Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree

J Med Genet. 2002 Dec;39(12):e77. doi: 10.1136/jmg.39.12.e77.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics*
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Sex Characteristics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human