Therapy of Niemann - Pick disease, type C

Marc C. Patterson, Frances Platt

Research output: Contribution to journalReview article

60 Scopus citations


Niemann - Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.

Original languageEnglish (US)
Pages (from-to)77-82
Number of pages6
JournalBiochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Issue number1-3
StatePublished - Oct 11 2004



  • Gene
  • Niemann - Pick disease
  • Therapy

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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