Relation between temporal PRRT2 expression pattern and clinical progression of PRRT2-related paroxysmal disorders
10.3760/cma.j.cn115354-20240827-00510
- VernacularTitle:PRRT2基因表达的时间变化与 PRRT2基因相关发作性疾病病程演变的关系研究
- Author:
Jiayuan ZHANG
1
;
Kang LIU
1
;
Jiayuan ZHAO
1
;
Mengwen ZHANG
1
;
Yanxun CHEN
1
;
Cuishan WANG
1
;
Ruifeng SHEN
1
;
Na HE
1
Author Information
1. 广州医科大学附属第二医院神经内科，广州 510260
- Publication Type:Journal Article
- Keywords:
Prolin-rich transmembrane protein 2;
Paroxysmal kinesigenic dyskinesia;
Infantile convulsion with choreoathetosis;
Time series analysis
- From:
Chinese Journal of Neuromedicine
2025;24(3):275-279
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the relation between temporal expression changes of proline-rich transmembrane protein 2 ( PRRT2) gene and clinical progression of PRRT2-related paroxysmal disorders (PRPDs). Methods:A retrospective analysis was performed; 19 patients with PRPDs admitted to Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2021 to July 2024 were enrolled; their clinical data, including onset age and disease progression, were collected. Using Bgee database, the PRRT2 gene expressions in different age groups were analyzed to explore their relations with clinical progression. Results:Among the 19 patients, 8 were diagnosed as having infantile convulsion with choreoathetosis (ICCA), 1 patient as having infantile convulsion, and 10 as having paroxysmal kinesigenic dyskinesia (PKD). Among patients with ICCA, the disease course was divided into two stages: in infantile period, it manifested as infantile convulsions at the onset, with an onset age of (5.75±1.03) months, ranged 4-7 months; in early childhood, no seizures were noted, enjoying a silent period and lasting for a period ranged 7-15 years; subsequently, the disease relapsed during adolescent, presenting as dyskinesia, with an onset age of (11.75±3.11) years, ranged 8-16 years. Among patients with PKD, onset age was (10.40±3.17) years, ranged 5-17 years. PRRT2 expression peaked before 1 year old, declined to the lowest level at 10 years old, and then gradually increased, reaching a second peak at 17 years old; PRRT2 expression demonstrated bimodal peaks during early childhood and adolescence. Conclusion:PRPDs progression shows a certain consistency with the temporal change of PRRT2 gene expression.
