CHU Lille, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Lille, France; University of Lille, ULR7364-RADEME, Lille, France; Department of Pediatric Neurology, Saint Vincent de Paul Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Catholic University of Lille, Lille, France.
CHU Lille, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Lille, France.
Pediatr Neurol. 2023 Feb;139:22-23. doi: 10.1016/j.pediatrneurol.2022.11.003. Epub 2022 Nov 19.
Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. To date, CACNA1G mutations have been reported in autosomal dominant spinocerebellar ataxia designated SCA42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of PTU type.
We report the case of a two-month-old infant with a de novo pathogenic variation of CACNA1G who presented with PTU associated with congenital ataxia and other periodic neurological manifestations.
Although the link between CACNA1G mutations and periodic neurological manifestations remains unclear, we provide detailed video documentations of PTU, paroxysmal torticollis, and ataxia in a patient with a CACNA1G mutation. This case allows a better understanding of the underlying mechanisms of PTU and suggests potential new avenues for clinical treatments.
阵发性强直上视（PTU）定义为眼球的不自主向上运动，被认为是良性现象，但也可能与共济失调和发育迟缓有关。迄今为止，钙通道电压依赖性 L 型亚基α 1G 基因（CACNA1G）突变已在常染色体显性遗传性小脑共济失调命名为 SCA42 和伴有小脑萎缩的早期脑病中报道过，但从未在周期性儿童发作性 PTU 型中报道过。
我们报告了一例 2 个月大的婴儿，携带 CACNA1G 的新生致病性变异，表现为与先天性共济失调和其他周期性神经表现相关的 PTU。
尽管 CACNA1G 突变与周期性神经表现之间的联系仍不清楚，但我们提供了一名 CACNA1G 突变患者的 PTU、阵发性斜颈和共济失调的详细视频记录。该病例有助于更好地了解 PTU 的潜在机制，并为临床治疗提供了新的潜在途径。
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