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Rev Neurol (Paris). 2020 May;176(4):225-234. doi: 10.1016/j.neurol.2019.11.003. Epub 2020 Jan 3.
Hereditary spastic paraplegia (HSP) is a group of rare neurological disorders, characterised by their extreme heterogeneity in both their clinical manifestations and genetic origins. Although Charles-Prosper Ollivier d'Angers (1796-1845) sketched out a suggestive description in 1827, it was Heinrich Erb (1840-1921) who described the clinical picture, in 1875, for "spastic spinal paralysis". Jean-Martin Charcot (1825-1893) began teaching the disorder as a clinical entity this same year. Adolf von Strümpell (1853-1925) recognised its hereditary nature in 1880 and Maurice Lorrain (1867-1956) gained posthumous fame for adding his name to that of Strümpell and forming the eponym after his 1898 thesis, the first review covering twenty-nine affected families. He benefited from the knowledge accumulated over a dozen years on this pathology by his teacher, Fulgence Raymond (1844-1910). Here I present a history across two centuries, leading to the clinical, anatomopathological, and genetic description of hereditary spastic paraplegia which today enables a better understanding of the causative cellular dysfunctions and makes it possible to envisage effective treatment.
遗传性痉挛性截瘫(HSP)是一组罕见的神经疾病,其临床表现和遗传起源都具有极高的异质性。尽管 Charles-Prosper Ollivier d'Angers(1796-1845 年)在 1827 年就对其进行了暗示性描述,但 Heinrich Erb(1840-1921 年)在 1875 年才对“痉挛性脊髓瘫痪”进行了临床描述。Jean-Martin Charcot(1825-1893 年)同年开始将该疾病作为一种临床实体进行教学。Adolf von Strümpell(1853-1925 年)在 1880 年认识到其遗传性,而 Maurice Lorrain(1867-1956 年)则因其在 1898 年的论文中加入了 Strümpell 的名字并形成了这个名字而获得了死后的声誉,该论文是第一份涵盖了 29 个受影响家庭的综述。他受益于他的老师 Fulgence Raymond(1844-1910 年)在这一病理学上积累了十几年的知识。在这里,我跨越了两个世纪的历史,介绍了遗传性痉挛性截瘫的临床、解剖病理学和遗传学描述,这使得人们对致病细胞功能障碍有了更好的理解,并有可能设想出有效的治疗方法。