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Neurological Sciences

, Volume 36, Issue 8, pp 1393–1396 | Cite as

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

  • Jae-Hwan Choi
  • Jae-Deuk Seo
  • Yu Ri Choi
  • Min-Ji Kim
  • Jin-Hong Shin
  • Ji Soo Kim
  • Kwang-Dong ChoiEmail author
Original Article

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.

Keywords

Episodic ataxia Exercise Downbeat nystagmus CACNA1A mutation Calcium channel Cerebellar dysfunction 

Notes

Acknowledgments

This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2013R1A1A2006640).

Conflict of interest

We have no disclosure of any competing interest.

Supplementary material

10072_2015_2157_MOESM1_ESM.mpg (13.9 mb)
Running for 10 min induced pure downbeat nystagmus in the proband (MPG 14282 kb)

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Copyright information

© Springer-Verlag Italia 2015

Authors and Affiliations

  • Jae-Hwan Choi
    • 1
  • Jae-Deuk Seo
    • 2
  • Yu Ri Choi
    • 3
  • Min-Ji Kim
    • 3
  • Jin-Hong Shin
    • 1
  • Ji Soo Kim
    • 4
  • Kwang-Dong Choi
    • 3
    Email author
  1. 1.Department of NeurologyPusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan HospitalYangsanKorea
  2. 2.Department of NeurologyBonhospitalBusanKorea
  3. 3.Department of NeurologyCollege of Medicine, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research InstituteBusanKorea
  4. 4.Department of NeurologySeoul National University Bundang HospitalSeongnamKorea

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