ATP1A3突变的中间表型：表型-基因型相关性
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
作者信息
Termsarasab Pichet, Yang Amy C, Frucht Steven J
机构信息
Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015.
BACKGROUND
ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).
CASE REPORT
We report two cases with intermediate forms between RDP and AHC. Patient 1 initially presented with the AHC phenotype, but the RDP phenotype emerged at age 14 years. The second patient presented with levodopa-responsive paroxysmal oculogyria, a finding never before reported in ATP1A3-related disorders. Genetic testing confirmed heterozygous changes in the ATP1A3 gene in both patients, one of them novel.
DISCUSSION
Intermediate phenotypes of RDP and AHC support the concept that these two disorders are part of a spectrum. We add our cases to the phenotype-genotype correlations of ATP1A3-related disorders.
背景
与ATP1A3相关的疾病包括快速起病的肌张力障碍-帕金森综合征（RDP或DYT12）、儿童交替性偏瘫（AHC）和CAPOS综合征（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损失）。
病例报告
我们报告了两例RDP和AHC之间中间型的病例。患者1最初表现为AHC表型，但在14岁时出现了RDP表型。第二例患者表现为左旋多巴反应性阵发性动眼危象，这是之前在与ATP1A3相关的疾病中从未报道过的发现。基因检测证实两名患者的ATP1A3基因均存在杂合变化，其中一个是新发现的。
讨论
RDP和AHC的中间型表型支持了这两种疾病属于同一谱系的概念。我们将我们的病例加入到与ATP1A3相关疾病的表型-基因型相关性研究中。
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