Literature DB >> 31911003

A historical approach to hereditary spastic paraplegia.

O Walusinski1.   

Abstract

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.
Copyright © 2019 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Hereditary spastic paraplegia; History of neurology; Motor neuron disease; Neurodegeneration; Strümpell-Lorrain syndrome; Weakness

Mesh:

Year:  2020        PMID: 31911003     DOI: 10.1016/j.neurol.2019.11.003

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  3 in total

1.  A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.

Authors:  Tao Shen; Wen Zhang; Li Li; Rong-Xia Zuo; Zi-Jun Wang; Tai Xiao; Kun-Wen Zheng
Journal:  Ann Transl Med       Date:  2022-01

2.  Phosphorylation of Spastin Promotes the Surface Delivery and Synaptic Function of AMPA Receptors.

Authors:  Li Chen; Hanjie Wang; Shuhan Cha; Jiong Li; Jiaqi Zhang; Jiaming Wu; Guoqing Guo; Jifeng Zhang
Journal:  Front Cell Neurosci       Date:  2022-03-28       Impact factor: 5.505

3.  A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.

Authors:  Li Xu; Zijuan Peng; Chunhui Zhou; Jiqing Wang; Hunjin Luo; Qin Lu; Zhengjun Bao
Journal:  Case Rep Genet       Date:  2021-12-14
  3 in total

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