ReviewCNS drugs2019
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.
Review in CNS drugs, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Synthesis of a Hydroxy-15-Azasterol.ACS omega · 2025Article
- Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.Frontiers in cellular neuroscience · 2025Review
- A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.Brain communications · 2025Article
- Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.PloS one · 2025Article
- Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.Frontiers in neurology · 2025Article
- Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal.Acta neuropsychiatrica · 2024Article
- Differently increased volumes of multiple brain areas inFrontiers in neuroanatomy · 2024Article
- Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.Molecular genetics and metabolism reports · 2023Article
- Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders.Orphanet journal of rare diseases · 2023Article
- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study.AJNR. American journal of neuroradiology · 2023Article
- The experience of living with Niemann-Pick type C: a patient and caregiver perspective.Orphanet journal of rare diseases · 2023Article
- Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.Hereditas · 2022Article
- Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).Journal of clinical medicine · 2021Article
- Differential involvement of hippocampal subfields in Niemann-Pick type C disease: a case-control study.Metabolic brain disease · 2021Article
- Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography.Journal of neurology · 2021Article
- Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment.International journal of molecular sciences · 2021Review
- Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.Dysphagia · 2021Article
- Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy".Frontiers in psychiatry · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical gaze palsy are a hallmark of the disease, and psychiatric symptoms such as psychosis and mood disorders are common. These latter symptoms often present early in the course of NPC and thus these patients are often diagnosed with a major psychotic or affective disorder before neurological and cognitive signs present and the diagnosis is revised. The commonalities and characteristics of psychotic symptoms in both NPC and schizophrenia may share neuronal pathways and mechanisms and provide potential targets for research in both disorders. The neurobiology of NPC and its relationship to the pattern of neuropsychiatric and cognitive symptoms is described in this review. A number of neurobiological models are proposed as mechanisms by which NPC causes psychiatric and cognitive symptoms, informed from models proposed in schizophrenia and other metabolic disorders. There are a number of symptomatic and illness-modifying treatments for NPC currently available. The current evidence is discussed; focussing on two medications which have shown promise, miglustat and hydroxypropyl-β-cyclodextrin.
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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.