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

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Jae-Hwan ChoiKwang-Dong Choi

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...Continue Reading

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Citations

Sep 27, 2016·Journal of Movement Disorders·Kwang-Dong Choi, Jae-Hwan Choi
Jan 18, 2017·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Ilaria Di Donato, Antonio Federico
Feb 9, 2019·Journal of Movement Disorders·Ileok Jung, Ji-Soo Kim
Oct 22, 2020·The Cerebellum·Eun Hye OhJae-Hwan Choi
Feb 6, 2021·Journal of Neurology·Elisabetta IndelicatoSylvia Boesch
Oct 29, 2021·Journal of Neurology·Jae-Hwan ChoiKwang-Dong Choi

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