ATP1A3 交替性偏瘫

Q4 Medicine
M. P. Afanasyeva, E. D. Belousova, A. A. Sharkov
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引用次数: 0

摘要

交替性偏瘫(AH)是一种罕见且研究较少的疾病。交替性偏瘫的特征是早期发作性偏瘫(从几分钟到几天不等)、异常运动和认知,并可能发展为神经系统缺陷。对遗传基础的研究发现,编码 Na+/K+-ATPase alfa-3 亚基的 ATP1A3 基因发生了突变。在研究中,基因数据被认为是最重要的预后信息。由于该病的某些症状与癫痫相似,且在神经视觉上没有偏差,因此诊断难度很大。本文试图总结世界科学经验,确定最重要的研究方向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ATP1A3-alternating hemiplegia
Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.
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来源期刊
Russian Neurological Journal
Russian Neurological Journal Medicine-Neurology (clinical)
CiteScore
0.40
自引率
0.00%
发文量
49
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