Panza Emanuele, Orlacchio Antonio
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, 40138 Bologna, Italy.
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Int J Mol Sci. 2025 Feb 24;26(5):1950. doi: 10.3390/ijms26051950.
Hereditary spastic paraplegias (HSPs) represent a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs, with no specific treatment available for patients. At the same time, the molecular diagnosis is complicated by the high genetic heterogeneity of this group of diseases, and it can be challenging due to overlapping clinical features with other conditions. Reliable biomarkers could play a fundamental role in diagnosis, prognosis, and therapeutic interventions for HSPs. For this reason, it is necessary to increase the search for biomarkers that can be used to rapidly classify HSPs, follow the natural history of the conditions, and monitor disease correction therapies. This article provides an overview of the current understanding of biomarkers in HSPs, including genetic, biochemical, and clinical biomarkers and new cell imaging-based approaches. In this manuscript, we aim to provide an overview of the current situation in HSP biomarkers, emphasizing the limitations and the necessity of conducting more studies in this field.
遗传性痉挛性截瘫(HSPs)是一组神经退行性疾病,其特征为下肢进行性痉挛和无力,目前尚无针对患者的特效治疗方法。与此同时,由于这类疾病的遗传异质性高,分子诊断较为复杂,而且由于其临床特征与其他病症重叠,诊断颇具挑战性。可靠的生物标志物在HSPs的诊断、预后及治疗干预中可发挥重要作用。因此,有必要加大对生物标志物的探索力度,以用于快速对HSPs进行分类、追踪病情的自然发展过程以及监测疾病矫正疗法。本文概述了目前对HSPs生物标志物的认识,包括遗传、生化和临床生物标志物以及基于细胞成像的新方法。在本论文中,我们旨在概述HSP生物标志物的现状,强调其局限性以及在该领域开展更多研究的必要性。