ReviewMetabolic brain disease2019
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
Review in Metabolic brain disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 55 citations in OpenAlex.
- Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.Biomarker research · 2026Article
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.Research square · 2026Article
- Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.medRxiv : the preprint server for health sciences · 2026Article
- Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.Lipids in health and disease · 2025Review
- Oxysterol-Induced Inflammation in Human Diseases: Strategies for Treatment with Natural Compounds and Synthetic Molecules.Molecules (Basel, Switzerland) · 2025Review
- Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.International journal of molecular sciences · 2025Article
- Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.Arquivos de neuro-psiquiatria · 2025Article
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.Neurology international · 2024Article
- Role of Brain Liver X Receptor in Parkinson's Disease: Hidden Treasure and Emerging Opportunities.Molecular neurobiology · 2024Review
- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.NPJ genomic medicine · 2023Review
- Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.Naunyn-Schmiedeberg's archives of pharmacology · 2023Article
- New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.International journal of molecular sciences · 2023Article
- Bioconjugation Strategies for Revealing the Roles of Lipids in Living Cells.Accounts of chemical research · 2022Article
- Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.International journal of neonatal screening · 2022Article
- Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.EJIFCC · 2022Article
- Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.Hereditas · 2022Article
- Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry.Mass spectrometry (Tokyo, Japan) · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. NPC is inherited in an autosomal recessive trait. Due to the wide range in age of onset, often unspecific clinical picture and varying dynamics of disease progression, the diagnosis is very difficult and long-lasting. The most characteristic visceral symptoms are hepato- or hepatosplenomegaly, which may appear independently of neurological or psychiatric symptoms at various stages of the disease. Available biochemical biomarkers should be tested as early as possible in patients presenting with hepato- or hepatosplenomegaly, long-lasting cholestatic jaundice in neonates or infantile patients, as well as in individuals at any age with: vertical supranuclear gaze palsy (VSGP), ataxia, dystonia, frontotemporal dementia and untreatable schizophrenia or psychosis. Research on biomarkers which can detect NPC patients (Cholestan-3β, 5α, 6β-triol, 7-ketocholesterol, lysosphingomyelin isoforms and bile acid metabolites) is still ongoing, although they are not specific for the NPC disease only. This mini review describes currently used diagnostic methods.
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