Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain.
Service of Neurology, "Hospital Universitario Miguel Servet", Saragossa, Spain.
Cerebellum. 2022 Aug;21(4):531-544. doi: 10.1007/s12311-021-01328-6. Epub 2021 Nov 3.
The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and hereditary spastic paraplegias, over the last century and a half. Original descriptions of the main pathological subtypes, including Friedreich's ataxia, hereditary spastic paraplegia, olivopontocerebellar atrophy and cortical cerebellar atrophy, are revised. Special attention is given to the first accurate description of striatonigral degeneration by Hans Joachim Scherer, his personal and scientific trajectory being clarified. Pathological classifications of ataxia are critically analysed. The current clinical-genetic classification of ataxia is updated by taking into account recent molecular discoveries. We conclude that there has been an enormous progress in the knowledge of the nosology of hereditary ataxias and paraplegias, currently encompassing around 200 genetic subtypes.
本文旨在对过去一个半世纪以来退行性小脑疾病和遗传性痉挛性截瘫的知识演变进行历史回顾。对主要病理亚型的原始描述进行了修订，包括弗里德里希共济失调、遗传性痉挛性截瘫、橄榄脑桥小脑萎缩和皮质小脑萎缩。特别关注了 Hans Joachim Scherer 对纹状体黑质变性的首次准确描述，阐明了他的个人和科学轨迹。对共济失调的病理分类进行了批判性分析。通过考虑最近的分子发现，对当前的共济失调临床遗传分类进行了更新。我们的结论是，遗传性共济失调和截瘫的分类学知识取得了巨大进展，目前包括大约 200 种遗传亚型。
