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PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia

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Abstract

Objective

Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder PRRT2 gene mutations have been reported to cause PKD. However, the pathophysiological mechanism of PKD remains unclear, and it is unknown whether an inflammatory response is involved in the occurrence of this disease. We aimed to investigate the symptomatology, genotype, and serum cytokines of patients with PKD.

Methods

We recruited 21 patients with PKD, including 7 with familial PKD and 14 with sporadic PKD. Their clinical features were investigated, and blood samples were collected, and PRRT2 mutations and cytokine levels were detected.

Results

The mean age at PKD onset was 12.3±2.2 years old. Dystonia was the most common manifestation of dyskinesia, and the limbs were the most commonly affected parts. All attacks were induced by identifiable kinesigenic triggers, and the attack durations were brief (<1 min). Four different mutations from 9 probands were identified in 7 familial cases (71.4%) and 14 sporadic cases (28.6%). Two of these mutations (c.649dupC, c.620_621delAA) had already been reported, while other 2 (c.1018_1019delAA, c.1012+1G>A) were previously undocumented. The tumor necrosis factor (TNF)-α level in the PKD group was significantly higher than that in the age- and sex-matched control group (P=0.025). There were no significant differences in the interleukin (IL)-1β, IL-2R, IL-6, IL-8, or IL-10 levels between the two groups.

Conclusion

In this study, we summarized the clinical and genetic characteristics of PKD. We found that the serum TNF-α levels were elevated in patients clinically diagnosed with PKD, suggesting that an inflammatory response is involved in the pathogenesis of PKD.

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Authors and Affiliations

  1. Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Ke Xu, Shan-shan Huang, Guo Li, Sui-qiang Zhu & Xiao-yan Liu

  2. Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Dao-yuan Yue

Authors
  1. Ke Xu
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  2. Shan-shan Huang
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  3. Dao-yuan Yue
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  4. Guo Li
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  5. Sui-qiang Zhu
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Corresponding author

Correspondence to Xiao-yan Liu.

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The authors declare that they have no conflicts of interest.

Additional information

This work was supported by the Natural Science Foundation of Hubei Province (No. 2019CFB753), the Hubei Technological Innovation Special Fund (No. 2019ACA132), and the Hubei Natural Science Foundation (No. 2020CFB805).

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Xu, K., Huang, Ss., Yue, Dy. et al. PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia. CURR MED SCI 42, 280–285 (2022). https://doi.org/10.1007/s11596-022-2583-7

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  • DOI: https://doi.org/10.1007/s11596-022-2583-7

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