Meyyazhagan Arun, Orlacchio Antonio
Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.
Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, 00143 Rome, Italy.
Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697.
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord's lateral region, comprising the corticospinal routes. The prevalence ranges from 0.1 to 9.6 subjects per 100,000 reported around the globe. Though modern medical interventions help recognize and manage the disorder, the symptomatic measures remain below satisfaction. The present review assimilates the available data on HSP and lists down the chromosomes involved in its pathophysiology and the mutations observed in the respective genes on the chromosomes. It also sheds light on the treatment available along with the oral/intrathecal medications, physical therapies, and surgical interventions. Finally, we have discussed the related diagnostic techniques as well as the linked pharmacogenomics studies under future perspectives.
遗传性痉挛性截瘫(HSP)是一种罕见的神经退行性疾病,主要临床表现为下肢痉挛。HSP根据遗传方式、表型特征和分子病理生理学模式进行分类,常伴有颈胸段脊髓外侧区域(包括皮质脊髓束)轴突的退变。全球报告的患病率为每10万人中有0.1至9.6人。尽管现代医学干预有助于识别和管理该疾病,但症状治疗措施仍不尽人意。本综述汇总了关于HSP的现有数据,列出了其病理生理学中涉及的染色体以及在这些染色体上各自基因中观察到的突变。它还阐述了现有的治疗方法,包括口服/鞘内药物、物理治疗和手术干预。最后,我们从未来展望的角度讨论了相关的诊断技术以及相关的药物基因组学研究。
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