Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis

Andrew M.S. Wong, Ahad A. Rahim, Simon N. Waddington, Jonathan D. Cooper

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


The NCLs (neuronal ceroid lipofuscinoses) are the most common inherited paediatric neurodegenerative disorder. Although genetically distinct, NCLs can be broadly divided into two categories: one in which the mutation results in a defect in a transmembrane protein, and the other where the defect lies in a soluble lysosomal enzyme. A number of therapeutic approaches are applicable to the soluble lysosomal forms of NCL based on the phenomenon of cross-correction, whereby the ubiquitously expressed mannose 6-phosphate/IGF (insulin-like growth factor) II receptor provides an avenue for endocytosis, trafficking and lysosomal processing of extracellularly delivered enzyme. The present review discusses therapeutic utilization of cross-correction by enzyme-replacement therapy, gene therapy and stem cell therapy for the NCLs, along with an overview of the recent progress in translating these treatments into the clinic.

Original languageEnglish
Pages (from-to)1484-1488
Number of pages5
JournalBiochemical Society transactions
Issue number6
StatePublished - Dec 2010


  • Batten disease
  • Chaperone therapy
  • Enzyme-replacement therapy
  • Gene therapy
  • Neuronal ceroid lipofuscinosis
  • Stem cell therapy


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