The genetics of hereditary spastic paraplegia and implications for drug therapy

Expert Opin Pharmacother. 2007 Jul;8(10):1433-9. doi: 10.1517/14656566.8.10.1433.

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. A total of 30 chromosomal loci have been identified for autosomal dominant, recessive and X-linked HSP. The underlying genes for 15 of these loci have been described. The molecular dissection of the cellular functions of the related gene products has already greatly advanced our understanding of the most critical pathways involved in HSP. It is hoped that in the foreseeable future this knowledge will begin to translate into novel pharmacological approaches for this devastating disease.

Publication types

  • Review

MeSH terms

  • Drug Therapy / trends
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genomics
  • Humans
  • Mutation
  • Neuromuscular Agents / therapeutic use*
  • Pharmacogenetics / methods*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / drug therapy*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Neuromuscular Agents