Étude de dépistage de la maladie de Niemann-Pick de type C dans une population psychiatrique : résultats préliminaires

Abstract : Niemann-Pick disease type C (NPC) is a neurometabolic disease, rare, characterized by a defect in intracellular cholesterol transport resulting in an accumulation of sphingolipids in the brain. The prevalence of the disease is probably underestimated in psychiatric population. Objective: The objective of this study is to look within a population of adult psychotic patients those with NPC disease in order to estimate the prevalence and determine the need for any routine screening in this population target. Methods: This biomedical study, conducted in the health of the basin departments of Isère and Savoie, in a population of adult patients with psychotic symptoms with atypical features namely visual hallucinations, catatonia, a fluctuation of symptoms, an unusual or paradoxical response to treatment, confusion, progressive cognitive impairment. Preliminary Results: Thirty patients were screened but 7 patients were not involved in the study, including 4 patients because of too severe psychiatric disease and 3 patients refused blood collection. Of the 22 patients enrolled, 11 patients underwent screening for NPC disease patients by 6 and 5 patients genotyping assay of oxysterols. No patient received a skin biopsy with test filipin. No cases of NPC disease was found. These preliminary results are encouraging to continue to study even if the small number of patients does not allow for the time an accurate estimate of the prevalence.
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Master Thesis
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Sandra Sampietro. Étude de dépistage de la maladie de Niemann-Pick de type C dans une population psychiatrique : résultats préliminaires. Médecine humaine et pathologie. 2016. ⟨dumas-01958163⟩



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