BACKGROUND: Kleine-Levin syndrome (KLS) is a rare disorder of unknown etiology. Pathophysiologic hypotheses include a hypothalamic dysfunction and abnormalities in the central serotonin and dopamine metabolism. Several clinical symptoms also suggest an underlying autoimmune process. OBJECTIVE: To systematically investigate patients with KLS with reference to the available hypotheses. METHODS: The authors collected clinical, polysomnographic, CSF, CT, and MRI records and analyzed gene polymorphisms of HLA-DQB1, tryptophan hydroxylase (TpH), and catechol-O-methyltransferase (COMT) in 30 unrelated patients with KLS and their families. The genotype data were contrasted with data from a normal control population. RESULTS: Only human leukocyte antigen (HLA)-DQB1*0201 allele frequency was significantly increased in patients with KLS. Three patients with KLS but none of the control subjects were DQB1*0201 homozygous. Two affected subjects from the same family were DQB1*0201 homozygous. In 17 DQB1*0201 heterozygous parents, 11 (64.7%) had transmitted this allele, suggesting a preferential transmission. CONCLUSION: These findings, together with the young age at onset, the recurrence of symptoms, and the frequent infectious precipitating factors, suggest an autoimmune etiology for Kleine-Levin syndrome.
BACKGROUND: Kleine-Levin syndrome (KLS) is a rare disorder of unknown etiology. Pathophysiologic hypotheses include a hypothalamic dysfunction and abnormalities in the central serotonin and dopamine metabolism. Several clinical symptoms also suggest an underlying autoimmune process. OBJECTIVE: To systematically investigate patients with KLS with reference to the available hypotheses. METHODS: The authors collected clinical, polysomnographic, CSF, CT, and MRI records and analyzed gene polymorphisms of HLA-DQB1, tryptophan hydroxylase (TpH), and catechol-O-methyltransferase (COMT) in 30 unrelated patients with KLS and their families. The genotype data were contrasted with data from a normal control population. RESULTS: Only humanleukocyte antigen (HLA)-DQB1*0201 allele frequency was significantly increased in patients with KLS. Three patients with KLS but none of the control subjects were DQB1*0201 homozygous. Two affected subjects from the same family were DQB1*0201 homozygous. In 17 DQB1*0201 heterozygous parents, 11 (64.7%) had transmitted this allele, suggesting a preferential transmission. CONCLUSION: These findings, together with the young age at onset, the recurrence of symptoms, and the frequent infectious precipitating factors, suggest an autoimmune etiology for Kleine-Levin syndrome.
Authors: Rosa Peraita-Adrados; José L Vicario; Mehdi Tafti; Manuel García de León; Michel Billiard Journal: Sleep Date: 2012-05-01 Impact factor: 5.849
Authors: Aditya Ambati; Ryan Hillary; Smaranda Leu-Semenescu; Hanna M Ollila; Ling Lin; Emmanuel H During; Neal Farber; Thomas J Rico; Juliette Faraco; Eileen Leary; Andrea N Goldstein-Piekarski; Yu-Shu Huang; Fang Han; Yakov Sivan; Michel Lecendreux; Pauline Dodet; Makoto Honda; Natan Gadoth; Sona Nevsimalova; Fabio Pizza; Takashi Kanbayashi; Rosa Peraita-Adrados; Guy D Leschziner; Rosa Hasan; Francesca Canellas; Kazuhiko Kume; Makrina Daniilidou; Patrice Bourgin; David Rye; José L Vicario; Birgit Hogl; Seung Chul Hong; Guiseppe Plazzi; Geert Mayer; Anne Marie Landtblom; Yves Dauvilliers; Isabelle Arnulf; Emmanuel Jean-Marie Mignot Journal: Proc Natl Acad Sci U S A Date: 2021-03-23 Impact factor: 11.205