Is the transportation highway the right road for hereditary spastic paraplegia?

Am J Hum Genet. 2002 Nov;71(5):1009-16. doi: 10.1086/344206. Epub 2002 Sep 24.

Abstract

The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities. The condition arises because of degeneration of the longest motor and sensory axons on the spinal cord, which appear to be most sensitive to the underlying mutations. The marked genetic heterogeneity in HSP, with 20 loci chromosomally mapped and eight genes now identified, suggests that a number of defective cellular processes may be shown to result in the disease. Although previous studies have suggested a mitochondrial basis for at least one form of the disease, a mechanism common to a number of the other genes mutated in HSP has remained elusive until now. The identification of the most recent genes for the condition suggests that aberrant cellular-trafficking dynamics may be a common process responsible for the specific pattern of neurodegeneration seen in HSP.

Publication types

  • Comment
  • Editorial
  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Spastic Paraplegia, Hereditary / genetics*

Associated data

  • OMIM/118210
  • OMIM/182600
  • OMIM/182601
  • OMIM/200150
  • OMIM/205100
  • OMIM/257220
  • OMIM/270550
  • OMIM/270685
  • OMIM/270800
  • OMIM/275900
  • OMIM/300266
  • OMIM/312900
  • OMIM/312920
  • OMIM/600146
  • OMIM/600363
  • OMIM/601162
  • OMIM/603563
  • OMIM/604187
  • OMIM/604360
  • OMIM/604805
  • OMIM/605229
  • OMIM/605280
  • OMIM/606859
  • OMIM/607152