ArticleJournal of inherited metabolic disease2007
The natural history of Niemann-Pick disease type C in the UK.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 65 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.Orphanet journal of rare diseases · 2012Pooled it
- Efficacy and safety of efavirenz in Niemann-Pick disease type C.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Trial
- Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.Lancet (London, England) · 2017Trial
- Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.Orphanet journal of rare diseases · 2012Trial
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.Journal of inherited metabolic disease · 2026Review
- Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.Journal of child neurology · 2026Article
- Clinical and molecular spectrum of Niemann-Pick disease type C patients in India.Frontiers in pediatrics · 2026Article
- Peripheral immune system modulates Purkinje cell degeneration in Niemann-Pick disease type C1.Life science alliance · 2023Article
- Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.Frontiers in integrative neuroscience · 2023Article
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
- A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.Children (Basel, Switzerland) · 2021Article
- A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.Molecular genetics and metabolism reports · 2021Article
- Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.Dysphagia · 2021Article
- [Neonatal-onset Niemann-Pick type C disease with COVID-19 infection].Anales de pediatria · 2021Article
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.International journal of molecular sciences · 2020Review
- Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.Journal of clinical medicine · 2020Review
- Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.Molecular genetics and metabolism · 2019Article
- Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1.International journal of molecular sciences · 2018Article
- Consensus clinical management guidelines for Niemann-Pick disease type C.Orphanet journal of rare diseases · 2018Article
- Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.Pediatric neurology · 2018Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarified. The wide spectrum of clinical presentations of NPC includes hepatic and pulmonary disease as well as a range of neuropsychiatric disorders. Late-onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied in adult neurology clinics. The clinical presentation and follow-up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years. This review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder reported elsewhere. Although a non-neuronopathic variant has been described, most patients in this series who survived childhood inevitably suffered neurological and in some cases neuropsychiatric deterioration. While symptomatic treatment, such as anticholinergic and antiepileptic drugs, can alleviate some aspects of the disease, there is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.