The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

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Hendriksz C. J., Anheim M., Bauer P., Bonnot O., Chakrapani A., Corvol J., ...More

CURRENT MEDICAL RESEARCH AND OPINION, vol.33, no.5, pp.877-890, 2017 (SCI-Expanded) identifier identifier identifier


Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups (clinical niches) have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes.