遗传性痉挛性截瘫(HSPs)大多源于与神经长度相关的皮质脊髓束轴索末梢变性,患病率大约为18/10万人。临床上可分为两种类型,即单纯型和复杂型,单纯型表现为逐渐进展的双下肢痉挛、步态不稳、腱反射亢进,可以合并膀胱括约肌功能障碍;复杂型除了上述临床表现外,还可伴有脊髓外损害表现,如精神发育迟滞、锥体外系症状、共济失调、视神经萎缩、视网膜色素变性、耳聋、肌肉萎缩、多发性神经病等。


The hereditary spastic paraplegias (HSPs) are in most cases caused by a length-dependent, distal degeneration of corticospinal tract axons. HSPs are estimated to have a prevalence of up to 18 per 100,000 of a population. HSPs can be divided into ‘pure’ forms, in which only spastic paraplegia occurs, and ‘complex’ or ‘complicated’ forms, characterized by additional clinical features.