ATP1A3 可能导致遗传性痉挛性截瘫:一名下肢痉挛和智力障碍患者的病例报告

Satomi Okano , Yoshio Makita , Yuki Ueda , Akie Miyamoto , Hajime Tanaka , Kumiko Yanagi , Tadashi Kaname
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引用次数: 0

摘要

背景钠/钾(Na+/K+)ATP酶是一种异构蛋白复合物,负责维持神经元质膜上的Na+/K+电化学梯度。由 ATP1A3 编码的 Na+/K+ ATPase 的 α3 异构体是一种救援泵,主要存在于中枢神经系统的神经元中。ATP1A3 的新生变异可导致几种不同的神经系统综合征。本病例中,一名无神经系统疾病家族史的男孩携带 ATP1A3 的新生致病变异 NM_152296:c.974G>T,p.Gly325Val。讨论与结论以往的研究表明,ATP1A3变异p.Gly325是肌张力障碍、面部畸形、脑病、脑磁共振成像异常的致病基因,但没有出现偏瘫。最近的一项研究首次发现,痉挛性截瘫的发生是新生 ATP1A3 p.Pro775Leu 致病变异体的一种表现。在这一病例报告中,我们得出结论,ATP1A3 的另一个从头致病变异 p.Gly325Val 在该例患者中表现为痉挛性截瘫和智力残疾。这些结果表明,ATP1A3 是遗传性痉挛性截瘫的新型致病基因。
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ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability

Background

Sodium/potassium (Na+/K+) ATPase is a heteromeric protein complex responsible for maintaining the Na+/K+ electrochemical gradient across the neuronal plasma membrane. The α3 isoform of the Na+/K+ ATPase, encoded by ATP1A3, acts as a rescue pump and is predominantly present in the neurons of the central nervous system. The de novo variants of ATP1A3 cause several distinct neurological syndromes.

Case

We presented the case of a boy with no family history of neurological diseases who was harboring a de novo pathogenic variation, NM_152296:c.974G > T, p.Gly325Val, in ATP1A3. He presented with a rare spastic paraplegia of the lower extremities, autism spectrum disorder, and intellectual disability.

Discussion and conclusion

Previous studies have demonstrated the ATP1A3 variant p.Gly325 to be pathogenic for dystonia, face dysmorphia, encephalopathy, brain magnetic resonance imaging abnormalities, and no hemiplegia. A recent study has revealed, for the first time, the development of spastic paraplegia as a manifestation of the de novo ATP1A3 p.Pro775Leu pathogenic variant. In this case report, we concluded that another de novo pathogenic variation in ATP1A3, p.Gly325Val, manifests as spastic paraplegia and intellectual disability in the index patient. These results suggest that ATP1A3 is a novel causative gene of hereditary spastic paraplegia.

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