Niemann Pick C (NPC): investigations
Evidence-based neurology checklist on niemann pick c (npc): investigations: Plasma oxysterols These are cholesterol oxidation products: they are sensitive and specific in NPC There are two types: Cholestane-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) False positive results may result…
Plasma oxysterols
- These are cholesterol oxidation products: they are sensitive and specific in NPC
- There are two types: Cholestane-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC)
- False positive results may result from prolonged sample storage at room temperature
Blood biomarkers
Magnetic resonance imaging (MRI) brain: features
Bone marrow analysis: features
Skin biopsy: techniques
Other investigations
References
- Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract 2017; 7:499-511.
- Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009; 98:152-165.
- Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007; 130:120-133.
- Goez HR, Jacob FD, Fealey RD, et al. An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. J Child Neurol 2011; 26:518-521.
- Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 2012; 106:330-344.
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