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Diseases » Niemann-Pick disease » Types

Types of Niemann-Pick disease

Contents

Niemann-Pick disease: Types list

The list of types of Niemann-Pick disease mentioned in various sources includes:

Niemann-Pick type A - infant disease with poor prognosis
Niemann-Pick type B - juvenile form
Niemann-Pick type C - subtype with brain complications
Niemann-Pick type D - same as Type C but with Nova Scotia ancentral cause

Types discussion:

Genes and Disease by the National Center for Biotechnology (Excerpt)

Today, there are three separate diseases that carry the name Niemann -- Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease. Recently, the major locus responsible for Niemann -- Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Niemann-Pick Disease Information Page: NINDS (Excerpt)

The clinical designations applied to NP are somewhat erratic. Patients are currently subdivided into 4 categories. In the first, called type A, enlargement of the liver and spleen are apparent in infancy and profound brain damage is evident. These children rarely live beyond 18 months. In the second group, called type B, enlargement of the liver and spleen characteristically occur in the pre-teen years. Most of these patients also have pulmonary difficulties, but the brain is not affected. The fatty material that accumulates in types A and B is called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme called sphingomyelinase that initiates the biodegradation of sphingomyelin that arises from normal cell turnover. The term NP also includes 2 other variant forms called types C and D. Patients with these types have only moderate enlargement of their spleens and livers. They have brain involvement that can be extensive leading to inability to look up and down, difficulty in walking and swallowing, as well as progressive loss of vision and hearing. The disorder may appear early in life or its onset may be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia. (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)