Research

  • NCLs constitute a group of the most common hereditary neurodegenerative Lysosomal Storage Diseases (LSDs)
  • Commonly known as Batten disease;
  • Mutations in 13 different genes cause various types of NCLs;
  • The infantile NCL (INCL) is one of the most devastating among all NCLs;
  • INCL is caused by inactivating mutations in the CLN1 gene, which encodes palmitoyl-protein thioesterase-1 (PPT1);
  • Currently, there is no effective treatment for any of the NCLs.
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