de Gusmao Claudio M, Dy Marisela, Sharma Nutan
Department of Neurology Massachusetts General Hospital Boston Massachusetts USA.
Department of Neurology Boston Children's Hospital Boston Massachusetts USA.
Mov Disord Clin Pract. 2016 Jan 29;3(4):402-404. doi: 10.1002/mdc3.12317. eCollection 2016 Jul-Aug.
Mutations in the ATP1A3 gene (the α-3 subunit of the Na/K ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy at age 20 years. In all cases, deleterious mutations were identified in ATP1A3. They illustrate wide phenotypic variability, including chorea and ataxia. New cases are likely to be diagnosed as knowledge about the phenotypic spectrum expands.
ATP1A3基因（钠钾ATP酶的α-3亚基）突变与快速起病的肌张力障碍-帕金森综合征、儿童交替性偏瘫以及小脑共济失调、无反射、高弓足、视神经萎缩和感音神经性听力丧失（CAPOS综合征）相关。作者报告了3例具有多效性运动障碍的病例，包括1例出现共济失调和吞咽困难患者的新突变。病例1有注意力缺陷多动障碍病史，12岁时发热性疾病后出现吞咽困难、舞蹈症和肢体肌张力障碍。病例2在26岁时出现肢体肌张力障碍，发热性疾病后出现构音障碍和吞咽困难。病例3有学习障碍病史，20岁时出现进行性共济失调伴小脑萎缩。在所有病例中，均在ATP1A3中鉴定出有害突变。它们说明了广泛的表型变异性，包括舞蹈症和共济失调。随着对表型谱的认识不断扩大，可能会诊断出更多新病例。
