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. |
