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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(5):877-890doi: 10.1080/03007995.2017.1294054.
Hendriksz, C. J., Anheim, M., Bauer, P., Bonnot, O., Chakrapani, A., Corvol, J. C., de Koning, T. J., Degtyareva, A., Dionisi-Vici, C., Doss, S., Duning, T., Giunti, P., Iodice, R., Johnston, T., Kelly, D., Klünemann, H. H., Lorenzl, S., Padovani, A., Pocovi, M., Synofzik, M., Terblanche, A., Then Bergh, F., Topçu, M., Tranchant, C., Walterfang, M., Velten, C., & Kolb, S. A. (2017). The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Current medical research and opinion, 33(5), 877-890. https://doi.org/10.1080/03007995.2017.1294054
Hendriksz, Christian J, et al. "The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease." Current medical research and opinion vol. 33,5 (2017): 877-890. doi: https://doi.org/10.1080/03007995.2017.1294054
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 02. PMID: 28276873.
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Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 02.

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

Current medical research and opinion

Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb

Affiliations

  1. a Salford Royal NHS Foundation Trust , Manchester , UK.
  2. b University of Pretoria , Pretoria , South Africa.
  3. c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.
  4. d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.
  5. e CENTOGENE AG , Rostock , Germany.
  6. f CHU and University of Nantes , Nantes , France.
  7. g Great Ormond St Hospital for Children , London , UK.
  8. h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.
  9. i University of Groningen , Groningen , the Netherlands.
  10. j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.
  11. k Bambino Gesù Children's Hospital , Rome , Italy.
  12. l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.
  13. m Münster University Hospital , Münster, Germany.
  14. n University College London, Institute of Neurology , London , UK.
  15. o University Federico II Naples , Naples , Italy.
  16. p Birmingham Women's Hospital , Birmingham , UK.
  17. q Birmingham Children's Hospital , Birmingham , UK.
  18. r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.
  19. s Ludwig Maximillian University , Munich , Germany.
  20. t Paracelus Medical University , Salzburg , Austria.
  21. u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.
  22. v University of Zaragoza , IISA, Zaragoza , Spain.
  23. w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.
  24. x German Center for Neurodegenerative Diseases (DZNE) , Tübingen, Germany.
  25. y University of Leipzig , Department of Neurology , Leipzig , Germany.
  26. z Hacettepe University Children's Hospital , Ankara , Turkey.
  27. aa CHU Strasburg , Strasburg , France.
  28. ab Royal Melbourne Hospital , Melbourne , Australia.
  29. ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.

PMID: 28276873 DOI: 10.1080/03007995.2017.1294054

Abstract

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.

METHODS: Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included.

FINDINGS: Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches.

CONCLUSIONS: Several clinical niches have been identified that harbor patients at increased risk of NP-C.

Keywords: Clinical niche; Diagnosis; Differential diagnosis; Epidemiology; Inborn errors of metabolism (IEM); Niemann-Pick disease type C (NP-C); Screening

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