Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses.

Details

Serval ID
serval:BIB_71C55D598F5F
Type
Article: article from journal or magazin.
Collection
Publications
Title
Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses.
Journal
Neurology
Author(s)
Dauvilliers Y., Mayer G., Lecendreux M., Neidhart E., Peraita-Adrados R., Sonka K., Billiard M., Tafti M.
ISSN
0028-3878[print], 0028-3878[linking]
Publication state
Published
Issued date
12/2002
Volume
59
Number
11
Pages
1739-1745
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.
Keywords
Adolescent, Adult, Age of Onset, Autoimmune Diseases of the Nervous System/genetics, Autoimmune Diseases of the Nervous System/immunology, Catechol O-Methyltransferase/metabolism, DNA/genetics, Dopamine/physiology, Female, Genotype, HLA-DQ Antigens/genetics, Humans, Kleine-Levin Syndrome/genetics, Kleine-Levin Syndrome/immunology, Male, Phenotype, Polymorphism, Genetic/genetics, Polysomnography, Serotonin/physiology, Sleep/physiology, Tryptophan Hydroxylase/metabolism
Pubmed
Web of science
Create date
24/01/2008 15:55
Last modification date
20/08/2019 14:30
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