RT Generic
T1 Genetics of vestibular disorders: pathophysiological insights
A1 Frejo, Lidia
A1 Giegling, Ina
A1 Teggi, Roberto
A1 Lopez-Escamez, Jose A.
A1 Rujescu, Dan
K1 Vestibular disorders
K1 Whole exome sequencing
K1 Vestibular migraine
K1 Motion sickness
K1 Meniere disease
K1 Familial hemiplegic migraine
K1 Dominant hearing-loss
K1 Menieres-disease
K1 Inner-ear
K1 Nonsyndromic deafness
K1 Diagnostic-criteria
K1 Molecular analysis
K1 Endolymphatic sac
K1 Mutation analysis
K1 Mainland chinese
AB 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.
PB Springer heidelberg
SN 0340-5354
YR 2016
FD 2016-04-01
LK http://hdl.handle.net/10668/18630
UL http://hdl.handle.net/10668/18630
LA en
DS RISalud
RD Apr 6, 2025