Maroofian Reza, Ortigoza-Escobar Juan Darío, Rohilla Pooja, Alvi Javeria Raza, Mushiba Aziza M, Almontashiri Naif A M, Efthymiou Stephanie, Sultan Tipu, Balla Tamas, Houlden Henry
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
Mov Disord. 2025 Oct;40(10):2243-2250. doi: 10.1002/mds.30286. Epub 2025 Aug 7.
Biallelic loss-of-function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia-defined as involuntary movements of the mouth and tongue-is observed in various pediatric neurodevelopmental disorders (NDD) but remains under-recognized.
The aims were to highlight orolingual dyskinesia as a core feature of PI4K2A-related disorder (PI4K2A-RD) and explore its presence across other NDDs.
We described two new families with PI4K2A-RD and reviewed the clinical features of four previously reported cases. A focused literature search was also conducted to identify other neurogenetic conditions associated with orolingual dyskinesia.
All individuals with PI4K2A deficiency exhibited orolingual dyskinesia, along with developmental delay, movement abnormalities, and variable seizures. The literature review confirmed frequent underreporting of this feature in NDDs.
Orolingual dyskinesia is a relevant but under-recognized clinical sign in PI4K2A-RD and other neurogenetic conditions, with potential diagnostic value. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
PI4K2A双等位基因功能丧失变异与一种以癫痫和运动障碍为特征的神经发育障碍有关，包括口面部运动障碍。然而，仅报告了4例。口舌运动障碍（定义为口腔和舌头的不自主运动）在各种儿科神经发育障碍（NDD）中均有观察到，但仍未得到充分认识。
旨在强调口舌运动障碍是PI4K2A相关疾病（PI4K2A-RD）的核心特征，并探讨其在其他NDD中的存在情况。
我们描述了两个患有PI4K2A-RD的新家族，并回顾了之前报道的4例病例的临床特征。还进行了针对性的文献检索，以确定与口舌运动障碍相关的其他神经遗传疾病。
所有PI4K2A缺乏的个体均表现出口舌运动障碍，同时伴有发育迟缓、运动异常和各种癫痫发作。文献综述证实，该特征在NDD中经常未被报告。
口舌运动障碍在PI4K2A-RD和其他神经遗传疾病中是一个相关但未被充分认识的临床体征，具有潜在的诊断价值。© 2025作者。《运动障碍》由Wiley Periodicals LLC代表国际帕金森病和运动障碍协会出版。
