Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

J Neurol. 2016 May;263(5):1029-1032. doi: 10.1007/s00415-016-8111-6. Epub 2016 Apr 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / diagnostic imaging
  • Cathepsin D / deficiency*
  • Cathepsin D / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / diagnostic imaging
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Phenotype

Substances

  • CTSD protein, human
  • Cathepsin D

Supplementary concepts

  • Ceroid Lipofuscinosis, Neuronal, 10