Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives

Gianmarco Contino, Giuseppe Novelli

Research output: Contribution to journalArticle

Abstract

Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degeneration of the corticospinal tract axons, leading to bilateral, symmetrical, slowly-progressive spastic paraparesis, predominantly of the lower extremities. So far, ∼ 30 different chromosomal HSP loci have been identified by genetic linkage analysis. Defects in intracellular trafficking and transport in myelination and abnormalities of mitochondrial proteins have been involved in HSP pathogenesis. At present, treatment of the HSPs is primarily directed symptomatically toward reducing muscle spasticity. Yet, recent progresses in the identification of HSP mutations are providing formidable tools to pharmacogenetic approaches of drug discovery, validation and prediction of individual response.

Original languageEnglish
Pages (from-to)1849-1856
Number of pages8
JournalExpert Opinion on Pharmacotherapy
Volume7
Issue number14
DOIs
Publication statusPublished - Oct 2006

Keywords

  • Axonal transport
  • Baclofen
  • Genetic heterogeneity
  • Hereditary spastic paraplegia
  • Linkage analysis
  • Pharmacogenetics
  • Vinca alkaloids

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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