治疗共济失调性远端血管扩张症的最新进展：叙述性综述。

IF 2.7 3区医学 Q3 NEUROSCIENCES Cerebellum Pub Date : 2024-09-27 DOI:10.1007/s12311-024-01746-2

Ali Mehri, Mehran Beiraghi Toosi, Ali Reza Tavasoli, Maryam Saberi-Karimian

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引用次数: 0

摘要

共济失调毛细血管扩张症（AT），即路易-巴尔综合征，是一种罕见的神经退行性疾病，由共济失调毛细血管扩张症突变（ATM）基因的常染色体隐性双重复突变引起。目前，这种疾病还没有治疗方法。本综述概述了治疗方法的最新进展，包括：1- 乙酰基-DL-亮氨酸；2- 骨髓移植；3- 基因治疗；4- 地塞米松；以及 5-红细胞作为地塞米松的载体（将地塞米松磷酸钠封装到自体红细胞中，称为 EryDex）。除 EryDex 系统外，大多数研究中的治疗方法都处于早期阶段。EryDex 系统和 N-乙酰基-DL-亮氨酸似乎有望成为潜在的治疗方案。

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The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review.

Ataxia telangiectasia (AT), Louis-Bar syndrome, is a rare neurodegenerative disorder caused by autosomal recessive biallelic mutations within the ataxia telangiectasia mutated (ATM) gene. Currently, there are no curative therapies available for this disorder. This review provides an overview of the latest advances in treatment methods including 1- Acetyl-DL-leucine, 2- Bone Marrow Transplantation, 3- Gene Therapy, 4- Dexamethasone, and finally 5- Red Blood Cells (RBCs) as a carrier for dexamethasone (encapsulation of dexamethasone sodium phosphate into autologous erythrocytes, known as EryDex). Most of the treatments under investigation are in the early stages, except for the EryDex System. It appears that the EryDex system and N-Acetyl-DL-Leucine may hold promise as potential treatment options.

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来源期刊

Cerebellum 医学-神经科学

CiteScore

6.40

自引率

14.30%

发文量

150

审稿时长

4-8 weeks

期刊介绍： Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction. The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging. The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.