Overview

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	Type B

	Type C

Treatment Options

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	Type B

	Type C

Information for Health Care Providers and Educators

	Type A

	Type B

	Type C

The Latest Research

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The Latest Research

Chemical chaperone could open door to treatment of neurological disorder. (Posted February 6th, 2008.)

Read the press release from Washington University of St. Louis

Year-1 results show that miglustat improves or stabilizes several clinically relevant markers of Niemann-Pick Type C.

Read the press release from Actelion

Genzyme announces novel gene therapy approach for NPD Types A and B.

Read the Genzyme Announcement

Abstract

The National Niemann-Pick C1 Disease Database: Report of clinical features and health problems.

Graver WS, Francis GA, et al. 2007. Am J Med Genet A. 143A(11):1204-1211.

Miglustat (Zavesca) animal toxicology study data released

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Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice.

Sidman RL, Li J, Stewart GR, Clarke J, Yang W, Snyder EY, Shihabuddin LS. Brain Res. 2007 Apr 6;1140:195-204. Epub 2007 Jan 9. PMID: 17289003 [PubMed - in process]

Stem cell treatment of mouse model of NPD type A shows improvement in some areas.

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. Brain. 2007 Mar 14; [Epub ahead of print]

Findings indicate that mutation analysis is of limited value in predicting brain damage in intermediate ASM deficient NPD (Type A/B variant), and the option of enzyme replacement therapy should be considered.

Kinematic analysis of motor dysfunction in Niemann-Pick type C.

Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Clin Neurophysiol. 2007 Feb 26; [Epub ahead of print]

The first descriptive analysis of upper limb motor physiology in Niemann-Pick Type C disease. These quantitative methods may help to evaluate efficacy, and side effects, of new treatments as they are developed.

The natural history of Niemann-Pick disease type C in the UK.

Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, Vanier MT, Fensom AH, Ward C, Jacklin E, Whitehouse C, Wraith JE. J Inherit Metab Dis. 2007 Feb;30(1):51-9. Epub 2006 Dec 11. PMID: 17160617 [PubMed - indexed for MEDLINE]

The clinical presentation and follow-up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years.

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

larner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. J Inherit Metab Dis. 2007 Feb;30(1):60-7. Epub 2006 Dec 11.
PMID: 17160616 [PubMed - indexed for MEDLINE]

Evaluation of a test battery that could be used to assess cognitive deficits in different stages of NPD Type C. Observations found that visuospatial working memory was less affected by the neurodegenerative process than verbal working memory.

Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease.

Beltroy EP, Liu B, Dietschy JM, Turley SD. J Lipid Res. 2007 Jan 14; [Epub ahead of print]
PMID: 17220530 [PubMed - as supplied by publisher]

Studies used npc1-mutant mice to investigate the association between liver dysfunction and unesterified cholesterol accumulation. Results suggest it is the late endosomal/lysosomal content of unesterified cholesterol that correlates with cell damage in NPC disease.

Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse.

Garver WS, Jelinek D, Oyarzo JN, Flynn J, Zuckerman M, Krishnan K, Chung BH, Heidenreich RA. J Cell Biochem. 2007 Jan 10; [Epub ahead of print] PMID: 17216601 [PubMed - as supplied by publisher]

Results from this study support the hypothesis that an accumulation of lipoprotein-derived cholesterol within late endosomes/lysosomes, in addition to altered intracellular cholesterol homeostasis, has a key role in the biochemical and cellular pathophysiology associated with NPC1 liver disease.

Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes

Kulinski A, Vance JE. J Biol Chem. 2007 Jan 19;282(3):1627-37. Epub 2006 Nov 15. PMID: 17107950 [PubMed - indexed for MEDLINE]

Investigation of liver disease in NPC1-deficient mice. Observations indicate that the enhanced secretion of lipoproteins from NPC1-deficient hepatocytes is due, at least in part, to increased lipid synthesis.

Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells.

Linder MD, Uronen RL, Holtta-Vuori M, van der Sluijs P, Peranen J, Ikonen E. PMID: 17050734 [PubMed - indexed for MEDLINE]
Mol Biol Cell. 2007 Jan;18(1):47-56. Epub 2006 Oct 18.

Results show that the overexpression of the recycling/exocytic Rab GTPase Rab8 rescued the late endosomal cholesterol deposition and sphingolipid mistrafficking in NPC fibroblasts. Rab8 is established as a key component of the regulatory machinery that leads to ABCA1-dependent removal of cholesterol from endocytic circuits.

Clues to neuro-degeneration in niemann-pick type C disease from global gene expression profiling.

Reddy JV, Ganley IG, Pfeffer SR. PLoS ONE. 2006 Dec 20;1:e19. PMID: 17183645 [PubMed - in process

NPC1 mutant cells display an inappropriate homeostatic response to accumulated intracellular cholesterol. In addition, a number of striking parallels were observed between NPC disease and Alzheimer's disease.