TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia

Neurology. 2015 Oct 6;85(14):1259-61. doi: 10.1212/WNL.0000000000001876. Epub 2015 Jul 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Ataxia / diagnosis
  • Ataxia / etiology
  • Ataxia / genetics*
  • Child
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / deficiency
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics*
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / metabolism
  • Female
  • Humans
  • Neuronal Ceroid-Lipofuscinoses / metabolism
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics
  • Tripeptidyl-Peptidase 1

Substances

  • Tripeptidyl-Peptidase 1
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • TPP1 protein, human