Semin Neurol 2017; 37(04): 446-460
DOI: 10.1055/s-0037-1605554
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Diagnosis and Management of Narcolepsy

Logan Schneider1, Emmanuel Mignot1
  • 1Stanford Department of Psychiatry and Behavioral Medicine, Center for Sleep Sciences and Medicine, Stanford University Medical School, Palo Alto, California
Further Information

Publication History

Publication Date:
24 August 2017 (online)

Abstract

Type 1 narcolepsy is caused by deficient hypocretin signaling in the central nervous system (CNS), and is distinct from other primary CNS hypersomnias, which seem to lay along a spectrum from type 2 narcolepsy to idiopathic hypersomnia. There appears to be a strong autoimmune diathesis to the development of type 1 narcolepsy, as evidenced by the near universal presence of HLA-DQB1*06:02 in patients. Growing knowledge of the immunogenetic basis of the disease is supported by genetic studies and seasonal variation of type 1 narcolepsy incidence following winter upper respiratory infections (e.g., strep throat and influenza). Despite improved diagnostic accuracy of adding cerebrospinal fluid hypocretin measurement to the traditional workup, recognition of the disorder remains limited by its moderate prevalence and atypical manifestations in different ethnic groups. Treatments are currently symptom-based, and have been extended to other hypersomnias with mixed results.