Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

Frits Wijburg, Frederic Sedel, Mercedes Pineda, Chris Hendriksz, Michael Collingwood Fahey, Mark Walterfang, Marc C Patterson, James Edmond Wraith, Stefan Kolb

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Abstract

Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C.
Original languageEnglish
Pages (from-to)1560 - 1567
Number of pages8
JournalNeurology
Volume78
Issue number20
DOIs
Publication statusPublished - 2012

Cite this

Wijburg, F., Sedel, F., Pineda, M., Hendriksz, C., Fahey, M. C., Walterfang, M., ... Kolb, S. (2012). Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology, 78(20), 1560 - 1567. https://doi.org/10.1212/WNL.0b013e3182563b82
Wijburg, Frits ; Sedel, Frederic ; Pineda, Mercedes ; Hendriksz, Chris ; Fahey, Michael Collingwood ; Walterfang, Mark ; Patterson, Marc C ; Wraith, James Edmond ; Kolb, Stefan. / Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. In: Neurology. 2012 ; Vol. 78, No. 20. pp. 1560 - 1567.
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Wijburg, F, Sedel, F, Pineda, M, Hendriksz, C, Fahey, MC, Walterfang, M, Patterson, MC, Wraith, JE & Kolb, S 2012, 'Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C', Neurology, vol. 78, no. 20, pp. 1560 - 1567. https://doi.org/10.1212/WNL.0b013e3182563b82

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. / Wijburg, Frits; Sedel, Frederic; Pineda, Mercedes; Hendriksz, Chris; Fahey, Michael Collingwood; Walterfang, Mark; Patterson, Marc C; Wraith, James Edmond; Kolb, Stefan.

In: Neurology, Vol. 78, No. 20, 2012, p. 1560 - 1567.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

AU - Wijburg, Frits

AU - Sedel, Frederic

AU - Pineda, Mercedes

AU - Hendriksz, Chris

AU - Fahey, Michael Collingwood

AU - Walterfang, Mark

AU - Patterson, Marc C

AU - Wraith, James Edmond

AU - Kolb, Stefan

PY - 2012

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AB - Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C.

UR - http://www.ncbi.nlm.nih.gov/pubmed/22517094

U2 - 10.1212/WNL.0b013e3182563b82

DO - 10.1212/WNL.0b013e3182563b82

M3 - Article

VL - 78

SP - 1560

EP - 1567

JO - Neurology

JF - Neurology

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