Previtali Roberto, Leidi Alessia, Basso Martina, Izzo Giana, Stignani Cecilia, Spaccini Luigina, Iascone Maria, Veggiotti Pierangelo, Bova Stefania Maria
University of Milan, Milan, Italy.
Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy.
Front Neurol. 2023 Jul 6;14:1181015. doi: 10.3389/fneur.2023.1181015. eCollection 2023.
is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported -mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with pathogenic variants in and their clinical pictures, compared with those of cases already reported in the literature. In line with previous reports, the two patients presented early-onset developmental and epileptic encephalopathy. In addition, one patient developed a speech disorder and a progressive movement disorder characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, and retropulsion. She was treated with levodopa without any clinical improvement. Pathogenic variants in may result in a cardiological or neurological phenotype. Severe developmental delay, intellectual disability, and early-onset developmental and epileptic encephalopathy are the main features of -mutated patients with neurological involvement. Movement and speech disorders have never previously been described and could be new features of the neurological phenotype.
在心血管和神经组织中表达。在大脑中，它在产前和产后成熟过程中发挥作用。先前报道的突变患者表现出早发性癫痫和智力残疾。我们描述了两例未报道的携带致病变体的病例及其临床症状，并与文献中已报道的病例进行了比较。与先前的报道一致，这两名患者均出现早发性发育性和癫痫性脑病。此外，一名患者出现了言语障碍和进行性运动障碍，其特征为肌张力亢进、运动徐缓、表情减少、共济失调步态和后冲。她接受了左旋多巴治疗，但没有任何临床改善。致病变体可能导致心脏或神经表型。严重发育迟缓、智力残疾以及早发性发育性和癫痫性脑病是携带突变且有神经受累的患者的主要特征。运动和言语障碍以前从未被描述过，可能是神经表型的新特征。
