垂直性眼球震颤为 PIGN 相关糖基磷脂酰肌醇生物合成缺陷的特征。
Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.
机构信息
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Clinic of Paediatric Neurology, Institute of Mother and Child, Warsaw, Poland.
出版信息
Clin Neurol Neurosurg. 2020 Sep;196:106033. doi: 10.1016/j.clineuro.2020.106033. Epub 2020 Jun 18.
Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of vertical nystagmus in the evaluation of patients with developmental encephalopathy with epilepsy, which may accelerate the neurological diagnosis process by orientating it towards PIGN-GPIBD.
垂直性眼球震颤是一种已知的临床特征，但在特定的神经发育障碍中很少观察到。基于我们对波兰患有糖基磷脂酰肌醇生物合成缺陷（GPIBD）的患者的经验（这些患者的 PIGN 变异导致了 GPIBD），并结合文献复习，我们验证了这种特征在 PIGN 相关疾病中的临床意义。我们希望强调垂直性眼球震颤在评估伴有癫痫的发育性脑病患者中的临床意义，这可能通过将其指向 PIGN-GPIBD 来加速神经学诊断过程。
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