ArticleEuropean journal of nuclear medicine and molecular imaging2019
Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
Article in European journal of nuclear medicine and molecular imaging, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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
- Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings.European journal of neurology · 2025Article
- Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.Journal of inherited metabolic disease · 2025Review
- Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.Journal of inherited metabolic disease · 2025Article
- A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.Brain communications · 2025Article
- Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).Orphanet journal of rare diseases · 2024Review
- Upstream lipid and metabolic systems are potential causes of Alzheimer's disease, Parkinson's disease and dementias.The FEBS journal · 2024Review
- Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C.Brain communications · 2024Article
- Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing.Frontiers in genetics · 2024Article
- 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
- The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.Cerebellum (London, England) · 2023Review
- Regulation of cholesterol homeostasis in health and diseases: from mechanisms to targeted therapeutics.Signal transduction and targeted therapy · 2022Review
- 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
- Differential involvement of hippocampal subfields in Niemann-Pick type C disease: a case-control study.Metabolic brain disease · 2021Article
- Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.Dysphagia · 2021Article
- Haploinsufficiency of tau decreases survival of the mouse model of Niemann-Pick disease type C1 but does not alter tau phosphorylation.Journal of applied genetics · 2020Article
- Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.International journal of molecular sciences · 2020Article
- Tauopathy and Movement Disorders-Unveiling the Chameleons and Mimics.Frontiers in neurology · 2020Review
- In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C.Heliyon · 2019Article
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
purposeNiemann-Pick type C (NPC) is a cholesterol storage disease characterized by disruption in the endosomal-lysosomal transport system that leads to the accumulation of cholesterol and glycolipids in lysosomes. Developmental cognitive delay and progressive motor and cognitive impairment are characteristic of the disease. Tau accumulation has been reported in some NPC patients. We investigated the presence of tau and Aβ-amyloid deposits in a group of NPC patients and for comparison in age-matched healthy controls (HC).
methodsEight NPC patients and seven HC were included in the study. Participants underwent tau imaging with
resultsAll participants were Aβ-negative. Four NPC patients presented with high tau burden in the brain. A 21-year-old female patient and a 40-year-old male patient showed high neocortical tau burden in a pattern different from that observed in patients with Alzheimer's disease, while the same 40-year-old male patient, a 40-year-old female patient and a 50-year-old female patient showed high regional tau burden in the mesial temporal cortex. Spearman's correlation analysis showed an association between tau burden in the mesial temporal lobe and age (p = 0.022), and age at symptom onset (p = 0.009), and between frontotemporal tau and duration of symptoms (p = 0.027). There were no correlations between global and regional tau and cognitive parameters.
conclusionFour of eight NPC patients showed tau deposition in the brain. The results of our exploratory study suggest that while tau deposits do not affect cognitive performance, tau deposits are associated with measures of disease onset and progression. Further studies in a larger cohort of NPC patients are needed to confirm these initial findings.
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