Mutations in ATP1A3, which encodes the α3 subunit of Na, K-ATPase, produce various neurologic and psychological disorders that are increasingly believed to be on a continuum, from severe infantile presentations to adult-onset movement disorders. We present evidence that a single codon deletion can nonetheless produce a typical syndrome of rapid onset dystonia-parkinsonism (RDP, DYT/PARK-ATP1A3, OMIM 128235).¹ The novel heterozygous mutation p.Phe297del (c.889-891delTTC in NM_152296) was identified in 4 patients in 3 different countries with different genetic backgrounds, European, Japanese, and mixed. This supports the idea that there are discrete mutation-related syndromes underlying the continuum of ATP1A3 phenotypes.

编码 Na、K-ATP 酶的 α3 亚基的ATP1A3突变会产生各种神经和心理疾病，这些疾病越来越多地被认为是连续的，从严重的婴儿表现到成人发病的运动障碍。我们提供的证据表明，单个密码子缺失仍然会产生典型的快速发作性肌张力障碍-帕金森综合征综合征（RDP、DYT/PARK- ATP1A3、OMIM 128235）。¹新杂合突变 p.Phe297del（c.889-891delTTC in NM_152296）在具有不同遗传背景（欧洲、日本和混合）的 3 个不同国家的 4 名患者中发现。这支持了以下观点，即在ATP1A3表型的连续体中存在离散的突变相关综合征。