ArticleOrphanet journal of rare diseases2017
Cognitive impairment profile in adult patients with Niemann pick type C disease.
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 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 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
- Efficacy and safety of efavirenz in Niemann-Pick disease type C.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Trial
- Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.Frontiers in neurology · 2025Article
- 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
- Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- 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
- Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.Journal of neurology · 2021Review
- Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.Movement disorders clinical practice · 2020Article
- 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
- Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.Orphanet journal of rare diseases · 2018Article
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.Orphanet journal of rare diseases · 2018Article
- Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up.
methodsWe conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients. Cognitive impairment scores over time were assessed under treatment by miglustat.
resultsThe majority of patients (90%) were impaired in one or more cognitive function. Executive functions and attention were the most impaired cognitive functions. Conversely, storage in the episodic memory was preserved in 61.5% of cases. Mean neuropsychological scores were stable during the period under miglustat (mean of 3.8 years).
conclusionsThis study is one of the first to assess the cognitive profile of adult NPC patients. This profile is not specific to attention and executive dysfunctions; however, the preservation of storage in the episodic memory is promising for cognitive remediation. Further studies are needed to confirm the role of miglustat on cognition, but in this study, patients were stable under this treatment.
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