Genetics of vestibular disorders: pathophysiological insights

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 ata...

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Bibliographic Details
Published in:Journal of neurology 2016-04, Vol.263 (Suppl 1), p.45-53
Main Authors: Frejo, Lidia, Giegling, Ina, Teggi, Roberto, Lopez-Escamez, Jose A., Rujescu, Dan
Format: Article
Language:English
Subjects:
Computational Biology
DNA-Binding Proteins
Extracellular Matrix Proteins
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Homeodomain Proteins - genetics
Humans
Medicine
Medicine & Public Health
Mitochondrial Proteins - genetics
Myosins
Neurology
Neuroradiology
Neurosciences
Review
Transcription Factor Brn-3C - genetics
Transcription Factors
Vestibular Diseases - classification
Vestibular Diseases - genetics
Vestibular Diseases - physiopathology
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Summary: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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-015-7988-9