Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.

IF 1.4 Q2 MEDICINE, GENERAL & INTERNAL Rambam Maimonides Medical Journal Pub Date : 2024-07-30 DOI:10.5041/RMMJ.10529
Jamir Pitton Rissardo, Nilofar Murtaza Vora, Yogendra Singh, Sweta Kishore, Ana Letícia Fornari Caprara
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Abstract

Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age. Mutations in the ATP1A3 gene, mainly p.Asp801Asn, p.Glu815Lys, and p.Gly947Arg at the protein level, are found in around 80% of the individuals with AHC. Interestingly, these mutations reflect the degree of severity of the neurological symptoms (p.Glu815Lys > p.Asp801Asn > p.Gly947Arg). Some channels involved in this disorder are N-type voltage-gated calcium channels, ATP-sensitive potassium channels, and the sodium/calcium exchanger. In this context, the management of AHC should be divided into the treatment of attacks, prophylactic treatment, and management of comorbidities commonly found in this group of individuals, including epilepsy, attention-deficit/hyperactivity disorder, aggressive behavior, cognitive impairment, movement disorders, and migraine. The importance of an integrated approach with a multidisciplinary team, such as neuropsychologists and dietitians, is worth mentioning, as well as the follow-up with a neurologist. In the present study, we propose new diagnostic criteria for AHC, dividing it into clinical, laboratory, supporting, and atypical features. Also, we review the location of the mutations in the ATP1A3 protein of individuals with AHC, rapid-onset dystonia-parkinsonism (RDP) variants, and early infantile epileptic encephalopathy (variants with hemiplegic attack). We also include a section about the animal models for ATP1A3 disorders.

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驾驭儿童交替性偏瘫的复杂性:全面回顾。
儿童交替性偏瘫(AHC)是一种复杂的神经发育障碍,其特征是阵发性和短暂性的单侧或双侧瘫痪,通常发生在 18 个月之前。约 80% 的 AHC 患者体内存在 ATP1A3 基因突变,主要是蛋白水平的 p.Asp801Asn、p.Glu815Lys 和 p.Gly947Arg。有趣的是,这些突变反映了神经症状的严重程度(p.Glu815Lys > p.Asp801Asn > p.Gly947Arg)。这种疾病涉及的一些通道包括 N 型电压门控钙通道、ATP 敏感钾通道和钠/钙交换通道。在这种情况下,AHC 的治疗应分为发作治疗、预防治疗和这类患者常见的合并症治疗,包括癫痫、注意力缺陷/多动障碍、攻击行为、认知障碍、运动障碍和偏头痛。值得一提的是,与神经心理学家和营养学家等多学科团队合作的综合方法以及神经科医生的随访都非常重要。在本研究中,我们提出了新的 AHC 诊断标准,将其分为临床特征、实验室特征、辅助特征和非典型特征。此外,我们还回顾了 AHC 患者、速发型肌张力障碍-帕金森病(RDP)变异型和早期婴儿癫痫性脑病(偏瘫发作变异型)患者 ATP1A3 蛋白突变的位置。我们还加入了有关 ATP1A3 疾病动物模型的部分。
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来源期刊
Rambam Maimonides Medical Journal
Rambam Maimonides Medical Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
6.70%
发文量
55
审稿时长
8 weeks
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