Hendriksz, CJ;
Anheim, M;
Bauer, P;
Bonnot, O;
Chakrapani, A;
Corvol, J-C;
de Koning, TJ;
... Kolb, SA; + view all
(2017)
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Current Medical Research and Opinion
, 33
(5)
pp. 877-890.
10.1080/03007995.2017.1294054.
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Giunti_Hendriksz et al_NP-C niches manuscript_re-submission draft_31 Jan 2016 (refs UF).pdf - Accepted Version Download (422kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/03007995.2017.1294054 |
| Publisher version: | http://dx.doi.org/10.1080/03007995.2017.1294054 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Niemann-Pick disease type C (NP-C), Diagnosis, Screening, Clinical niche, Differential diagnosis, Epidemiology, Inborn errors of metabolism (IEM) |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1545676 |
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