The History of Niemann-Pick Type C
Niemann-Pick Disease was named after the two scientists who originally described it and distinguished it from other lipid storage disorders, Albert Niemann in 1914 and Luddwick Pick in the 1920's. At that time diagnosis was restricted to infants with infantile neurodegenerative disease and Hepatosplenomegaly (HSM), the simulateneous enlargement of both the liver (hepatomegaly) and the spleen (splenogmegaly). However, in 1958 Crocker and Farber widened the definition to include patients with slow developing or absent neurologic disease. Later Crocker classified the disease into 4 groups which presented differently:
Distinguishing feature
Primary pathophysiology
Genetic Cause
Type A
Infant disease with very poor prognosis
Acid sphingomyelinase deficiency
SMPD1 gene mutation
Type B
Juvenile form with lung involvement
Acid sphingomyelinase deficiency
SMPD1 gene mutation
Type C
Pan-
Defect in cellular cholesterol trafficking
NPC1 or NPC2 gene mutation
Type D
Same as Type C but with Nova Scotian ancestry
Defect in cellular cholesterol trafficking
NPC1 gene mutation
Type D closely resembled Type C, except for its restriction to the Nova Scotian ancestry and has therefore now been merged into one type NPC. However, NPC is distinct and separate from Niemann-Pick Diseases Type A (NPA) and Type B (NPB). NPC is caused primarily by a biochemical defect in its lipid transportation whereas NPA and NPB are caused primarily by a deficiency of acid sphingomyelinase.
