The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients. For the purpose of this study, we carried a non-systematic review on PUBMED, finding an initial sample of 122 papers; upon refining, 41 articles were found relevant to this review. Subsequently, we added review articles and works with historical relevance, totalizing 76 references. An adequate diagnostic workup in patients presenting with spastic paraplegia phenotype should include screening for these rare conditions, followed by parsimonious ancillary investigation.

遗传性痉挛性截瘫综合征组具有异质的临床特征和广泛的鉴别诊断，包括潜在可治疗的神经代谢疾病。该组包括 5,10-亚甲基四氢叶酸还原酶缺乏症、钴胺素 C 缺乏症、多巴胺反应性肌张力障碍、脑腱性黄色瘤病、生物素酶缺乏症、GLUT1 缺乏综合征、δ-e-吡咯啉-羧化酶-合成酶缺乏症、高鸟氨酸血症-高氨血症-高瓜氨酸尿症综合征、精氨酸酶缺乏症、多种羧化酶缺乏和 X 连锁肾上腺脑白质营养不良。这篇综述详细描述了这些疾病，强调了早期诊断和有效治疗以保持这些患者的功能和生活质量的重要性。就本研究而言，我们对 PUBMED 进行了非系统审查，找到了 122 篇论文的初始样本；精炼后，发现与本次审查相关的文章41篇。随后，我们添加了具有历史相关性的评论文章和作品，总计 76 篇参考文献。对出现痉挛性截瘫表型的患者进行充分的诊断检查应包括筛查这些罕见疾病，然后进行简约的辅助检查。