A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
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DOI：
10.1136/jmg.2003.017863
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发表时间：
2004-08-01
影响因子：
4
通讯作者：
Casari, G
中科院分区：
文献类型：
--
作者：
Bassi, MT;Bresolin, N;Casari, G
儿童交替性偏瘫（AHC，MIM 104290）是一种罕见的综合征，其特征是早期发作的发作性偏瘫或四肢瘫痪持续数分钟至数天。这种疾病首先由Verret和Steel在1971年报道，1历史上被认为是偏头痛的等价物1或癫痫或运动障碍的不寻常形式，2因为它通常呈现复杂和可变的临床特征。在大多数患者中，与AHC明显相关的最早表现是强直性-与自主神经变化和阵发性呼吸困难相关的肌张力障碍发作和阵发性眼球震颤，通常出现在3至6个月大的婴儿之间。偏瘫发作发生在18个月之前，每次持续数分钟至数天，并涉及身体的任何一侧或在同一发作期间从一侧转移到另一侧，当第二侧受累时，双侧无力。3
Alternating hemiplegia of childhood (AHC, MIM 104290) is a rare syndrome, characterised by early onset of episodic hemi-or quadriplegia lasting minutes to days. This disorder, first reported by Verret and Steel in 1971, 1 has historically been thought to represent a migraine equivalent1 or an unusual form of epilepsy or a movement disorder, 2 as it typically presents with complex and variable clinical features.In most patients, the earliest manifestations clearly related to AHC are tonic–dystonic attacks and paroxysmal nystagmus associated with autonomic changes and paroxysmal dyspnoea and usually appear between 3 and 6 months of age. The hemiplegic episodes develop before 18 months of age lasting anywhere from minutes to days at a time and involving either side of the body or shifting from one side to the other during the same episode with a period of bilateral weakness when the second side becomes involved. 3