Paris Brain Institute (ICM), Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Paris, France.
Paris Brain Institute (ICM), Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Genetics Department, Pitié-Salpêtrière University Hospital, Paris, France.
Rev Neurol (Paris). 2021 May;177(5):550-556. doi: 10.1016/j.neurol.2020.07.001. Epub 2020 Aug 15.
Hereditary spastic paraparesis is a group of inherited neurological diseases characterized by underlying wide genetic heterogeneity. It should be suspected if there is a positive familial history, a common genetic alteration (i.e. SPG4, the most overall frequent form), or association with other signs, such as cerebellar ataxia (i.e. SPG7), early cognitive impairment or even cognitive deficit (i.e. SPG11), or peripheral neuropathy (i.e. SACS). The natural history is known for certain genetic subgroups, with genotype-phenotype correlations partially explaining childhood or late onset. However, the search for genetic modifying factors, in addition to the causal pathogenic variant or environmental influencers, is still needed. Novel approaches to provide etiological treatment are in the pipeline for SPG11. Symptomatic treatments are available but would benefit from randomized controlled trials.
遗传性痉挛性截瘫是一组以遗传异质性广泛为特征的遗传性神经疾病。如果存在阳性家族史、常见的遗传改变（即最常见的 SPG4 形式）或与其他体征相关，如小脑共济失调（即 SPG7）、早期认知障碍甚至认知缺陷（即 SPG11）或周围神经病（即 SACS），则应怀疑存在遗传性痉挛性截瘫。某些遗传亚组的自然病史是已知的，基因型-表型相关性部分解释了儿童期或迟发性发病。然而，除了寻找因果致病性变异或环境影响因素外，还需要寻找遗传修饰因子。SPG11 的病因治疗新方法正在研究中。虽然有对症治疗方法，但需要进行随机对照试验。
