A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria

J Inherit Metab Dis. 1997 Nov;20(6):811-6. doi: 10.1023/a:1005328019832.


A 3.5-year-old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any neurological disorders, so an extensive work-up was begun. Lysinuria, increased signal on cerebral T2-weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene. PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child, Preschool
  • DNA / analysis
  • DNA / metabolism
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Genetic Linkage
  • Humans
  • Kidney / metabolism
  • Lysine / urine*
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Myelin Proteolipid Protein / genetics*
  • Ornithine / metabolism
  • Pedigree
  • Spastic Paraplegia, Hereditary / genetics*
  • X Chromosome*


  • Myelin Proteolipid Protein
  • DNA
  • Ornithine
  • Deoxyribonucleases, Type II Site-Specific
  • GRCGYC-specific type II deoxyribonucleases
  • Lysine