Genetics of Recurrent Vertigo and Vestibular Disorders

Gázquez, Irene; Lopez-Escamez, José A.

doi:10.2174/138920211797248600

Cited by 35 publications

(24 citation statements)

References 75 publications

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“…Nonetheless, a very few age-related conditions of reduced vestibular function that can manifest in the elderly have been genetically characterized recently, and are reported below. 8,[31][32][33] Data on humans Familial episodic ataxia. Familial episodic ataxias are monogenic recurrent vertigo syndromes.…”

Section: Genetics Of Presbystasismentioning

confidence: 99%

“…However, episodic ataxia type 4 and 5 have been described to involve adults aged >50 years. 8,[31][32][33] Episodic ataxia 4 locus has not yet been identified, while episodic ataxia 5 has been linked to mutations in the calcium channel b4 subunit CACNB4, on chromosome 2q22-23. 8,[31][32][33] Vestibular migraine.…”

Section: Genetics Of Presbystasismentioning

confidence: 99%

“…8,[31][32][33] Episodic ataxia 4 locus has not yet been identified, while episodic ataxia 5 has been linked to mutations in the calcium channel b4 subunit CACNB4, on chromosome 2q22-23. 8,[31][32][33] Vestibular migraine. Vestibular migraine, a common cause of spontaneous recurrent vertigo, consists of recurrent episodes of vestibular symptoms with current or previous history of migraine.…”

Section: Genetics Of Presbystasismentioning

confidence: 99%

“…Genomewide analyses have revealed linkage to chromosome 5q35, 11q and 22q12. 8,[31][32][33][34][35][36] Bilateral vestibular hypofunction. Bilateral vestibular hypofunction without hearing loss, also referred to as bilateral vestibulopathy, has been described in adult members of families without migraine and has been linked to chromosome 6q.…”

Section: Genetics Of Presbystasismentioning

confidence: 99%

“…Bilateral vestibular hypofunction without hearing loss, also referred to as bilateral vestibulopathy, has been described in adult members of families without migraine and has been linked to chromosome 6q. 8,[31][32][33][34][35][36][37] Ménière's disease. Familial Ménière's disease is a complex disease characterized by episodic vertigo, fluctuating hearing loss and tinnitus.…”

Section: Genetics Of Presbystasismentioning

confidence: 99%

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Genetics of presbycusis and presbystasis

Ciorba

Hatzopoulos

Bianchini

et al. 2015

Int J Immunopathol Pharmacol

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Presbycusis and presbystasis represent relevant problems of aging, caused by the increase in life expectancy in developed countries. As such, it is advantageous to better understand the physiopathological mechanisms of these age-related inner ear diseases. The hypothesis that presbycusis and presbystasis have a genetic background was proposed some years ago. Several studies (in humans and animals) are available in the literature, and possible genes involved in the physiopathology of both diseases have been identified. The aim of this paper is to present an overview of the information available in the current medical literature on presbycusis and presbystasis.

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Section: Genetics Of Presbystasismentioning

confidence: 99%

Section: Genetics Of Presbystasismentioning

confidence: 99%

Section: Genetics Of Presbystasismentioning

confidence: 99%

Section: Genetics Of Presbystasismentioning

confidence: 99%

Section: Genetics Of Presbystasismentioning

confidence: 99%

See 3 more Smart Citations

Genetics of presbycusis and presbystasis

Ciorba

Hatzopoulos

Bianchini

et al. 2015

Int J Immunopathol Pharmacol

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Genetics of Cerebellar and Vestibular Disorders

Martín-Sierra

Requena

López-Escámez

2014

Encyclopedia of Life Sciences

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Cerebellar and vestibular disorders are two groups of rare diseases with overlapping phenotypes with a strong genetic component. Previous studies had shown familial aggregation and few genes had been identified by segregation in large pedigrees. So, causal genes have remained unknown until the recent advances in next‐generation sequencing technologies, including whole‐exome sequencing (WES) as well as different bioinformatics approaches to elucidate and increase the lists of rare variants and novel genes associated with these disorders. WES have defined new genes as CLIC5 causing of DFNB102 and novel variants in TGM6 , ELOVL4 or FXN genes associated with autosomal dominant and autosomal recessive hereditary ataxias. Vestibular disorders such as Meniere's disease or vestibular migraine also have a strong familial clustering with autosomal dominant inheritance, but no candidate genes have been identified in familial cases. Key Concepts: Cerebellar and vestibular disorders are two groups of rare diseases with a strong genetic component. The clinical heterogeneity and the very low frequency of the causal variants can explain the slow progress in the knowledge of molecular genetics of vestibular and cerebellar disorders. The bioinformatics analysis of rare variants and synonymous variants identified by NGS technology in multicase families is the best strategy to find out new genes associated with cerebellar and vestibular disorders. Different bioinformatics approaches are needed to elucidate the genetic basis of cerebellar and vestibular disorders in order to find out causal variants leading to the development of new treatments. A large number of causal mutations and genes will be described using NGS in vestibular and cerebellar disorders, but functional studies will be required to assess their impact on the phenotype.

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Kv2.1 voltage‐gated potassium channels in developmental perspective

Jędrychowska

Korzh

2019

Developmental Dynamics

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Kv2.1 voltage‐gated potassium channels consist of two types of α‐subunits: (a) electrically‐active Kcnb1 α‐subunits and (b) silent or modulatory α‐subunits plus β‐subunits that, similar to silent α‐subunits, also regulate electrically‐active subunits. Voltage‐gated potassium channels were traditionally viewed, mainly by electrophysiologists, as regulators of the electrical activity of the plasma membrane in excitable cells, a role that is performed by transmembrane protein domains of α‐subunits that form the electric pore. Genetic studies revealed a role for this region of α‐subunits of voltage‐gated potassium channels in human neurodevelopmental disorders, such as epileptic encephalopathy. The N‐ and C‐terminal domains of α‐subunits interact to form the cytoplasmic subunit of heterotetrameric potassium channels that regulate electric pores. Subsequent animal studies revealed the developmental functions of Kcnb1‐containing voltage‐gated potassium channels and illustrated their role during brain development and reproduction. These functions of potassium channels are discussed in this review in the context of regulatory interactions between electrically‐active and regulatory subunits.

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Genetics of Recurrent Vertigo and Vestibular Disorders

Cited by 35 publications

References 75 publications

Genetics of presbycusis and presbystasis

Genetics of presbycusis and presbystasis

Genetics of Cerebellar and Vestibular Disorders

Kv2.1 voltage‐gated potassium channels in developmental perspective

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