Abstract：
ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.
摘要：
ADPRHL2参与翻译后修饰，已知在细胞信号传导等生理功能中起作用。DNA修复,基因控制,细胞死亡,和对压力的反应。最近,描述了一组由ADPRHL2变体引起的神经系统疾病，以儿童期发病为特征，应激诱发的可变运动障碍，神经病,癫痫发作,和神经退行性过程。我们目前的诊断路径的两名儿童患者的发作性肌张力障碍和共济失调，由于相同的纯合ADPRHL2变体，后来患有神经退行性病程并伴有中枢通气不足综合征。根据ADPRHL2变异患者的2020年系统评价和荟萃分析的首选报告项目，我们进行了系统的文献检索和数据提取程序。从2018年到2月3日，2023年。总的来说,最终分析包括12篇描述47名患者的文章。症状发作的中位年龄为2（0.7-25）岁，最常见的症状是步态问题（n=19，40.4%），癫痫发作（n=16，34%），共济失调（n=13，27.6%），和弱点（n=10，21.2%）。触发因素(28/47；59.5%)和回归因素(28/43；60.4%)，轴索多发性神经病（9/23；39.1%），脑和小脑萎缩伴白质改变(28/36；77.7%)是其他线索。死亡率和中位死亡年龄分别为44.6％（n=21）和7（2-34）岁，分别。ADPRHL2变体应在情节的背景下考虑，应激引起的儿童和成人发作的运动障碍和癫痫发作。
