n -乙酰亮氨酸在进行性CACNA1A共济失调中的作用：一个病例系列

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI:10.1016/j.ejpn.2024.12.006

K. Martakis , M. Giorgi , M. Spanou , B.A. Neubauer , A. Dinopoulos , A. Hahn

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引用次数: 0

摘要

背景：cacna1a相关疾病是罕见且进行性的；到目前为止，还没有批准的治疗方法。n -乙酰亮氨酸（NAL）在失调、认知障碍和癫痫等疾病中的疗效得到证实。因此，我们假设NAL可能对cacna1a相关疾病有效。4例患者（1名男孩，15岁，3名女孩，5岁，9岁和14岁）接受NAL作为个体化的标签外治疗，并使用SARA评分，SCAFI和CGI-I进行评估。在所有儿童中，NAL导致共济失调的快速改善（步态，平衡，精细运动和语言-首次随访时平均SARA改善：3.25分）。改善持续了3年（平均长期SARA改善：5.13分）。SCAFI和CGI-I也有类似的改善。NAL耐受性良好，无不良反应。结论n -乙酰亮氨酸是一种治疗迄今无法治愈的罕见疾病的新方法。这种持续的益处可能反映了在其他人群中看到的神经保护作用。需要临床试验来控制结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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N-Acetyl-leucine in progressive CACNA1A ataxia: A case series

Background

CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.

Cases

Four patients (1 boy, age 15 years, 3 girls, age 5, 9, and 14) received NAL as individualized off-label treatment and were assessed using the SARA Score, SCAFI and CGI-I. In all children NAL resulted in rapid improvement of ataxia, (gait, balance, fine motor and speech - mean SARA improvement at first follow-up: 3.25 points). Improvement was sustained up to 3 years (mean long-term SARA improvement: 5.13 points). SCAFI and CGI-I showed similar improvement. NAL was well-tolerated, without adverse reactions.

Conclusions

N-acetyl-leucine is a novel potential treatment for a so far untreatable rare disease spectrum of CACNA1A-disorders. The sustained benefit may reflect neuroprotective effects seen in other populations. Clinical trials are needed to control the results.

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来源期刊

European Journal of Paediatric Neurology 医学-临床神经学

CiteScore

6.30

自引率

3.20%

发文量

115

审稿时长

81 days

期刊介绍： The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies. Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability. Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.