Bamaga Ahmed K, Alyazidi Anas S, Alali Feryal K
Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Brain Sci. 2025 Apr 17;15(4):403. doi: 10.3390/brainsci15040403.
Inherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction. These disorders are classified into various subgroups, including hereditary sensory and motor neuropathies, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, and more complex forms. Advances in genetic testing, particularly next-generation sequencing (NGS), have significantly improved the identification of these disorders. Emerging therapies, such as gene therapy, small molecule therapies, and antisense oligonucleotides, offer promising treatment options. However, current treatments remain limited, and their clinical benefits in humans are not yet fully established. This review provides a comprehensive overview of recent developments and evolving therapeutic options for hereditary neuropathies, focusing on gene therapy, small molecule therapies, and antisense oligonucleotides. It also highlights the current state of inherited neuropathies in Saudi Arabia, emphasizing the need for national guidelines, patient registries, and collaborative research efforts. By integrating advanced genomic technologies and fostering international collaboration, we can improve the diagnosis, management, and treatment outcomes for patients with inherited neuropathies.
遗传性神经病是一组影响周围神经系统的异质性疾病，可导致运动、感觉和自主神经功能障碍。这些疾病被分为多个亚组，包括遗传性感觉和运动神经病、远端遗传性运动神经病、遗传性感觉和自主神经病以及更复杂的类型。基因检测技术的进步，特别是下一代测序（NGS），显著提高了对这些疾病的识别能力。新兴疗法，如基因疗法、小分子疗法和反义寡核苷酸，提供了有前景的治疗选择。然而，目前的治疗方法仍然有限，其在人类中的临床益处尚未完全确立。本综述全面概述了遗传性神经病的最新进展和不断发展的治疗选择，重点关注基因疗法、小分子疗法和反义寡核苷酸。它还强调了沙特阿拉伯遗传性神经病的现状，强调了制定国家指南、建立患者登记册和开展合作研究的必要性。通过整合先进的基因组技术并促进国际合作，我们可以改善遗传性神经病患者的诊断、管理和治疗效果。
