›› 2017, Vol. 37 ›› Issue (11): 1552-.doi: 10.3969/j.issn.1674-8115.2017.11.018

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Progress in genetics of autosomal dominant hereditary spastic paraplegia

ZHAN Fei-xia, CAO Li   

  1. Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2017-11-28 Published:2018-01-10
  • Supported by:
    National Natural Science Foundation of China, 81571086; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20161401; Biomedical Engineering Cross Research Foundation of Shanghai Jiao Tong University, YG2016MS64

Abstract: Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity inducing gait abnormalities or disorders. In practice, based on the modes of inheritance, it can be divided into autosomal dominant, autosomal recessive, X-linked and mitochondrial maternal inheritance. According to whether the clinical manifestations complicated or not, HSP can be divided into pure and complex form. To date, mutations in 78 distinct loci and 59 mutated gene products have been identified or reported in patients with HSP; among them 20 distinct loci and 13 mutated gene products have been found in autosomal dominant spastic paraplegia. This is a review about the genetic characteristics and research progress of autosomal dominant HSP.

Key words: spastic paraplegia, genetics, autosomal dominant inheritance, pathogenic mutation

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