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Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.

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Title: Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
Authors: Choi, Jae-Hwan, Seo, Jae-Deuk, Choi, Yu, Kim, Min-Ji, Shin, Jin-Hong, Kim, Ji, Choi, Kwang-Dong
Source: Neurological Sciences. Aug2015, Vol. 36 Issue 8, p1393-1396. 4p. 1 Diagram, 1 Chart, 2 Graphs.
Subjects: Nystagmus, Ataxia, Exercise therapy, Nonsense mutation, Psychological stress, Koreans, Patients, Therapeutics
Abstract: Episodic ataxia type 2 (EA2) is characterized by recurrent attacks of vertigo and ataxia lasting hours triggered by emotional stress or exercise. Although interictal horizontal gaze-evoked nystagmus and rebound nystagmus are commonly observed in patients with EA2, the nystagmus has been rarely reported during the vertigo attack. To better describe exercise-induced nystagmus in EA2, four affected members from three generations of a Korean family with EA2 received full neurological and neuro-otological evaluations. Vertigo was provoked in the proband with running for 10 min to record eye movements during the vertigo attack. We performed a polymerase chain reaction-based direct sequence analysis of all coding regions of CACNA1A in all participants. The four affected members had a history of exertional vertigo, imbalance, childhood epilepsy, headache, and paresthesia. The provocation induced severe vertigo and imbalance lasting several hours, and oculography documented pure downbeat nystagmus during the attack. Genetic analyses identified a nonsense mutation in exon 23 which has been registered in dbSNP as a pathogenic allele (c.3832C>T, p.R1278X) in all the affected members. Ictal downbeat nystagmus in the studied family indicates cerebellar dysfunction during the vertigo attack in EA2. In patients with episodic vertigo and ataxia, the observation of exercise-induced nystagmus would provide a clue for EA2. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
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  Data: <searchLink fieldCode="AR" term="%22Choi%2C+Jae-Hwan%22">Choi, Jae-Hwan</searchLink><br /><searchLink fieldCode="AR" term="%22Seo%2C+Jae-Deuk%22">Seo, Jae-Deuk</searchLink><br /><searchLink fieldCode="AR" term="%22Choi%2C+Yu%22">Choi, Yu</searchLink><br /><searchLink fieldCode="AR" term="%22Kim%2C+Min-Ji%22">Kim, Min-Ji</searchLink><br /><searchLink fieldCode="AR" term="%22Shin%2C+Jin-Hong%22">Shin, Jin-Hong</searchLink><br /><searchLink fieldCode="AR" term="%22Kim%2C+Ji%22">Kim, Ji</searchLink><br /><searchLink fieldCode="AR" term="%22Choi%2C+Kwang-Dong%22">Choi, Kwang-Dong</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2015, Vol. 36 Issue 8, p1393-1396. 4p. 1 Diagram, 1 Chart, 2 Graphs.
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  Data: Episodic ataxia type 2 (EA2) is characterized by recurrent attacks of vertigo and ataxia lasting hours triggered by emotional stress or exercise. Although interictal horizontal gaze-evoked nystagmus and rebound nystagmus are commonly observed in patients with EA2, the nystagmus has been rarely reported during the vertigo attack. To better describe exercise-induced nystagmus in EA2, four affected members from three generations of a Korean family with EA2 received full neurological and neuro-otological evaluations. Vertigo was provoked in the proband with running for 10 min to record eye movements during the vertigo attack. We performed a polymerase chain reaction-based direct sequence analysis of all coding regions of CACNA1A in all participants. The four affected members had a history of exertional vertigo, imbalance, childhood epilepsy, headache, and paresthesia. The provocation induced severe vertigo and imbalance lasting several hours, and oculography documented pure downbeat nystagmus during the attack. Genetic analyses identified a nonsense mutation in exon 23 which has been registered in dbSNP as a pathogenic allele (c.3832C>T, p.R1278X) in all the affected members. Ictal downbeat nystagmus in the studied family indicates cerebellar dysfunction during the vertigo attack in EA2. In patients with episodic vertigo and ataxia, the observation of exercise-induced nystagmus would provide a clue for EA2. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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