PDF(Pubmed)
Abstract：
While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.1909+22 variant. One of these patients showed expanded phenotypic spectrum of generalised dystonia and her sister remained asymptomatic except for hypodontia. Two patients with dystonic arm tremor responded to deep brain stimulation. In our systemic literature review, we found that POLR3A-related disorder with c.1909+22 variant has attenuated disease severity but frequency of dystonia and upper limb tremor did not differ among genotypes.
摘要：
虽然双等位基因POLR3A功能丧失变体传统上与髓鞘减少性脑白质营养不良有关，具有特定剪接变体c.1909+22G>A的患者表现为青少年发作的痉挛性共济失调，没有明显的脑白质营养不良。在这项研究中,我们报告了8例新病例,POLR3A相关疾病，具有c.1909+22变异。其中一名患者表现出广泛性肌张力障碍的表型谱，而她的姐姐除了低体外仍然无症状。两名患有肌张力障碍臂震颤的患者对深部脑刺激有反应。在我们的系统文献综述中，我们发现,c.1909+22变异的POLR3A相关疾病的病情严重程度有所减轻,但肌张力障碍和上肢震颤的频率在基因型之间没有差异.
