Niemann-Pick Disease (NPD) includes a group of inherited diseases: Types A, B, and C. The name Niemann-Pick derives from two German pediatricians: Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927.
The following represents historical landmarks in research of Niemann-Pick disease, Type A and Type B.
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 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 (Types A, B, and C) is proposed.
1966
The enzyme deficiency in Type A is identified as acid sphingomyelinase (ASM).
1967
The enzyme deficiency in Type B is identified as ASM.
1980
Types A and B are shown to be distinct from Type C.
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.
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 Type B cells is corrected in the laboratory.
1995
The mouse ASM gene is obtained.
1995
Mouse models of Types A and B are constructed.
1997
NPD mice are treated by bone marrow transplantation.
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1998
Human ASM is produced in large quantities to evaluate enzyme therapy for NPD.
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1999
Collaboration is established between Mount Sinai and Genzyme to develop treatment for Types A and B.
2000
Feasibility of enzyme replacement for Type B is documented in the NPD mouse model.