Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy; Dipartimento di Medicina dei Sistemi, Università di Roma "Tor Vergata", Rome, Italy.
Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy.
Exp Neurol. 2014 Nov;261:518-39. doi: 10.1016/j.expneurol.2014.06.011. Epub 2014 Jun 20.
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spastic paraplegia genes (SPGs) have been identified. All modes of inheritance (autosomal dominant, autosomal recessive, and X-linked) have been described. Recently, a late onset spastic gait disorder with maternal trait of inheritance has been reported, as well as mutations in genes not yet classified as spastic gait disease. Several cellular processes are involved in its pathogenesis, such as membrane and axonal transport, endoplasmic reticulum membrane modeling and shaping, mitochondrial function, DNA repair, autophagy, and abnormalities in lipid metabolism and myelination processes. Moreover, recent evidences have been found about the impairment of endosome membrane trafficking in vesicle formation and about the involvement of oxidative stress and mtDNA polymorphisms in the onset of the disease. Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.
遗传性痉挛性截瘫(HSP)是一组临床和遗传异质性的神经系统疾病,其病理生理学特征为皮质脊髓束的长度依赖性远端轴索性变性。这种病理状况的突出特征是下肢进行性痉挛和无力。迄今为止,已经确定了 72 个痉挛步态疾病基因座和 55 个痉挛性截瘫基因(SPG)。已描述了所有遗传方式(常染色体显性遗传、常染色体隐性遗传和 X 连锁遗传)。最近,已经报道了一种具有母系遗传的迟发性痉挛步态障碍,以及尚未分类为痉挛步态疾病的基因突变。其发病机制涉及多种细胞过程,如膜和轴突运输、内质网膜建模和成形、线粒体功能、DNA 修复、自噬以及脂质代谢和髓鞘形成过程的异常。此外,最近还发现了内体膜运输在囊泡形成中的损伤,以及氧化应激和 mtDNA 多态性在疾病发病中的作用。通过痉挛性截瘫基因的生物信息学和生物学分析,提出了相互作用网络,这将有助于开发新的治疗方法。
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