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@article{186694,
        author = {P.Selvarasu and S.Parthiban and P.Krishnakumar and P.Pradeep and Dr.G.Rathinavel},
        title = {BIOMARKERS FOR NARCOLEPSY: A KEY TO UNLOCKING EARLY DIAGNOSIS AND ADVANCE TREATMENT},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {12},
        number = {6},
        pages = {2377-2381},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=186694},
        abstract = {Narcolepsy is a rare, lifelong chronic neurological disorder that severely disrupts the brain’s regulation of the sleep–wake cycle, leading to significant challenges in daily functioning. The condition is primarily characterized by excessive daytime sleepiness (EDS) and is categorized into Type 1 Narcolepsy (NT1), which typically presents with cataplexy, and Type 2 Narcolepsy (NT2), without cataplexy. NT1 pathophysiology is strongly associated with the loss of hypothalamic neurons that produce hypocretin (orexin), a deficiency diagnosed by low hypocretin-1 levels in the cerebrospinal fluid (CSF), and a strong link to the HLA-DQB1*06:02 genotype.
Despite scientific advancements, narcolepsy diagnosis remains challenging due to symptom overlap with other sleep and psychiatric disorders, resulting in substantial diagnostic delays that often exceed a decade. Standard tools like the Multiple Sleep Latency Test (MSLT) and polysomnography (PSG) have limitations regarding specificity and reliability, especially for NT2, as they are affected by medication and comorbidities. Furthermore, CSF hypocretin-1 measurement, though highly specific for NT1, is invasive and not widely available.
This review highlights the causes of narcolepsy, the limitations of current diagnostic methods, and the critical need for objective and accessible biomarkers. Research is exploring novel, non-invasive approaches, including serum proteomics/glycoproteomics, electroretinography (to distinguish NT1 from idiopathic hypersomnia), digital biomarkers using wearable devices, and AI/Machine Learning techniques for automating PSG analysis. Management is symptomatic and lifelong, requiring a multidisciplinary approach that combines non-pharmacological strategies with pharmacological treatments tailored for EDS or cataplexy. Continued validation of these emerging biomarkers is essential to simplify diagnosis, reduce the profound psychosocial burden of delays, and improve clinical outcomes.},
        keywords = {Narcolepsy, diagnosis, biomarker, recent treatment, emerging biomarkers.},
        month = {November},
        }