ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
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DOI：
10.1111/j.1469-8749.2012.04421.x
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发表时间：
2012-11
影响因子：
3.8
通讯作者：
Morrison L
中科院分区：
文献类型：
--
作者：
Brashear A;Mink JW;Hill DF;Boggs N;McCall WV;Stacy MA;Snively B;Light LS;Sweadner KJ;Ozelius LJ;Morrison L
我们报道了两个携带ATP1A3基因突变（R756H和D923N）的幼儿运动发育迟缓、张力低下和共济失调的新临床特征。在成人中，ATP1A3突变导致快速发作的肌张力障碍-帕金森病（RDP, DYT12），并伴有突然发作的固定肌张力障碍。对父母和孩子进行检查和录像，并收集样本进行突变分析。病例1在9个月时出现张力低下、吞咽困难、缄默症、张力障碍和共济失调的波动发作。三次张力不足发作后，她出现共济失调，无法说话或吞咽，最终癫痫发作。病例2在14个月时表现为张力过低和先前存在的运动迟缓。4岁时，他出现间歇性言语不清，随后出现共济失调、流口水和构音障碍。他保持沉默。两个孩子都有ATP1A3基因突变。据我们所知，这些是RDP最早的表现，都有波动的特征。这两个孩子最初都被误诊了。在步态不协调、言语和吞咽困难的儿童中应考虑RDP。
We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9 months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14 months and pre-existing motor delay. At age 4 years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.
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影响因子：
4.4
作者：
Zanotti-Fregonara, Paolo;Vidailhet, Marie;Roze, Emmanuel
通讯作者：
Roze, Emmanuel
影响因子：
14.5
作者：
Brashear, Allison;Dobyns, William B.;Ozelius, Laurie J.
通讯作者：
Ozelius, Laurie J.
影响因子：
16.2
作者：
Aguiar, PD;Sweadner, KJ;Ozelius, LJ
通讯作者：
Ozelius, LJ
影响因子：
9.9
作者：
Jurkat-Rott, K;Freilinger, T;Dichgans, M
通讯作者：
Dichgans, M
影响因子：
8.6
作者：
Brashear, A;Farlow, MR;Dobyns, WB
通讯作者：
Dobyns, WB