Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation

J Neurol. 2013 Jun;260(6):1678-80. doi: 10.1007/s00415-013-6941-z. Epub 2013 May 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Base Sequence
  • Brain / pathology
  • Cerebellar Ataxia / genetics*
  • Child
  • Child, Preschool
  • Humans
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Receptors, LDL / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Receptors, LDL
  • VLDL receptor

Supplementary concepts

  • Dysequilibrium syndrome