Patient Information

Overview of Niemann-Pick Disease


Historical Landmarks in
Types A and B Niemann-Pick Disease Research
Year Landmark
  1914 The first case of Type A NPD is described by Niemann.
  1915 The accumulating material in NPD is described as a lipid.
  1927 Pick proposes that Type A NPD is distinct from Gaucher disease.
  1934 The accumulating lipid in NPD is identified as sphingomyelin.
  1946 NPD in adults (Type B) is described.
  1958 First comprehensive review of NPD is published.
  1961 Categorization of NPD into subtypes (e.g., Type A, B and C) is proposed. 
  1966 The enzyme deficiency in Type A NPD is identified as ASM.
  1967 The enzyme deficiency in Type B NPD is identified as ASM.
  1980 Types A and B NPD are shown to be distinct from Type C NPD.
  1987 Highly purified preparations of human ASM are first obtained.
  1989 The first DNA sequence encoding human ASM is obtained.
  1991 Identification of the first DNA mutations causing Types A and B NPD.
  1991 Chromosomal location of the human ASM gene is determined.
  1992 The human ASM gene is obtained.
  1992 The enzyme defect in Type A and B NPD cells is corrected in the laboratory.
  1995 The mouse ASM gene is obtained.
  1995 Mouse models of Types A and B NPD are constructed.
  1997 NPD mice are treated by bone marrow transplantation.
  1998 Human ASM is produced in large quantities to evaluate enzyme therapy for NPD.
  1999 Collaboration is established between Mount Sinai and Genzyme to develop treatment for Types A and B NPD.
  2000 Feasibility of enzyme replacement for Type B NPD is documented in the NPD mouse model.