Niemann-Pick disease type D

Common Name(s)

Niemann-Pick disease type D

Niemann-Pick disease type D is one of four types of Niemann-Pick disease. Niemann-Pick disease is passed down through families and is a condition in which fatty substances (lipids) collect in the cells of the liver, spleen, and brain. Type D has only been seen in French Canadian people of Yarmouth County, Nova Scotia. This condition is characterized by a defect in the way cholesterol moves between brain cells. Symptoms may include: enlarged liver or spleen, difficulty moving limbs, learning difficulties, slowed speech, seizures, clumsiness, trouble moving the eyes up and down, and jaundice (yellow skin and eyes). Diagnosis of type D depends on a skin biopsy, a test that measures how your cells grow, move, and store cholesterol. Although there is no specific treatment, a low cholesterol diet is recommended for people with this condition, and medications including miglustats can be used to treat symptoms such as seizures.

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Condition Specific Organizations

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

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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 D" returned 4 free, full-text research articles on human participants. First 3 results:

Role of cathepsin D in U18666A-induced neuronal cell death: potential implication in Niemann-Pick type C disease pathogenesis.
 

Author(s): Asha Amritraj, Yanlin Wang, Timothy J Revett, David Vergote, David Westaway, Satyabrata Kar

Journal: J. Biol. Chem.. 2013 Feb;288(5):3136-52.

 

Cathepsin D is an aspartyl protease that plays a crucial role in normal cellular functions and in a variety of neurodegenerative disorders, including Niemann-Pick type C (NPC) disease, which is characterized by intracellular accumulation of cholesterol and glycosphingolipids in many ...

Last Updated: 4 Feb 2013

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
 

Author(s): W L Greer, D C Riddell, T L Gillan, G S Girouard, S M Sparrow, D M Byers, M J Dobson, P E Neumann

Journal: Am. J. Hum. Genet.. 1998 Jul;63(1):52-4.

 

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic ...

Last Updated: 13 Aug 1998

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Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.
 

Author(s): W L Greer, D C Riddell, D M Byers, J P Welch, G S Girouard, S M Sparrow, T L Gillan, P E Neumann

Journal: Am. J. Hum. Genet.. 1997 Jul;61(1):139-42.

 

Niemann-Pick type II disease is a severe disorder characterized by accumulation of tissue cholesterol and sphingomyelin and by progressive degeneration of the nervous system. This disease has two clinically similar subtypes, type C (NPC) and type D (NPD). NPC is clinically variable ...

Last Updated: 26 Aug 1997

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Reviews from the PubMed Database

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The terms "Niemann-Pick disease type D" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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