Niemann-Pick Disease, Type C (C1 & C2)
Pathogenesis (Sphingolipid Disorder)
- Lipid & Cholesterol movement proteins are deficient, which leads to a failure of lipid and cholesterol movement (esp. in the formation of Cell Membranes), which leads to toxic accumulation and lipids and poor cellular functioning, which results in widespread organ damage.
Clinical
- Neurological manifestations: Extrapyramidal Symptoms (ataxia, dystonia, vertical gaze palsy)
- Systemic manifestations: Hepatosplenomegaly and Interstitial Lung Disease
Genetics
- NPC gene mutation, Lipid/Cholesterol Movement Protein
- Autosomal recessive.
- Finnish Population
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov