CACNA1A基因突变导致阵发性强直性上视分析并文献复习

摘要

<正>阵发性强直性上视（paroxysmaltonicupgaze, PTU）是一种婴儿时期眼部肌张力障碍的临床表现，由Ouvrier等^[1]于1988年总结报道，表现为不伴有意识障碍的眼睛持续不定的向上凝视。发病年龄范围较广，出现在1月～9岁儿童，以2岁以内儿童常见，在发热、接种疫苗、疲劳、应激事件、仰卧位等诱因下出现。发作频率不定，每天2～3次至10次以上不等，每次持续时间约2～3h, 睡眠休息能缓解发作^[2]。

关键词

阵发性强直性上视 / CACNA1A基因 / 发育迟缓 / 共济失调

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基金资助

甘肃省教育科技创新项目(2022B-024)