Annals of clinical and translational neurology · 2026
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Makrygianni Maria, Pagan Cecile, Citterio-Quentin Antony, Rouvet Isabelle, Dingeo Giulia, Hanin Cyril, Laurent-Levinson Claudine, Pichard Samia, Héron Bénédicte, Gourguechon Clément, Mandia Daniele, Guitton Jerome, Lacout Carole, Schleinitz Nicolas, Potier Florient, Flabeau Olivier, Besse-Pinot Elsa, Lamari Foudil, Pettazzoni Magali, Nadjar Yann
Аннотация
BACKGROUND: Oxysterols (cholestane-3β,5α,6β-triol and 7-ketocholesterol) and N-palmitoyl-O-phosphocholineserine (PPCS) are sensitive biomarkers for Niemann-Pick disease type C (NPC) screening. However, false-positive 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.
OBJECTIVE: To identify causes of false-positive biomarker profiles mimicking NPC.
METHODS: We conducted a multicenter retrospective study of 15 patients with false-positive 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-like biological features was evaluated using the filipin test in fibroblasts and biomarker analysis in sertraline-treated patients.
RESULTS: Thirteen of 15 patients with false-positive 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-treated patients without NPC-suspicion, 26 (55%) had biomarker profile mimicking NPC.
INTERPRETATION: Sertraline use is frequently associated with elevated biomarkers that mimic NPC, representing a primary cause of false-positive results in NPC screening. Genetic analysis of NPC1 and NPC2 remains essential to confirm NPC diagnosis. Most sertraline-treated patients with false-positive biomarkers presented predominantly atypical psychiatric symptoms, though one exhibited a clinical picture highly suggestive of NPC following prolonged sertraline exposure. The long-term clinical effects of sertraline use need further evaluation.
OBJECTIVE: To identify causes of false-positive biomarker profiles mimicking NPC.
METHODS: We conducted a multicenter retrospective study of 15 patients with false-positive 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-like biological features was evaluated using the filipin test in fibroblasts and biomarker analysis in sertraline-treated patients.
RESULTS: Thirteen of 15 patients with false-positive 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-treated patients without NPC-suspicion, 26 (55%) had biomarker profile mimicking NPC.
INTERPRETATION: Sertraline use is frequently associated with elevated biomarkers that mimic NPC, representing a primary cause of false-positive results in NPC screening. Genetic analysis of NPC1 and NPC2 remains essential to confirm NPC diagnosis. Most sertraline-treated patients with false-positive biomarkers presented predominantly atypical psychiatric symptoms, though one exhibited a clinical picture highly suggestive of NPC following prolonged sertraline exposure. The long-term clinical effects of sertraline use need further evaluation.