Recent advances in the genetics of recurrent vertigo and vestibulopathy

Joanna C Jen
Current Opinion in Neurology 2008, 21 (1): 3-7

PURPOSE OF REVIEW: To focus on recent advances in the genetics of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migraine-associated vertigo), bilateral vestibulopathy, and Ménière's disease.

RECENT FINDINGS: Since the identification more than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical features and genetic loci is slowly expanding, now up to episodic ataxia type 7. There is growing recognition for a correlation between benign recurrent vertigo and migraine, and acceptance for vertigo as a manifestation of migraine; efforts to identify susceptibility loci for migraine and migraine-associated vertigo are underway. A handful of families with vestibulopathy spanning several generations have been identified. Although no gene has yet been found, vestibulopathy with normal hearing variably associated with migraine is likely monogenic and heterogeneous, similar to nonsydromic deafness. There is also continuing effort to identify genetic causes of familial Ménière's disease.

SUMMARY: Overlapping clinical features among different familial syndromes of recurrent vertigo and strong association with migraine suggest shared mechanisms. Collaborative efforts in patient identification and recruitment will facilitate progress in understanding disease mechanisms to improve diagnosis and treatment of recurrent vertigo.

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