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

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The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease. / Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean Christophe; de Koning, Tom J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A.

In: Current Medical Research and Opinion, Vol. 33, No. 5, 04.05.2017, p. 877-890.

Research output: Contribution to journalArticle

Harvard

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 2017, 'The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease', Current Medical Research and Opinion, vol. 33, no. 5, pp. 877-890. https://doi.org/10.1080/03007995.2017.1294054

APA

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., ... 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

CBE

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. 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

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Author

Hendriksz, Christian J. ; Anheim, Mathieu ; Bauer, Peter ; Bonnot, Olivier ; Chakrapani, Anupam ; Corvol, Jean Christophe ; de Koning, Tom J. ; Degtyareva, Anna ; Dionisi-Vici, Carlo ; Doss, Sarah ; Duning, Thomas ; Giunti, Paola ; Iodice, Rosa ; Johnston, Tracy ; Kelly, Dierdre ; Klünemann, Hans Hermann ; Lorenzl, Stefan ; Padovani, Alessandro ; Pocovi, Miguel ; Synofzik, Matthis ; Terblanche, Alta ; Then Bergh, Florian ; Topçu, Meral ; Tranchant, Christine ; Walterfang, Mark ; Velten, Christian ; Kolb, Stefan A. / The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease. In: Current Medical Research and Opinion. 2017 ; Vol. 33, No. 5. pp. 877-890.

RIS

TY - JOUR

T1 - The hidden Niemann-Pick type C patient

T2 - clinical niches for a rare inherited metabolic disease

AU - Hendriksz, Christian J.

AU - Anheim, Mathieu

AU - Bauer, Peter

AU - Bonnot, Olivier

AU - Chakrapani, Anupam

AU - Corvol, Jean Christophe

AU - de Koning, Tom J.

AU - Degtyareva, Anna

AU - Dionisi-Vici, Carlo

AU - Doss, Sarah

AU - Duning, Thomas

AU - Giunti, Paola

AU - Iodice, Rosa

AU - Johnston, Tracy

AU - Kelly, Dierdre

AU - Klünemann, Hans Hermann

AU - Lorenzl, Stefan

AU - Padovani, Alessandro

AU - Pocovi, Miguel

AU - Synofzik, Matthis

AU - Terblanche, Alta

AU - Then Bergh, Florian

AU - Topçu, Meral

AU - Tranchant, Christine

AU - Walterfang, Mark

AU - Velten, Christian

AU - Kolb, Stefan A.

PY - 2017/5/4

Y1 - 2017/5/4

N2 - 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.

AB - 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.

KW - Clinical niche

KW - Diagnosis

KW - Differential diagnosis

KW - Epidemiology

KW - Inborn errors of metabolism (IEM)

KW - Niemann-Pick disease type C (NP-C)

KW - Screening

UR - http://www.scopus.com/inward/record.url?scp=85014517812&partnerID=8YFLogxK

U2 - 10.1080/03007995.2017.1294054

DO - 10.1080/03007995.2017.1294054

M3 - Article

C2 - 28276873

AN - SCOPUS:85014517812

VL - 33

SP - 877

EP - 890

JO - Current Medical Research and Opinion

JF - Current Medical Research and Opinion

SN - 1473-4877

IS - 5

ER -