p.(Q1343*)], whereas their first cousin was compound heterozygous for the STRC nonsense variant and a 97 kb deletion spanning the entire STRC gene. Clinical investigations confirmed pathological vestibular responses in addition to a characteristic DFNB16 hearing loss. The STRC gene encodes Stereocilin in the cochlea and in the vestibular organ where it ensheathes the kinocilium of the otolithic membranes. Stereocilin is associated with the gel overlaying the vestibular kinocilia, suggesting a role for the protein in sensing balance and spatial orientation. Our findings support such a function for Stereocilin in the vestibular organ and expand the phenotype associated with DFNB16.

PMID: 30250054 [PubMed - as supplied by publisher]

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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Related Articles

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Eur J Hum Genet. 2018 Sep 24;:

Authors: Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N

Abstract
Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function. Vestibulopathy is in most cases associated with migraine, Ménière disease, hereditary ataxias, or sensorineural hearing loss. We identified two brothers and their first cousin affected by hearing loss and episodic vertigo. The brothers were homozygous STRC nonsense variant [c.4027 C > T, p.(Q1343*)], whereas their first cousin was compound heterozygous for the STRC nonsense variant and a 97 kb deletion spanning the entire STRC gene. Clinical investigations confirmed pathological vestibular responses in addition to a characteristic DFNB16 hearing loss. The STRC gene encodes Stereocilin in the cochlea and in the vestibular organ where it ensheathes the kinocilium of the otolithic membranes. Stereocilin is associated with the gel overlaying the vestibular kinocilia, suggesting a role for the protein in sensing balance and spatial orientation. Our findings support such a function for Stereocilin in the vestibular organ and expand the phenotype associated with DFNB16.

PMID: 30250054 [PubMed - as supplied by publisher]

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Clinical validity of novel postural stabilization experimental indexes based on hyperbolic transformation

Publication date: Available online 25 September 2018

Source: Gait & Posture

Author(s): Marco Rabuffetti, Tiziana Lencioni, Davide Cattaneo, Damiano D. Zemp, Pierluigi Quadri, Maurizio Ferrarin

Abstract

Background

Postural stabilization is the function which allows an individual, after a transitional movement, to recover balance in a quiet erect posture. An experimental method has been proposed [Rabuffetti 2011] and proved valid for the assessment of balance disorders in individuals with neurological diseases. It would seem that the two original indices were not fully independent since their concurrent distribution was confined by a hyperbolic boundary.

Research question

A methodological advancement involving non-linear transformation techniques is required to overcome the limitations of the original approach.

Methods

A hyperbolic transformation is applied to the original indices related to the mechanics of the stabilization (instability at beginning of stabilization and time rate of stabilization), thus defining two novel indices (Instability and Promptness). These novel indices may be related to different functional domains concerning, respectively, peripheral force capacity and central nervous motor control. The validity of these novel indices is quantified by their correlation with clinical scales in an already validated group of patients with Charcot-Marie-Tooth disease (N = 47) or Multiple Sclerosis (N = 20).

Results

The novel indices generally improved validity compared to the original indices (+66 % of indices show a statistically significant concurrent validity on a clinical scale). Moreover, Instability was more related to the Charcot-Marie-Tooth group (9 out of 12 valid correlations), and Promptness to the Multiple Sclerosis group (4 out of 5, when also considering statistical trends), in accordance to the, respectively, more peripheral and more central nature of the two neurological diseases.

Significance

The novel postural stabilization indices support a clinical application for two reasons: 1) they have shown improved validity, compared to the original indices, in two groups of patients affected by neurological pathologies of different nature, 2) they are more closely related, compared to the original indices, to different functional domains.

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Clinical validity of novel postural stabilization experimental indexes based on hyperbolic transformation

Publication date: Available online 25 September 2018

Source: Gait & Posture

Author(s): Marco Rabuffetti, Tiziana Lencioni, Davide Cattaneo, Damiano D. Zemp, Pierluigi Quadri, Maurizio Ferrarin

Abstract

Background

Postural stabilization is the function which allows an individual, after a transitional movement, to recover balance in a quiet erect posture. An experimental method has been proposed [Rabuffetti 2011] and proved valid for the assessment of balance disorders in individuals with neurological diseases. It would seem that the two original indices were not fully independent since their concurrent distribution was confined by a hyperbolic boundary.

Research question

A methodological advancement involving non-linear transformation techniques is required to overcome the limitations of the original approach.

Methods

A hyperbolic transformation is applied to the original indices related to the mechanics of the stabilization (instability at beginning of stabilization and time rate of stabilization), thus defining two novel indices (Instability and Promptness). These novel indices may be related to different functional domains concerning, respectively, peripheral force capacity and central nervous motor control. The validity of these novel indices is quantified by their correlation with clinical scales in an already validated group of patients with Charcot-Marie-Tooth disease (N = 47) or Multiple Sclerosis (N = 20).

Results

The novel indices generally improved validity compared to the original indices (+66 % of indices show a statistically significant concurrent validity on a clinical scale). Moreover, Instability was more related to the Charcot-Marie-Tooth group (9 out of 12 valid correlations), and Promptness to the Multiple Sclerosis group (4 out of 5, when also considering statistical trends), in accordance to the, respectively, more peripheral and more central nature of the two neurological diseases.

Significance

The novel postural stabilization indices support a clinical application for two reasons: 1) they have shown improved validity, compared to the original indices, in two groups of patients affected by neurological pathologies of different nature, 2) they are more closely related, compared to the original indices, to different functional domains.

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