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遗传性痉挛性截瘫之谜:从流行病学到治疗。

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

机构信息

Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.

Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru 560029, India.

出版信息

Int J Mol Sci. 2022 Jul 11;23(14):7665. doi: 10.3390/ijms23147665.

Abstract

Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formation, endoplasmic reticulum shaping, axon transport, endosome trafficking, and mitochondrial function. With the inheritance patterns of autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial inheritance, HSP is prevalent around the globe at a rate of 1-5 cases in every 100,000 individuals. Recent technology and medical interventions somewhat aid in recognizing and managing the malaise. However, HSP still lacks an appropriate and adequate therapeutic approach. Current therapies are based on the clinical manifestations observed in the patients, for example, smoothing the relaxant spastic muscle and physiotherapies. The limited clinical trial studies contribute to the absence of specific pharmaceuticals for HSPs. Our current work briefly explains the causative genes, epidemiology, underlying mechanism, and the management approach undertaken to date. We have also mentioned the latest approved drugs to summarise the available knowledge on therapeutic strategies for HSP.

摘要

以下是翻译后的内容

遗传性神经退行性疾病的特征是下肢肌肉张力降低和痉挛性张力增加,这种疾病被称为遗传性痉挛性截瘫 (HSP)。HSP 与大约 80 个基因及其产物的变化有关,这些基因及其产物参与各种生化途径,如脂滴形成、内质网成形、轴突运输、内体运输和线粒体功能。HSP 的遗传模式包括常染色体显性遗传、常染色体隐性遗传、X 连锁隐性遗传和线粒体遗传,在全球范围内的患病率为每 10 万人中有 1-5 例。最近的技术和医疗干预措施在一定程度上有助于识别和治疗这种疾病。然而,HSP 仍然缺乏适当和充分的治疗方法。目前的治疗方法是基于患者观察到的临床表现,例如,缓解松弛性痉挛肌肉和物理疗法。有限的临床试验研究导致缺乏针对 HSP 的特定药物。我们目前的工作简要解释了致病基因、流行病学、潜在机制以及迄今为止采取的管理方法。我们还提到了最新批准的药物,以总结 HSP 治疗策略的现有知识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b6c/9321931/5faa6d880347/ijms-23-07665-g001.jpg

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