EAN 2024 | Diagnosing narcolepsy: the revised classification of CNS hypersomnolence disorders

Lucie Barateau, MD, PhD, Gui-de-Chauliac Hospital, CHU Montpellier, Montpellier, France, discusses narcolepsy and its diagnosis. Narcolepsy types 1 and 2 (NT1 and NT2) are rare disorders that affect children and young adults, characterized by excessive daytime sleepiness. The presence of cataplexy distinguishes NT1 from NT2. Pathophysiologically, orexin deficiency underlies NT1, but NT2 is less well understood and exhibits normal levels of orexin. Beyond clinical features, lumbar puncture can be used to detect orexin deficiency in the cerebrospinal fluid for NT1 diagnosis. Polysomnography and multiple sleep latency tests (MSLT) are also used in diagnosis. Dr Barateau highlights that MSLTs, while once the gold standard for diagnosis, are no longer mandatory for diagnosis of NT1 if the patient has cataplexy and either orexin deficiency or nocturnal sleep onset rapid eye movement periods (nSOREMP). This is hotly debated in the field; arguments for the use of MSLTs are that cataplexy can be difficult to diagnose and nSOREMP is not specific enough. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.

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