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Genetics of recurrent vertigo and vestibular disorders.

ABSTRACT: We present recent advances in the genetics of recurrent vertigo, including familial episodic ataxias, migraneous vertigo, bilateral vestibular hypofunction and Meniere's disease.Although several vestibular disorders are more common within families, the genetics of vestibulopathies is largely not known. Genetic loci and clinical features of familial episodic ataxias have been defined in linkage disequilibrium studies with mutations in neuronal genes KCNA1 and CACNA1A. Migrainous vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and migraine. Bilateral vestibular hypofunction is a heterogeneous clinical group defined by episodes of vertigo leading to progressive loss of vestibular function which also can include migraine. Meniere's disease is a clinical syndrome characterized by spontaneous episodes of recurrent vertigo, sensorineural hearing loss, tinnitus and aural fullness and familial Meniere's disease in around 10-20% of cases. An international collaborative effort to define the clinical phenotype and recruiting patients with migrainous vertigo and Meniere's disease is ongoing for genome-wide association studies.

SUBMITTER: Gazquez I

PROVIDER: S-EPMC3178912 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature

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Genetics of recurrent vertigo and vestibular disorders.

Gazquez Irene I Lopez-Escamez Jose A JA

Current genomics 20110901 6

We present recent advances in the genetics of recurrent vertigo, including familial episodic ataxias, migraneous vertigo, bilateral vestibular hypofunction and Meniere's disease.Although several vestibular disorders are more common within families, the genetics of vestibulopathies is largely not known. Genetic loci and clinical features of familial episodic ataxias have been defined in linkage disequilibrium studies with mutations in neuronal genes KCNA1 and CACNA1A. Migrainous vertigo is a clin ...[more]

PMID: 22379397

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Project description:Background: Vestibular disorders (VDs) are a clinically divergent group of conditions that stem from pathology at the level of the inner ear, vestibulocochlear nerve, or central vestibular pathway. No etiology can be identified in the majority of patients with VDs. Relatively few families have been reported with VD, and so far, no causative genes have been identified despite the fact that more than 100 genes have been identified for inherited hearing loss. Inherited VDs, similar to deafness, are genetically heterogeneous and follow Mendelian inheritance patterns with all modes of transmission, as well as multifactorial inheritance. With advances in genetic sequencing, evidence of familial clustering in VD has begun to highlight the genetic causes of these disorders, potentially opening up new avenues of treatment, particularly in Meniere's disease and disorders with comorbid hearing loss, such as Usher syndrome. In this review, we aim to present recent findings on the genetics of VDs, review the role of genetic sequencing tools, and explore the potential for individualized medicine in the treatment of these disorders. Methods: A search of the PubMed database was performed for English language studies relevant to the genetic basis of and therapies for vestibular disorders, using search terms including but not limited to: "genetics," "genomics," "vestibular disorders," "hearing loss with vestibular dysfunction," "individualized medicine," "genome-wide association studies," "precision medicine," and "Meniere's syndrome." Results: Increasing numbers of studies on vestibular disorder genetics have been published in recent years. Next-generation sequencing and new genetic tools are being utilized to unearth the significance of the genomic findings in terms of understanding disease etiology and clinical utility, with growing research interest being shown for individualized gene therapy for some disorders. Conclusions: The genetic knowledge base for vestibular disorders is still in its infancy. Identifying the genetic causes of balance problems is imperative in our understanding of the biology of normal function of the vestibule and the disease etiology and process. There is an increasing effort to use new and efficient genetic sequencing tools to discover the genetic causes for these diseases, leading to the hope for precise and personalized treatment for these patients.

Project description:BackgroundMigraine plays an important role in some subgroups of children with recurrent vertigo. Moreover, the migraine component varies from definite to possibly absent as defined in this spectrum of three disorders-vestibular migraine of childhood (VMC), probable VMC (pVMC), and recurrent vertigo of childhood (RVC). However, studies on the sensory organization of balance control in these three disorders are rare.ObjectiveTo explore the balance control of children with RVC, VMC, and pVMC, when the three sensory systems are challenged.MethodA retrospective analysis was performed on 125 children with VMC (18 female and 15 male; aged 11.64 ± 2.74), pVMC (10 female and eight male; aged 11.78 ± 2.51), and RVC (32 female and 42 male; aged 11.10 ± 2.60). All children in each subtype were divided into groups of children aged ≤ 12 years old and 13-17 years old. Vestibular examination screening and assessment for postural control using the six conditions of the sensory organization test (SOT) were performed. The three primary outcome measures were: equilibrium score (ES), strategy score (SS), and sensory analysis score of the SOT.ResultsEquilibrium score under six different conditions and composite score increased with age (all P-values < 0.05). The somatosensory and visual scores also improved with growing (P-values < 0.05). However, vestibular scores did not increase significantly with age as the other senses did (P > 0.05). In the children ≤ 12 year-old group, children with VMC had a significantly higher visual preference score than those with pVMC and RVC (P < 0.05). There was an effect of age on the horizontal HIT. Ocular vestibular evoked myogenic potential (oVEMP), cervical vestibular evoked myogenic potential (cVEMP), and unilateral weakness (UW) values showed no significant difference among three diseases.ConclusionCompared with patients at the age of 13-17 years old and with RVC and pVMC (both ≤ 12 years old), children with VMC had a higher degree of reliance on visual signals to maintain their balance and a poorer central integration of peripheral information before reaching 12 years of age. In addition, vision may predominate by weakening vestibular function based on visuo-vestibular interactions. It must be noted that peripheral vestibular examinations could not distinguish the three disease subtypes.

Project description:VEMP abnormalities in individuals with BPPV are often reported to be associated with utricle and saccule degeneration. The aim of the present study is to assess the frequency of VEMP abnormalities using vestibular evoked myogenic potentials in individuals with Posterior canal Benign Paroxysmal Positional Vertigo (BPPV) after Epley's manoeuvre. 36 individuals (36 ears) with definite posterior canal BPPV and 36 healthy controls were considered for the present study. All the them underwent otoscopic examination, Dix-Hallpike manoeuvre to diagnose posterior canal BPPV. Further Audiological Evaluation including pure tone audiometry was carried out to rule out vestibular disorders associated with hearing loss. Epley's manoeuvre was performed on all individuals with BPPV by an experienced otorhinolaryngologist. Cervical and Ocular Vestibular Evoked Myogenic Potentials (VEMP) were used to investigate the saccule and utricle functions following Epley's manoeuvre. Cervical VEMP and ocular VEMP abnormalities were observed in 8/36 (22.22%) and 18/36 (50%) affected ears with BPPV respectively. Cervical VEMP responses were reduced in amplitude among 1/36 (2.77%) and absent in 7/36 (19.44%) of affected ears with BPPV. Ocular VEMP responses were reduced in amplitude on 11/36 (30.55%), followed by absent responses in 5/36 (13.88%) ears with BPPV. Two patients with posterior canal BPPV i.e., 4/64 (5.55%) ears had bilateral absence of ocular VEMP responses. Two ears with BPPV 2/36 (5.55%) had absence of both cervical and ocular VEMP responses in BPPV affected ear. T test showed significant difference (p?<?0.01) in the amplitude of ocular VEMP among posterior canal BPPV individuals when compared to cervical VEMP. The present study highlights individuals with Posterior canal BPPV may have otoconia dislodgement or macular degeneration of utricle, saccule, both utricle and saccule unilaterally, or bilaterally. VEMP may be useful in evaluating degeneration of both otolith organs associated with BPPV.

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Genetics of recurrent vertigo and vestibular disorders.

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Genetics of recurrent vertigo and vestibular disorders.

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