Takahashi Satoru, Tanaka Ryosuke, Takeguchi Ryo, Kuroda Mami, Akaba Yuichi, Ito Yasushi
Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido 078-8510, Japan.
Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido 078-8510, Japan.
J Neurol Sci. 2020 Sep 15;416:117041. doi: 10.1016/j.jns.2020.117041. Epub 2020 Jul 16.
The study aimed to investigate the role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome (Glut1DS). During 2006-2020, we received 100 requests for SLC2A1 variant analysis of patients clinically suspected for Glut1DS. Pathogenic variants were detected in 37 patients, among whom 11 were familial cases. Most patients presented with epilepsy (n = 31; 84%), movement disorders (MD) (n = 28; 76%), and intellectual disabilities (ID) (n = 29; 78%). Moreover, paroxysmal dyskinesias (PD) (n = 10; 27%) were more frequently seen in familial cases (55%) than in sporadic cases (15%) (p < .05). The Glut1DS patients with ID typically had either epilepsy or MD. The presence of MD, particularly when associated with epilepsy or ID, indicated Glut1DS (p < .05). The cerebrospinal fluid (CSF) glucose levels were at or below the 10th percentile in all 32 SLC2A1-positive patients but only in 16 of 52 (31%) SLC2A1-negative patients (p < .05). Thus, CSF analysis is an essential tool in the diagnostic workup of Glut1DS. SLC2A1 molecular analysis should be performed in patients with a family history of Glut1DS or with at least one of the following clinical features, such as epilepsy, MD, and PD with or without ID, and low CSF glucose level. This would help in precise molecular diagnosis of the disease and facilitate effective treatment and appropriate genetic counseling.
该研究旨在探讨溶质载体家族2成员1（SLC2A1）分子分析在葡萄糖转运蛋白1缺乏综合征（Glut1DS）诊断检查中的作用。在2006年至2020年期间，我们收到了100例临床疑似Glut1DS患者的SLC2A1变异分析请求。在37例患者中检测到了致病性变异，其中11例为家族性病例。大多数患者表现为癫痫（n = 31；84%）、运动障碍（MD）（n = 28；76%）和智力残疾（ID）（n = 29；78%）。此外，阵发性运动障碍（PD）（n = 10；27%）在家族性病例（55%）中比散发性病例（15%）更常见（p < 0.05）。患有ID的Glut1DS患者通常伴有癫痫或MD。MD的存在，特别是与癫痫或ID相关时，提示为Glut1DS（p < 0.05）。在所有32例SLC2A1阳性患者中，脑脊液（CSF）葡萄糖水平处于或低于第10百分位数，但在52例SLC2A1阴性患者中只有16例（31%）如此（p < 0.05）。因此，脑脊液分析是Glut1DS诊断检查中的一项重要工具。对于有Glut1DS家族史或具有以下至少一种临床特征的患者，如癫痫、MD以及伴有或不伴有ID的PD，且脑脊液葡萄糖水平低的患者，应进行SLC2A1分子分析。这将有助于对该疾病进行精确的分子诊断，并促进有效的治疗和适当的遗传咨询。
