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Published on: September 18, 2013
PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia
Ke Xu1, Shan-Shan Huang1, Dao-Yuan Yue2
1Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
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.
Insights
Paroxysmal kinesigenic dyskinesia (PKD) involves PRRT2 gene mutations. Elevated serum tumor necrosis factor-alpha (TNF-α) suggests inflammation plays a role in this rare movement disorder.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder.
- PRRT2 gene mutations are linked to PKD, but its mechanism is unclear.
- The potential involvement of inflammatory responses in PKD pathogenesis requires investigation.
Purpose of the Study:
- To investigate the clinical symptoms, genetic mutations, and serum cytokine profiles of patients with PKD.
- To explore the relationship between PRRT2 mutations and the inflammatory markers in PKD patients.
Main Methods:
- Recruited 21 PKD patients (7 familial, 14 sporadic).
- Collected blood samples for PRRT2 mutation analysis and serum cytokine level detection.
- Compared cytokine levels between PKD patients and age/sex-matched controls.
Main Results:
- Dystonia in limbs was the most common symptom, triggered by kinesigenic stimuli.
- Identified four PRRT2 mutations, including two novel ones.
- Serum tumor necrosis factor-alpha (TNF-α) levels were significantly higher in PKD patients compared to controls.
Conclusions:
- Summarized clinical and genetic features of PKD.
- Elevated serum TNF-α levels indicate an inflammatory component in PKD pathogenesis.
- Further research into the inflammatory mechanisms of PKD is warranted.
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