Niemann–Pick type C (NPC)

 

Here's what you need to know for the boards and the wards....

 

  • Rare autosomal recessive neurodegenerative disease

  • Lysosomal storage disease

  • Gene mutation in NPC1(95%) or NPC2 (5%)

  • Codes for endosomal-lysosomal transporter for Cholesterol and glycolipids which accumulates in the lysosomes.

 

NPC is a progressive neurological disease usually beginning between age 4-10 with most dying before the age of 20. In general, the later the onset of symptoms the slower the rate of progression of disease.

 

Clinical Presentation is an insidious onset of:

  • Delays in reaching normal developmental milestones

  • Ataxia

  • Vertical supranuclear gaze palsy (VSGP)

  • Dementia “Childhood Alzheimer's”

  • Hepatosplenomegaly Organomegaly- Enlarged liver and spleen => jaundice

 

Diagnosis: Biochemical testing (Filipin staining) demonstrating abnormal intracellular cholesterol in cultured fibroblasts from a skin biopsy. Confirmed by molecular genetic testing of NPC1 and NPC2

 

Future treatment: Gene Therapy

 

Comments  

#6 Dr khan 2018-04-06 19:06
Amazing
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#5 Mary T 2018-04-05 21:57
Excellent video!
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#4 Chantal B 2018-04-05 21:19
So nice!
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#3 Vaibhav 2018-03-07 05:37
Prenatal diagnostic tests are used to detect changes in the genes or chromosomes of a fetus. This type of test is offered to couples at increased risk of having a baby with a genetic or chromosomal disorder. A tissue sample for testing can be obtained by amniocentesis or chorionic villus sampling.
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#2 Bill M 2017-12-22 01:54
Amazing smart doctor
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#1 Ejimone P 2017-12-22 01:43
Very handy!
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Category: Genetics Mnemonics

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