Evidence map›Paper›PMID 27083884›Full record

ReviewJournal of neurology2016

Genetics of vestibular disorders: pathophysiological insights.

Lidia Frejo, Ina Giegling, Roberto Teggi, Jose A Lopez-Escamez, Dan Rujescu

Open access · hybridAbstract readReview
In one paragraph

Review in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 4 pooled it
5.1field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

48 citing papers in PubMed, 4 syntheses or guidelines pooled it, 79 citations in OpenAlex.

  1. Pharmacological interventions for acute attacks of vestibular migraine.The Cochrane database of systematic reviews · 2023
    Pooled it
  2. Non-pharmacological interventions for prophylaxis of vestibular migraine.The Cochrane database of systematic reviews · 2023
    Pooled it
  3. Pharmacological interventions for prophylaxis of vestibular migraine.The Cochrane database of systematic reviews · 2023
    Pooled it
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  14. Identification of a novel compound heterozygous pathogenic variant inThe Journal of international medical research · 2023
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 4 institutions in 3 countries.

Lidia FrejoOtology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, 18016, Granada, Spain.
Ina GieglingGerman Center for Vertigo and Balance Disorders, Munich, Germany.
Roberto TeggiDepartment of Otolaryngology, San Raffaelle Scientific Institute, Milan, Italy.
Jose A Lopez-EscamezOtology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, 18016, Granada, Spain. antonio.lopezescamez@genyo.es.
Dan RujescuGerman Center for Vertigo and Balance Disorders, Munich, Germany.
German Center for Lung Research · DEPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research · ESSan Raffaele University of Rome · ITUniversidad de Granada · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The two most common vestibular disorders are motion sickness and vestibular migraine, affecting 30 and 1-2% of the population respectively. Both are related to migraine and show a familial trend. Bilateral vestibular hypofunction is a rare condition, and some of patients also present cerebellar ataxia and neuropathy. We present recent advances in the genetics of vestibular disorders with familial aggregation. The clinical heterogeneity observed in different relatives of the same families suggests a variable penetrance and the interaction of several genes in each family. Some Mendelian sensorineural hearing loss also exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. However, the most relevant finding during the past years is the familial clustering observed in Meniere's disease. By using whole exome sequencing and combining bioinformatics tools, novel variants in DTNA and FAM136A genes have been identified in familial Meniere's disease, and this genomic strategy will facilitate the discovery of the genetic basis of familial vestibular disorders.

Indexed as

Genetic Association StudiesComputational BiologyDNA-Binding ProteinsExtracellular Matrix ProteinsGenetic Predisposition to DiseaseHomeodomain ProteinsHumansMitochondrial ProteinsMyosinsMyosin VIIaTranscription Factor Brn-3CTranscription FactorsVestibular DiseasesCOCH protein, humanDNA-Binding ProteinsExtracellular Matrix ProteinsFAM136A protein, humanGRHL2 protein, humanHomeodomain ProteinsMitochondrial ProteinsMYO7A protein, humanMyosinsMyosin VIIaPOU4F3 protein, humanTranscription Factor Brn-3CTranscription FactorsMeniere diseaseMotion sicknessVestibular disordersVestibular migraineWhole exome sequencing

Identifiers

PMID27083884
PMCPMC4833787
OpenAlexW2336619397

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.