Niemann-Pick disease type C1

Common Name(s)

Niemann-Pick disease type C1, Niemann-Pick Disease, Type C

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene ({601015}), referred to as type C2 ({607625}). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by {72:Vance, 2006)}. Historically, {18:Crocker (1961)} delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

http://www.parseghian.org

Last Updated: 10 Jan 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Niemann-Pick disease type C1" returned 13 free, full-text research articles on human participants. First 3 results:

Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.
 

Author(s): Marina Hovakimyan, Anja Meyer, Jan Lukas, Jiankai Luo, Volker Gudziol, Thomas Hummel, Arndt Rolfs, Andreas Wree, Martin Witt

Journal:

 

Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disease characterized by progressive neurodegeneration. As only a few studies have been conducted on the impact of NPC on sensory systems, we used a mutant mouse model (NPC1(-/-)) to examine the effects ...

Last Updated: 6 Jan 2014

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Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.
 

Author(s): Sovan Sarkar, Bernadette Carroll, Yosef Buganim, Dorothea Maetzel, Alex H M Ng, John P Cassady, Malkiel A Cohen, Souvik Chakraborty, Haoyi Wang, Eric Spooner, Hidde Ploegh, Joerg Gsponer, Viktor I Korolchuk, Rudolf Jaenisch

Journal: Cell Rep. 2013 Dec;5(5):1302-15.

 

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type ...

Last Updated: 16 Dec 2013

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Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
 

Author(s): Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, Anthony J Morgan, David A Smith, Nicole M Yanjanin, Louise Simmons, Ralf Hartung, Heiko Runz, Eugen Mengel, Michael Beck, Jackie Imrie, Elizabeth Jacklin, James E Wraith, Christian Hendriksz, Robin Lachmann, Celine Cognet, Rohini Sidhu, Hideji Fujiwara, Daniel S Ory, Antony Galione, Forbes D Porter, Eric Vivier, Frances M Platt

Journal: Blood. 2014 Jan;123(1):51-60.

 

Niemann-Pick type C (NPC) is a neurodegenerative lysosomal storage disorder caused by defects in the lysosomal proteins NPC1 or NPC2. NPC cells are characterized by reduced lysosomal calcium levels and impaired sphingosine transport from lysosomes. Natural killer (NK) cells kill virally ...

Last Updated: 3 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Niemann-Pick disease type C1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 15 Aug 2014

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Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 5 Feb 2014

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Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 15 Aug 2014

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