Abstract：
This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes.
Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency.
The mean (S.D.) age of symptom onset collected from 13 patients was 19.7 (11.8) months. Mean (S.D.) age of diagnosis collected from 24 patients was 44.0 (45.1) months. The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19). Neurological symptoms included ataxia (14 of 15), other abnormal movements (8 of 9), hypotonia (9 of 11), and dystonia (6 of 9). Three of nine reporting patients (33.3%) had a history of seizure, and 84.6% (11 of 13) had a history of regression/loss of acquired skills. Extraneurological clinical features included pulmonary complications (10 of 11) and feeding difficulties (13 of 13); cardiac complications were noted in three patients. Brainstem is frequently involved with the medulla and midbrain being the most common sites. As of July 2021, three patients were deceased.
The most common clinical symptoms were motor delay, verbal delay, intellectual and learning disability, dysphagia, feeding difficulties, and reflux. Neurological presentations include ataxia, hypotonia, visual/ocular abnormalities, dystonia, and imaging abnormalities include basal ganglia and brainstem lesions. Although heterogeneous, SURF1 deficiency should be considered with these clinical and imaging presentations and may support earlier identification.
Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency.
The mean (S.D.) age of symptom onset collected from 13 patients was 19.7 (11.8) months. Mean (S.D.) age of diagnosis collected from 24 patients was 44.0 (45.1) months. The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19). Neurological symptoms included ataxia (14 of 15), other abnormal movements (8 of 9), hypotonia (9 of 11), and dystonia (6 of 9). Three of nine reporting patients (33.3%) had a history of seizure, and 84.6% (11 of 13) had a history of regression/loss of acquired skills. Extraneurological clinical features included pulmonary complications (10 of 11) and feeding difficulties (13 of 13); cardiac complications were noted in three patients. Brainstem is frequently involved with the medulla and midbrain being the most common sites. As of July 2021, three patients were deceased.
The most common clinical symptoms were motor delay, verbal delay, intellectual and learning disability, dysphagia, feeding difficulties, and reflux. Neurological presentations include ataxia, hypotonia, visual/ocular abnormalities, dystonia, and imaging abnormalities include basal ganglia and brainstem lesions. Although heterogeneous, SURF1 deficiency should be considered with these clinical and imaging presentations and may support earlier identification.
摘要：
背景：本回顾性图表评估了SURF1相关神经系统疾病谱的临床特征，以更好地表征表型。
方法：患者人口统计，磁共振成像异常，神经事件,电机异常，对27例遗传诊断为SURF1缺乏症的患者进行了胃肠道和呼吸辅助评估。
结果：从13例患者中收集的症状发作的平均年龄（S.D.）为19.7（11.8）个月。从24名患者收集的平均(S.D.)诊断年龄为44.0(45.1)个月。最常见的症状是粗大运动延迟（14/14），精细电机延迟(11个中的10个)，口头延迟（10个中的9个），智力和学习障碍(19人中的14人)。神经系统症状包括共济失调（14/15），其他异常运动（9个中的8个），低张力（11个中的9个），和肌张力障碍（9个中的6个）。9例报告患者中有3例（33.3％）有癫痫发作史，84.6%(13人中有11人)有消退/丧失获得技能的病史。神经外临床特征包括肺部并发症（11个中的10个）和进食困难（13个中的13个）；在三名患者中发现了心脏并发症。脑干经常涉及髓质和中脑是最常见的部位。截至2021年7月，3名患者死亡。
结论：最常见的临床症状是运动延迟，口头拖延，智力和学习障碍，吞咽困难,喂养困难，和回流。神经系统表现包括共济失调，低张力,视觉/眼部异常，肌张力障碍,影像学异常包括基底神经节和脑干病变。虽然异质，这些临床和影像学表现应考虑SURF1缺陷，并可能支持早期识别。
方法：患者人口统计，磁共振成像异常，神经事件,电机异常，对27例遗传诊断为SURF1缺乏症的患者进行了胃肠道和呼吸辅助评估。
结果：从13例患者中收集的症状发作的平均年龄（S.D.）为19.7（11.8）个月。从24名患者收集的平均(S.D.)诊断年龄为44.0(45.1)个月。最常见的症状是粗大运动延迟（14/14），精细电机延迟(11个中的10个)，口头延迟（10个中的9个），智力和学习障碍(19人中的14人)。神经系统症状包括共济失调（14/15），其他异常运动（9个中的8个），低张力（11个中的9个），和肌张力障碍（9个中的6个）。9例报告患者中有3例（33.3％）有癫痫发作史，84.6%(13人中有11人)有消退/丧失获得技能的病史。神经外临床特征包括肺部并发症（11个中的10个）和进食困难（13个中的13个）；在三名患者中发现了心脏并发症。脑干经常涉及髓质和中脑是最常见的部位。截至2021年7月，3名患者死亡。
结论：最常见的临床症状是运动延迟，口头拖延，智力和学习障碍，吞咽困难,喂养困难，和回流。神经系统表现包括共济失调，低张力,视觉/眼部异常，肌张力障碍,影像学异常包括基底神经节和脑干病变。虽然异质，这些临床和影像学表现应考虑SURF1缺陷，并可能支持早期识别。
