Ii. Niemann-Pick??s Disease and Other Forms of So-Called Xanthomatosis

Pick, Ludwig

doi:10.1097/00000441-193305000-00001

Cited by 42 publications

(13 citation statements)

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“…We now know this as “type A” NPD. In 1927, Ludwig Pick reviewed the reports of infants with rapidly progressive neurodegenerative disorders and delineated the disease described by Niemann as a unique clinical entity that was distinct from Gaucher disease [2,3]. Although he described this new syndrome as “lipoid cell splenomegaly”, in subsequent years it became more commonly known as NPD.…”

Section: Historical Overview and Contributions Of Dr Bradymentioning

confidence: 99%

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Types A and B Niemann-Pick disease

Schuchman

Desnick

2017

Molecular Genetics and Metabolism

223

186

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The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic abnormalities that account for NPD. The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM; “types A & B” NPD), and the second is due to defective function in cholesterol transport (“type C” NPD). Herein only types A and B NPD will be discussed. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2–3 years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings. All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred to as ASM deficiency (ASMD). Herein we will review the clinical, pathological, biochemical, and genetic findings in types A and B NPD, and emphasize the seminal contributions of Dr. Brady to this disease. We will also discuss the current status of therapy for this disorder.

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Section: Historical Overview and Contributions Of Dr Bradymentioning

confidence: 99%

“…Large, lipid-laden foam cells are present in the liver, spleen, lymph nodes, adrenal cortex, lung airways, and bone marrow in types A and B NPD [3]. The cells have a mulberry appearance because of an accumulation of lipid droplets that stain for phospholipids.…”

Section: Pathologymentioning

confidence: 99%

Types A and B Niemann-Pick disease

Schuchman

Desnick

2017

Molecular Genetics and Metabolism

223

186

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“…In the lipid storage diseases, i.e., Niemann-Pick's disease, Gaucher's disease and hyperlipaemia, the cells were found within the glomerular capillary lumina and were distributed in a focal and local fashion. Foam cells in the glomeruli in Niemann-Pick's disease have already been described by Pick (1933). These may be due to a transformation of the endothelial cells by the accumulation of the sphingolipid or leucocytes loaded with the lipid transported by the circulation.…”

Section: Discussionmentioning

confidence: 99%

Glomerular involvement in storage diseases

Rosenmann¹,

Aviram²

1973

The Journal of Pathology

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“…Niemann–Pick disease type C (NPC) is a severe neurovisceral lysosomal lipid storage disorder first described by Niemann in 1914 (Niemann, 1914), and further characterized by Pick in 1933 (Pick, 1933). NPC disease is rare with a prevalence of 1:150,000 in the general population.…”

Section: 1 Introductionmentioning

confidence: 99%

Cholesterol in Niemann–Pick Type C disease

Liao

2010

Subcellular Biochemistry

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Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes in virtually every organ; however, neurodegeneration represents the fatal cause for the disease. Genetic analysis has identified loss-of-function mutations in NPC1 and NPC2 genes as the molecular triggers for the disease. Although the precise function of these proteins has not yet been clarified, recent research suggests that they orchestrate cholesterol efflux from late endosomes/lysosomes. NPC protein deficits result in impairment in intracellular cholesterol trafficking and dysregulation of cholesterol biosynthesis. Disruption of cholesterol homeostasis is also associated with deregulation of autophagic activity and early-onset neuroinflammation, which may contribute to the pathogenesis of NPC disease. This chapter reviews recent achievements in the investigation of disruption of cholesterol homeostasis-induced neurodegeneration in NPC disease, and provides new insight for developing a potential therapeutic strategy for this disorder.

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Ii. Niemann-Pick??s Disease and Other Forms of So-Called Xanthomatosis

Cited by 42 publications

References 0 publications

Types A and B Niemann-Pick disease

Types A and B Niemann-Pick disease

Glomerular involvement in storage diseases

Cholesterol in Niemann–Pick Type C disease

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