Contributor: Gordon K. Klintworth
Niemann-Pick disease type D (Nova Scotian type of Niemann-Pick disease, OMIM #257250) is a specific type of Niemann-Pick disease. This condition, which has neurologic invovement, was first described in French Acadians Nova Scotia in 1977 and is characterized by elevated sphingomyelin and free cholesterol levels in the spleen. Sphingomyelinase is not deficient. This entity is caused by a mutation in the NPC1 gene and is allelic with Niemann-Pick disease type C. Affected individuals with this variant of Niemann-Pick disease are currently included in Niemann-Pick disease type II.