ArticleJournal of inherited metabolic disease2002
Niemann-Pick disease type C in adults.
Article in Journal of inherited metabolic disease, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02841358 (Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population), which is not on this map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- 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
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.Cerebellum (London, England) · 2023Review
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
- Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.Scientific reports · 2022Article
- Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.American journal of medical genetics. Part A · 2021Article
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.Cerebellum (London, England) · 2020Review
- Nosology and Phenomenology of Psychosis in Movement Disorders.Movement disorders clinical practice · 2020Review
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Journal of neurology · 2016Observational
- Cataplexy and sleep disorders in Niemann-Pick type C disease.Current neurology and neuroscience reports · 2015Review
- Psychiatric signs and symptoms in treatable inborn errors of metabolism.Journal of neurology · 2014Review
- Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease.Child and adolescent psychiatry and mental health · 2014Article
- Psychiatric manifestations of treatable hereditary metabolic disorders in adults.Annals of general psychiatry · 2014Review
- Bone-marrow-derived mesenchymal stem cells promote proliferation and neuronal differentiation of Niemann-Pick type C mouse neural stem cells by upregulation and secretion of CCL2.Human gene therapy · 2013Article
- Disease and patient characteristics in NP-C patients: findings from an international disease registry.Orphanet journal of rare diseases · 2013Article
- Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.Journal of inherited metabolic disease · 2013Article
- The neuropsychiatry of hyperkinetic movement disorders: insights from neuroimaging into the neural circuit bases of dysfunction.Tremor and other hyperkinetic movements (New York, N.Y.) · 2013Article
- Clinical aspects of neuropathic lysosomal storage disorders.Journal of inherited metabolic disease · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. Adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease. The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be very helpful in the differential diagnosis. The diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and DNA mutation analysis.
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What OpenQuestion holds
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.