At the end of 19th century, Adolf von Strümpell and Sigmund Freud independently described the symptoms of a new pathology now known as hereditary spastic paraplegia (HSP). HSP is part of the group of genetic neurodegenerative diseases usually associated with slow progressive pyramidal syndrome, spasticity, weakness of the lower limbs, and distal-end degeneration of motor neuron long axons. Patients are typically characterized by gait symptoms (with or without other neurological disorders), which can appear both in young and adult ages depending on the different HSP forms. The disease prevalence is at 1.3–9.6 in 100 000 individuals in different areas of the world, making HSP part of the group of rare neurodegenerative diseases. Thus far, there are no specific clinical and paraclinical tests, and DNA analysis is still the only strategy to obtain a certain diagnosis. For these reasons, it is mandatory to extend the knowledge on genetic causes, pathology mechanism, and disease progression to give clinicians more tools to obtain early diagnosis, better therapeutic strategies, and examination tests. This review gives an overview of HSP pathologies and general insights to a specific HSP subtype called spastic paraplegia 31 (SPG31), which rises after mutation of REEP1 gene. In fact, recent findings discovered an interesting endoplasmic reticulum antistress function of REEP1 and a role of this protein in preventing τ accumulation in animal models. For this reason, this work tries to elucidate the main aspects of REEP1, which are described in the literature, to better understand its role in SPG31 HSP and other pathologies.

中文翻译：

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REEP1 的完整概述：关于其在遗传性痉挛性截瘫和神经变性中的作用的新旧见解。

19 世纪末，Adolf von Strümpell 和 Sigmund Freud 独立描述了一种现在称为遗传性痉挛性截瘫 (HSP) 的新病理症状。HSP 是遗传性神经退行性疾病的一部分，通常与缓慢进行性锥体综合征、痉挛、下肢无力和运动神经元长轴突的远端变性有关。患者的典型特征是步态症状（有或没有其他神经系统疾病），根据不同的 HSP 形式，这些症状可能出现在年轻和成年阶段。世界不同地区的 10 万人中有 1.3-9.6 人患病，使 HSP 成为罕见的神经退行性疾病的一部分。到目前为止，还没有具体的临床和副临床试验，DNA分析仍然是获得某种诊断的唯一策略。由于这些原因，必须扩展有关遗传原因、病理机制和疾病进展的知识，以便为临床医生提供更多工具来获得早期诊断、更好的治疗策略和检查测试。本综述概述了 HSP 病理学和对称为痉挛性截瘫 31 (SPG31) 的特定 HSP 亚型的一般见解，该亚型在REEP1基因。事实上，最近的研究结果发现了 REEP1 有趣的内质网抗应激功能，以及该蛋白在动物模型中防止 τ 积累的作用。因此，这项工作试图阐明文献中描述的 REEP1 的主要方面，以更好地了解其在 SPG31 HSP 和其他病理中的作用。