SynthesisOrphanet journal of rare diseases2012
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.
Synthesis in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 71 citations in OpenAlex.
- Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.Orphanet journal of rare diseases · 2015Trial
- Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.Orphanet journal of rare diseases · 2026Article
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Niemann-Pick Type C Disease: From Variant of Uncertain Significance to Pathogenic Variant.Movement disorders clinical practice · 2025Article
- Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.Human gene therapy · 2025Article
- Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine open · 2025Article
- Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.Healthcare (Basel, Switzerland) · 2024Review
- Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.Orphanet journal of rare diseases · 2024Article
- Review
- Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases.IBRO neuroscience reports · 2023Article
- Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.International journal of clinical pharmacy · 2022Article
- Phenotypic expression of swallowing function in Niemann-Pick disease type C1.Orphanet journal of rare diseases · 2022Observational
- Potential Composite Digenic Contribution ofGenes · 2022Article
- Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.Dysphagia · 2021Article
- Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.International journal of molecular sciences · 2021Article
- Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.Frontiers in pharmacology · 2021Article
- Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.Journal of inherited metabolic disease · 2020Observational
- Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.Journal of the neurological sciences · 2020Article
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.International journal of molecular sciences · 2020Review
- Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.Movement disorders clinical practice · 2020Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impaired intracellular lipid metabolism in a number of tissues, including the brain. Typical neurological manifestations include vertical supranuclear gaze palsy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly problematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or fluid aspiration is a major cause of mortality in NP-C and other neurodegenerative disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations in NP-C, including dysphagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of death, and on the occurrence of dysphagia in NP-C and other neurodegenerative diseases. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan.
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