Genetics of dizziness

Requena, Teresa; Espinosa-Sánchez, Juan Manuel; Lopez-Escamez, José A.

doi:10.1097/wco.0000000000000053

Cited by 43 publications

(24 citation statements)

References 46 publications

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“…magnetic resonance imaging, computed tomography), lumbar puncture, sensory nerve action potentials, speech assessment, etc. [18,19,20,23,40,89]. However, these tests are mainly used for determination of coexisting problems or the etiology of BVH (table 1), not for an evaluation of vestibular function.…”

Section: Challenges In Establishing a Diagnosis Of Bvhmentioning

confidence: 99%

“…In some cases, BVH may precede cerebellar ataxia. Often, BVH is underdiagnosed in cerebellar disorders, probably partly because cerebellar and vestibular disorders have overlapping signs and symptoms [22,40]. Vestibular disorders may even be improperly diagnosed as a cerebellar syndrome [12].…”

Section: Challenges In Establishing a Diagnosis Of Bvhmentioning

confidence: 99%

“…Nowadays, this symptom complex is known to have many causes, and BVH probably represents a functionally heterogeneous disorder with different combined or isolated deficits of the semicircular canals and/or otolith organs [18]. Most of the etiologies described are presented in table 1[12,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44]. However, its etiology still remains unclear in approximately 50% of all cases [7,19].…”

Section: Introductionmentioning

confidence: 99%

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Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

Berg

Tilburg

Kingma

2015

ORL

106

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Bilateral vestibular hypofunction (BVH) probably represents a heterogeneous disorder with different types of clinical pictures, with and without vertigo. In spite of increasingly sophisticated electrophysiological testing, still many challenges are met when establishing a diagnosis of BVH. Here, we review the main challenges, which are a reflection of its often difficult clinical presentation and the lack of diagnostic standards regarding the implementation and interpretation of vestibular tests. These challenges show that there is an urgent need for standardization. The resulting decisions should be used for the development of uniform diagnostic criteria for BVH, which are, at present, not yet available.

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Section: Challenges In Establishing a Diagnosis Of Bvhmentioning

confidence: 99%

Section: Challenges In Establishing a Diagnosis Of Bvhmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

Berg

Tilburg

Kingma

2015

ORL

106

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“…Despite these discoveries, the genetic basis of approximately 40% of familial HSPs remains unknown 4. Although ion channel dysfunction plays an important role in the pathogenesis of other disorders of the central nervous system, including the epilepsies5 and ataxias,6, 7 to date ion channels have not been implicated in HSPs.…”

mentioning

confidence: 99%

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Helbig

Hedrich

Shinde

et al. 2016

Annals of Neurology

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The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage‐gated K+‐channel, KV1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow‐up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two‐electrode voltage‐clamp recordings of Xenopus laevis oocytes expressing mutant KV1.2 channels showed loss of function with a dominant‐negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism. Ann Neurol 2016

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“…The molecular control of cell- and tissue-type specification within developing hindbrain provides insights into the genetic bases of the most common human developmental brainstem and cerebellar disorders such as congenital deafness, migraine, vestibulopathies, Joubert syndrome, Dandy-Walker malformation, spinal cerebellar ataxias (SCA) and many other hindbrain disorders. Indeed, several causative genes have been identified for cerebellar and brainstem disorders [[11]–[13]]. Thus, it is imperative to develop a method to efficiently deliver gene(s) into the hindbrain using both region-specific injection and incorporating a hindbrain-specific enhancer construct.…”

Section: Introductionmentioning

confidence: 99%

Gene delivery in mouse auditory brainstem and hindbrain using in utero electroporation

et al. 2014

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BackgroundManipulation of gene expression via recombinant viral vectors and creation of transgenic knock-out/in animals has revolutionized our understanding of genes that play critical roles during neuronal development and pathophysiology of neurological disorders. Recently, target-specific genetic manipulations are made possible to perform in combination with specific Cre-lines, albeit costly, labor-intensive and time consuming. Thus, alternative methods of gene manipulations to address important biological questions are highly desirable. In this study, we utilized in utero electroporation technique which involves efficient delivery of hindbrain-specific enhancer/promoter construct, Krox20 into the third ventricle of live mouse embryo to investigate green fluorescent protein (GFP) expression pattern in mouse auditory brainstem and other hindbrain neurons.ResultsWe created a GFP/DNA construct containing a Krox20 B enhancer and β-globin promoter to drive GFP expression in the hindbrain via injection into the third ventricle of E12 to E13.5 mice. Electrical currents were applied directly to the embryonic hindbrain to allow DNA uptake into the cell. Confocal images were then acquired from fixed brain slices to analyze GFP expression in mouse whole brain at different postnatal stages (P6-P21). By using a cell-type specific enhancer as well as region specific injection and electroporation, robust GFP expression in the cerebellum and auditory brainstem but not in the forebrain was observed. GFP expression in calyx of Held terminals was more robust in P15 mice. In contrast, GFP expression in MNTB neurons was more prevalent in >P15 compared to

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Genetics of dizziness

Cited by 43 publications

References 46 publications

Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Gene delivery in mouse auditory brainstem and hindbrain using in utero electroporation

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