Niemann Pick C (NPC): predictive features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Niemann Pick C (NPC): predictive features. Early onset ataxia, Developmental delay, Paediatric age visceral symptoms. Fully referenced neurology checklist.
At-risk features
- Early onset ataxia
- Developmental delay
- Paediatric age visceral symptoms
- Early onset cognitive decline
- Early onset dystonia
- Frontotemporal dementia (FTD)
- Atypical/early onset schizophrenia
- Early onset chronic inflammatory central nervous system disease
- Early onset Parkinsonism
The NPC Suspicion Index: predictors of NPC
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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.
- Hendriksz CJ, Anheim M, Bauer P, et al. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Curr Med Res Opin 2017; 33:877-890.
- Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012; 78:1560-1567.
