• The genetics of narcolepsy Dorothee Chabas

    The Genetics of Narcolepsy | Annual Review of Genomics and ... Название: The genetics of narcolepsy Dorothee Chabas
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    The Genetics of Narcolepsy | Annual Review of Genomics and ...
    Dorothée Chabas,1 Shahrad Taheri,2 Corinne Renier,2 and Emmanuel Mignot2 ... The tight association between narcolepsy-cataplexy and the HLA allele ...

    The genetics of narcolepsy Dorothee Chabas

    Federation de neurologie, batiment paul castaigne, hopital salpetriere, 47-83 boulevard de lhopital, 75 013 paris, france. Other pathophysiologic models involving the microglia and the release of specific cytokines in the cns may be involved and are being explored. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role.

    In spite of an association with immune-related polymorphisms, narcolepsy does not appear to be a classic autoimmune disease. Narcolepsy-cataplexy is a disabling sleep disorder characterized by excessive daytime sleepiness and abnormal rem sleep. In this model, narcolepsy is transmitted as a single autosomal recessive trait, canarc-1.

    Even if genuine multiplex families are rare, 1 to 2 of the first-degree relatives of narcolepsy patients manifest the disorder, compared with 0. Department of psychiatry and behavioral science, stanford center for narcolepsy research, school of medicine, palo alto, ca 94304-5485, usa. More than 85 of all narcoleptic patients with definite cataplexy share a specific hla allele, hla dqb10602 (most often in combination with hla dr2), compared with 12 to 38 of the general population, as evaluated in various ethnic groups.

    The tight association between narcolepsy-cataplexy and the hla allele dqb10602 suggests that narcolepsy has an autoimmune etiology. Though most patients with narcolepsy-cataplexy are hypocretin deficient, mutations or polymorphisms in hypocretin-related genes are extremely rare. One of the predisposing genetic factors is located in the mhc dq region.

    . In recent years, extensive genetic studies in animals, using positional cloning in dogs and gene knockouts in mice, have identified abnormalities in hypothalamic hypocretin (orexin) neurotransmission as key to narcolepsy pathophysiology. The importance of environmental factors is evidenced by the reported 25 to 31 of monozygotic twins who are concordant for narcolepsy.

    Studies using a canine model of narcolepsy illustrate the importance of non-mhc genes in disease predisposition. The development of human narcolepsy involves environmental factors acting on a specific genetic background. This approach, together with positional cloning studies in humans and canines, should reveal the cause of narcolepsy and open new therapeutic avenues. Genetic factors other than hla are also likely to be involved. It is anticipated that susceptibility genes that are independent of hla and impinge on the hypocretin neurotransmitter system are isolated in human narcolepsy.


    the genetics of narcolepsy - Semantic Scholar


    Dorothée Chabas,1 Shahrad Taheri,2 Corinne Renier,2 and ... describe and discuss the genetics of narcolepsy in view of the recent discoveries through genetic ...

    The genetics of narcolepsy Dorothee Chabas

    The genetics of narcolepsy. - NCBI
    The genetics of narcolepsy. ... de l'hopital, 75 013 Paris, France. dorothee.chabas @psl.ap-hop-paris.fr. Human narcolepsy is a genetically complex disorder.
    The genetics of narcolepsy Dorothee Chabas chabas @psl. More than 85 of all narcoleptic patients with definite cataplexy share a specific hla allele, hla dqb10602 (most often in combination with hla dr2), compared with 12 to 38 of the general population, as evaluated in various ethnic groups. fr. Even if genuine multiplex families are rare, 1 to 2 of the first-degree relatives of narcolepsy patients manifest the disorder, compared with 0. Other pathophysiologic models involving the microglia and the release of specific cytokines in the cns may be involved and are being explored. The importance of environmental factors is evidenced by the reported 25 to 31 of monozygotic twins who are concordant for narcolepsy. de l'hopital, 75 013 Paris, France. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role.
  • Genetic and familial aspects of narcolepsy. - NCBI - NIH


    Studies using a canine model of narcolepsy illustrate the importance of non-mhc genes in disease predisposition. One of the predisposing genetic factors is located in the mhc dq region. This approach, together with positional cloning studies in humans and canines, should reveal the cause of narcolepsy and open new therapeutic avenues. Department of psychiatry and behavioral science, stanford center for narcolepsy research, school of medicine, palo alto, ca 94304-5485, usa. Genetic factors other than hla are also likely to be involved.

    More than 85 of all narcoleptic patients with definite cataplexy share a specific hla allele, hla dqb10602 (most often in combination with hla dr2), compared with 12 to 38 of the general population, as evaluated in various ethnic groups. In spite of an association with immune-related polymorphisms, narcolepsy does not appear to be a classic autoimmune disease. Though most patients with narcolepsy-cataplexy are hypocretin deficient, mutations or polymorphisms in hypocretin-related genes are extremely rare. Federation de neurologie, batiment paul castaigne, hopital salpetriere, 47-83 boulevard de lhopital, 75 013 paris, france. The tight association between narcolepsy-cataplexy and the hla allele dqb10602 suggests that narcolepsy has an autoimmune etiology.

    The development of human narcolepsy involves environmental factors acting on a specific genetic background. The importance of environmental factors is evidenced by the reported 25 to 31 of monozygotic twins who are concordant for narcolepsy. Narcolepsy-cataplexy is a disabling sleep disorder characterized by excessive daytime sleepiness and abnormal rem sleep. In this model, narcolepsy is transmitted as a single autosomal recessive trait, canarc-1. Other pathophysiologic models involving the microglia and the release of specific cytokines in the cns may be involved and are being explored. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role. It is anticipated that susceptibility genes that are independent of hla and impinge on the hypocretin neurotransmitter system are isolated in human narcolepsy. Even if genuine multiplex families are rare, 1 to 2 of the first-degree relatives of narcolepsy patients manifest the disorder, compared with 0. In recent years, extensive genetic studies in animals, using positional cloning in dogs and gene knockouts in mice, have identified abnormalities in hypothalamic hypocretin (orexin) neurotransmission as key to narcolepsy pathophysiology. .

    Genetic and familial aspects of narcolepsy. Mignot E(1). Author information: (1) Department of Psychiatry and Behavioral Science, Stanford Center for Narcolepsy ...

    Eating Disorder and Metabolism in Narcoleptic Patients | Sleep ...

    Oct 1, 2007 ... AbstractStudy Objective:. To evaluate eating behavior and energy balance as a cause of increased body mass index (BMI) in narcolepsy.
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  • The genetics of narcolepsy Dorothee Chabas

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