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Exercise test for patients with new-onset paroxysmal kinesigenic dyskinesia

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Abstract

The pathogenesis of primary paroxysmal kinesigenic dyskinesia (PKD) remains unclear, and channelopathy is a possibility. In a pilot study, we found that PKD patients had abnormal exercise test (ET) results. To investigate the ET performances in patients affected by PKD, and the role of the channelopathies in the pathogenesis of PKD, we compared the ET results of PKD patients, control subjects, and hypokalemic periodic paralysis (HoPP) patients, and we analyzed ET changes in 32 PKD patients before and after treatment. Forty-four PKD patients underwent genetic testing for the PRRT2, SCN4A, and CLCN1 genes. Sixteen of 59 (27%) patients had abnormal ET results in the PKD group, while 28 of 35 (80%) patients had abnormal ET results in the HoPP group. Compared with the control group, the PKD group showed a significant decrease in the compound muscle action potential (CMAP) amplitude and area after the long ET (LET), while the HoPP group showed not only greater decreases in the CMAP amplitude and area after the LET but also greater increases in the CMAP amplitude and area immediately after the LET. The ET parameters before and after treatment were not significantly different. Nine of 44 PKD patients carried PRRT2 mutations, but the gene abnormalities were unrelated to any ET parameter. The PKD group demonstrated an abnormal LET result by electromyography (EMG), and this abnormality did not seem to correlate with the PRRT2 variant or sodium channel blocker therapy.

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Abbreviations

CMAP:

Compound muscle action potential

EMG:

Electromyography

ET:

Exercise test

HoPP:

Hypokalemic periodic paralysis

LET:

Long exercise test

PED:

Paroxysmal exertion-induced dyskinesia

PKD:

Paroxysmal kinesigenic dyskinesia

PP:

Periodic paralysis

PRRT2:

Proline-rich transmembrane protein 2

SET:

Short exercise test

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Author notes

  1. Kang Wang and Ben-yan Luo contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310000, China

    Fang Ji, Qing Ke, Kang Wang & Ben-yan Luo

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  1. Fang Ji
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  2. Qing Ke
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  3. Kang Wang
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  4. Ben-yan Luo
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Fang Ji, Qing Ke, and Ben-yan Luo. The first draft of the manuscript was written by Fang Ji and Kang Wang, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Kang Wang or Ben-yan Luo.

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Ji, F., Ke, Q., Wang, K. et al. Exercise test for patients with new-onset paroxysmal kinesigenic dyskinesia. Neurol Sci 42, 4623–4628 (2021). https://doi.org/10.1007/s10072-021-05118-0

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