相同的ATP1A3突变导致儿童交替性偏瘫和快速进展性肌张力障碍帕金森综合征表型。
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
作者信息
Boelman Cyrus, Lagman-Bartolome Ana Marissa, MacGregor Daune L, McCabe Jane, Logan Willam J, Minassian Berge A
机构信息
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.
BACKGROUND
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3.
PATIENT
We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation.
RESULTS
Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case.
CONCLUSION
The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.
背景
儿童交替性偏瘫和快速进展性肌张力障碍帕金森综合征是两种不同的运动障碍，它们在同一钠钾转运ATP酶亚基基因ATP1A3中具有不同的显性突变。
患者
我们报告一名对托吡酯治疗有效的儿童交替性偏瘫患儿，对其进行了ATP1A3基因突变检测。
结果
基因测序显示该患儿存在与3例典型成人起病的快速进展性肌张力障碍帕金森综合征病例相同的ATP1A3突变，但此前从未在儿童交替性偏瘫病例中报道过。
结论
这些表型的不一致表明，存在其他未被发现的环境、遗传或表观遗传因素影响儿童交替性偏瘫或快速进展性肌张力障碍帕金森综合征的发生发展。
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