【Abstract】
Background Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline‐rich transmembrane protein 2 have been identified as the major pathogenic factor.
Objectives We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy.
Methods The China Paroxysmal Dyskinesia Collaborative Group was composed of departments of neurology from 22 hospitals. Clinical manifestations and proline‐rich transmembrane protein 2 screening results were recorded using unified paroxysmal kinesigenic dyskinesia registration forms. Genotype‐phenotype correlation analyses were conducted in patients with and without proline‐rich transmembrane protein 2 mutations. High‐knee exercises were applied in partial patients as a new diagnostic test to induce attacks.
Results Kinesigenic triggers, male predilection, dystonic attacks, aura, complicated forms of paroxysmal kinesigenic dyskinesia, clustering in patients with family history, and dramatic responses to antiepileptic treatment were the prominent features in this multicenter study. Clinical analysis showed that proline‐rich transmembrane protein 2 mutation carriers were prone to present at a younger age and have longer attack duration, bilateral limb involvement, choreic attacks, a complicated form of paroxysmal kinesigenic dyskinesia, family history, and more forms of dyskinesia. The new high‐knee‐exercise test efficiently induced attacks and could assist in diagnosis.
Conclusions We propose recommendations regarding diagnostic criteria for paroxysmal kinesigenic dyskinesia based on this large clinical study of paroxysmal kinesigenic dyskinesia. The findings offered some new insights into the diagnosis and treatment of paroxysmal kinesigenic dyskinesia and might help in building standardized paroxysmal kinesigenic dyskinesia clinical evaluations and therapies.
【中文摘要】
背景：發作性動作誘發性運動障礙（PKD）是一種具有高度臨床及遺傳異質性的運動障礙疾病。PRRT2基因突變是其主要的致病原因之一。
對象及方法：全國22家醫院，共收集600例PKD患者，根據統一的標準化評估量表對所有入組患者進行臨床症狀評估，並結合患者PRRT2基因變異情況進行表型-基因性分析。
結果：研究發現運動源性誘因、男性易感性、肌張力障礙性發作、對抗癲癇藥物良好反應是該疾病的突出特點。攜帶PRRT2基因突變的患者發病年齡較小，發作持續時間較長，並更易表現為複雜型PKD、合併有多種形式的發作等特點。此外，本研究提出了一種新的輔助PKD快速臨床診斷的高抬腿運動誘發試驗。
結論：根據上述結果，本研究在原有診斷標準的基礎上，對診斷標準進行了分層及修改，以幫助醫生在臨床實踐中更準確地對PKD進行診斷及鑑別診斷。