ArticleOrphanet journal of rare diseases2017
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome.Frontiers in neuroscience · 2026Review
- Hypometabolism and atrophy patterns associated with Niemann-Pick type C.EJNMMI research · 2025Article
- A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.Brain communications · 2025Article
- Characterization of central manifestations in patients with Niemann-Pick disease type C.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.Orphanet journal of rare diseases · 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
- Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.Journal of neurology · 2021Review
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.Cerebellum (London, England) · 2020Review
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.Journal of inherited metabolic disease · 2018Article
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat.JIMD reports · 2018Article
- Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?Frontiers in neurology · 2018Article
- Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.F1000Research · 2018Review
- Cognitive impairment profile in adult patients with Niemann pick type C disease.Orphanet journal of rare diseases · 2017Article
- Patient with Niemann-Pick disease type C: over 20 years' follow-up.BMJ case reports · 2017Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex. Eleven NPC patients were then studied using the same neuroimaging modalities over a mean of 5 years. The NPC composite score was used to evaluate disease severity.
resultsNPC patients showed atrophy in basal ganglia - pallidum (p = 0.029), caudate nucleus (p = 0.022), putamen (p = 0.002) and thalamus (p < 0.001) - cerebral peduncles (p = 0.003) and corpus callosum (p = 0.006), compared to controls. NPC patients also displayed decreased fractional anisotropy (FA) in several regions of interest - corona radiata (p = 0.015), internal capsule (p = 0.007), corpus callosum (p = 0.032) and cingulate gyrus (p = 0.002) - as well as a broad increase in radial diffusivity (p < 0.001), compared to controls. Over time, 3 patients worsened clinically, including 2 patients who interrupted treatment, while 8 patients remained stable. With miglustat, no significant volumetric change was observed but FA improved after 2 years in the corpus callosum and the corona radiata of NPC patients (n = 4; p = 0.029) - although that was no longer observed at further time points.
conclusionThis is the first study conducted on a series of adult NPC patients using two neuroimaging modalities and followed under treatment. It confirmed that NPC patients displayed cerebral atrophy in several regions of interest compared to controls. Furthermore, miglustat showed an early effect on diffusion metrics in treated patients. DTI can detect brain microstructure alterations caused by neurometabolic dysfunction. Its potential as a biomarker in NPC shall be further evaluated in upcoming therapeutic trials.
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