{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T09:42:07Z","timestamp":1777282927971,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Oxysterols (cholestane\u20103\u03b2,5\u03b1,6\u03b2\u2010triol and 7\u2010ketocholesterol) and N\u2010palmitoyl\u2010O\u2010phosphocholineserine (PPCS) are sensitive biomarkers for Niemann\u2010Pick disease type C (NPC) screening. However, false\u2010positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or other inborn errors of metabolism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To identify causes of false\u2010positive biomarker profiles mimicking NPC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a multicenter retrospective study of 15 patients with false\u2010positive oxysterols and PPCS profiles referred between 2017 and 2022 to two French NPC reference laboratories. Clinical data were collected via standardized chart review. The impact of Sertraline on NPC\u2010like biological features was evaluated using the filipin test in fibroblasts and biomarker analysis in sertraline\u2010treated patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Thirteen of 15 patients with false\u2010positive biomarkers were treated with sertraline. Two patients who discontinued sertraline showed normalization of biomarkers. The filipin test revealed that Sertraline disrupts intracellular cholesterol trafficking, a hallmark of NPC cellular features. Finally, among 47 sertraline\u2010treated patients without NPC\u2010suspicion, 26 (55%) had biomarker profile mimicking NPC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Sertraline use is frequently associated with elevated biomarkers that mimic NPC, representing a primary cause of false\u2010positive results in NPC screening. Genetic analysis of\n                      <jats:italic>NPC1<\/jats:italic>\n                      and\n                      <jats:italic>NPC2<\/jats:italic>\n                      remains essential to confirm NPC diagnosis. Most sertraline\u2010treated patients with false\u2010positive biomarkers presented predominantly atypical psychiatric symptoms, though one exhibited a clinical picture highly suggestive of NPC following prolonged sertraline exposure. The long\u2010term clinical effects of sertraline use need further evaluation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70411","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T08:51:43Z","timestamp":1777279903000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sertraline Treatment Can Mimic Niemann\u2010Pick Type C Biomarker Profile: A Diagnostic Pitfall"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1204-2529","authenticated-orcid":false,"given":"Maria","family":"Makrygianni","sequence":"first","affiliation":[{"name":"Neuro\u2010Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Parkinson's Disease and Movement Disorders Dept HYGEIA Hospital  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"Pagan","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Department Hospices Civils de Lyon  Bron France"},{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antony","family":"Citterio\u2010Quentin","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Department Hospices Civils de Lyon  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Rouvet","sequence":"additional","affiliation":[{"name":"Centre de Biotechnologie Cellulaire et bioth\u00e8que CRB HCL Hospices Civils de Lyon  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Dingeo","sequence":"additional","affiliation":[{"name":"Department of Biochemistry of Neurometabolic Diseases Piti\u00e9\u2010Salp\u00eari\u00e8re University Hospital, APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Hanin","sequence":"additional","affiliation":[{"name":"Child Psychiatry Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Laurent\u2010Levinson","sequence":"additional","affiliation":[{"name":"Child Psychiatry Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Laboratory of Childhood Genetic Diseases Sorbonne University, Armand Trousseau Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"},{"name":"Inborn Errors of Metabolism Clinical Unit Necker Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"H\u00e9ron","sequence":"additional","affiliation":[{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"},{"name":"Department of Pediatric Neurology, Reference Center for Lysosomal Diseases Armand Trousseau Hospital and FHU I2D2, APHP Sorbonne University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0740-2419","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Gourguechon","sequence":"additional","affiliation":[{"name":"Clinical Hematology Department University Hospital  Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4069-0483","authenticated-orcid":false,"given":"Daniele","family":"Mandia","sequence":"additional","affiliation":[{"name":"Neuro\u2010Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerome","family":"Guitton","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Department Hospices Civils de Lyon  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Lacout","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University Hospital Center Angers  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Schleinitz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University Hospital Center (CHU) of Marseille \u2013 Timone Hospital  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florient","family":"Potier","sequence":"additional","affiliation":[{"name":"Department of Neuro\u2010Cognition and Neuro\u2010Ophthalmology University Hospital Center (CHU) Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Flabeau","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Center of C\u00f4te Basque Bayonne  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsa","family":"Besse\u2010Pinot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Neurology Clermont\u2010Ferrand University Hospital  Clermont\u2010Ferrand France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Foudil","family":"Lamari","sequence":"additional","affiliation":[{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"},{"name":"Department of Biochemistry of Neurometabolic Diseases Piti\u00e9\u2010Salp\u00eari\u00e8re University Hospital, APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Department Hospices Civils de Lyon  Bron France"},{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1466-6957","authenticated-orcid":false,"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"Neuro\u2010Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Fili\u00e8re Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme (G2M)  France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann\u2010Pick Disease Type C","volume":"5","author":"Vanier M. 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Its Successful Use for the Diagnosis of Niemann\u2010Pick Type C Disease","volume":"437","author":"Boenzi S.","year":"2014","journal-title":"Clinica Chimica Acta; International Journal of Clinical Chemistry"},{"key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ymgme.2016.06.004","article-title":"Diagnostic Tests for Niemann\u2010Pick Disease Type C (NP\u2010C): A Critical Review","volume":"118","author":"Vanier M. 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N. D.","year":"2023","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"e_1_2_10_23_1","unstructured":"S. P.Kane \u201cSertraline \u2014 Drug Usage Statistics United States 2014\u20102023. ClinCalc DrugStats Database. 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