PMID- 12473762
OWN - NLM
STAT- MEDLINE
DCOM- 20030110
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 59
IP  - 11
DP  - 2002 Dec 10
TI  - Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic 
      analyses.
PG  - 1739-45
AB  - 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.
FAU - Dauvilliers, Y
AU  - Dauvilliers Y
AD  - Neurologie B, Hopital Gui-de-Chauliac, Montpellier, France.
FAU - Mayer, G
AU  - Mayer G
FAU - Lecendreux, M
AU  - Lecendreux M
FAU - Neidhart, E
AU  - Neidhart E
FAU - Peraita-Adrados, R
AU  - Peraita-Adrados R
FAU - Sonka, K
AU  - Sonka K
FAU - Billiard, M
AU  - Billiard M
FAU - Tafti, M
AU  - Tafti M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 333DO1RDJY (Serotonin)
RN  - 9007-49-2 (DNA)
RN  - EC 1.14.16.4 (Tryptophan Hydroxylase)
RN  - EC 2.1.1.6 (Catechol O-Methyltransferase)
RN  - VTD58H1Z2X (Dopamine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Autoimmune Diseases of the Nervous System/*genetics/*immunology/psychology
MH  - Catechol O-Methyltransferase/metabolism
MH  - DNA/genetics
MH  - Dopamine/physiology
MH  - Female
MH  - Genotype
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DQ beta-Chains
MH  - Humans
MH  - Kleine-Levin Syndrome/*genetics/*immunology/psychology
MH  - Male
MH  - Phenotype
MH  - Polymorphism, Genetic/genetics
MH  - Polysomnography
MH  - Serotonin/physiology
MH  - Sleep/physiology
MH  - Tryptophan Hydroxylase/metabolism
EDAT- 2002/12/11 04:00
MHDA- 2003/01/11 04:00
CRDT- 2002/12/11 04:00
PHST- 2002/12/11 04:00 [pubmed]
PHST- 2003/01/11 04:00 [medline]
PHST- 2002/12/11 04:00 [entrez]
AID - 10.1212/01.wnl.0000036605.89977.d0 [doi]
PST - ppublish
SO  - Neurology. 2002 Dec 10;59(11):1739-45. doi: 10.1212/01.wnl.0000036605.89977.d0.