Assuntos
Autoanticorpos/líquido cefalorraquidiano , Síndrome de Kleine-Levin/diagnóstico , Receptores de N-Metil-D-Aspartato/imunologia , Adolescente , Antimaníacos/uso terapêutico , Eletroencefalografia/métodos , Humanos , Síndrome de Kleine-Levin/líquido cefalorraquidiano , Síndrome de Kleine-Levin/tratamento farmacológico , Síndrome de Kleine-Levin/imunologia , Encefalite Límbica/líquido cefalorraquidiano , Encefalite Límbica/diagnóstico , Carbonato de Lítio/uso terapêutico , Masculino , Receptores de Glutamato/imunologia , Receptores de N-Metil-D-Aspartato/análise , Resultado do TratamentoRESUMO
Twin data and the results generated by research are driven by the behavioral and physical attributes of twin participants. However, many investigators working with twin data have limited personal contact with actual twin-pairs. This situation may be limiting with respect to interpretation of results and formulation of new hypotheses. In an attempt to rectify this issue, key aspects of the interconnected lives of co-twins in three monozygotic male twin-pairs are presented. The section that follows includes a review of twin research on Kleine-Levin syndrome, political discussion, twin relationship quality and urinary cortisol level, and guidelines for determining sample sizes. The final part of this report presents twin-related news items relating to twins' same day deliveries, death of a twin Holocaust survivor, the Vindman twins, a twin festival in France and the tiniest twins on record.
Assuntos
Gêmeos , Feminino , França , Férias e Feriados , Holocausto , Humanos , Hidrocortisona/urina , Síndrome de Kleine-Levin/genética , Síndrome de Kleine-Levin/imunologia , Masculino , Política , Gravidez , Gravidez de Gêmeos , Sistema de Registros , Sobreviventes , Gêmeos/psicologia , Gêmeos Dizigóticos , Gêmeos MonozigóticosRESUMO
Kleine-Levin syndrome (KLS) is the commonest recurrent sleep disorder, with a prevalence of 1-2 per million population. Clear diagnostic criteria are now defined, but effective treatment remains elusive. The significant body of published literature allows consideration of possible aetiological mechanisms, an understanding of which could guide the development of therapeutic strategies. Functional imaging studies have been inconclusive; although diencephalic abnormalities are a common finding, no consistent pattern has emerged, and these studies have not revealed the mechanism(s) underlying the development of the abnormalities detected. An autoimmune aetiology is consistent with the available data. In this review, we argue that, in order to further our understanding of KLS, there needs to be a co-ordinated international effort to standardise approaches to functional imaging studies, genetic analyses that specifically address the possibility of an autoimmune aetiology, and clinical trials of immunosuppressive therapies.
Assuntos
Síndrome de Kleine-Levin/etiologia , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Doenças Autoimunes/terapia , Humanos , Síndrome de Kleine-Levin/genética , Síndrome de Kleine-Levin/imunologia , Síndrome de Kleine-Levin/terapiaRESUMO
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.
Assuntos
Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/imunologia , Síndrome de Kleine-Levin/genética , Síndrome de Kleine-Levin/imunologia , Adolescente , Adulto , Idade de Início , Doenças Autoimunes do Sistema Nervoso/psicologia , Catecol O-Metiltransferase/metabolismo , DNA/genética , Dopamina/fisiologia , Feminino , Genótipo , Antígenos HLA-DQ/genética , Cadeias beta de HLA-DQ , Humanos , Síndrome de Kleine-Levin/psicologia , Masculino , Fenótipo , Polimorfismo Genético/genética , Polissonografia , Serotonina/fisiologia , Sono/fisiologia , Triptofano Hidroxilase/metabolismoRESUMO
MSLT and immunogenetic findings in two unrelated Italian subjects with recurrent monosymptomatic hypersomnia are reported. In both patients MSLT documented a markedly increased daytime sleep propensity during the attacks without augmented REM sleep pressure. Both patients share the same HLA haplotype (HLA-DR1, DQ1) which has been found in Kleine-Levin syndrome. This makes these subtypes of recurrent hypersomnia indistinguishable one from the other, under the immunogenetic profile, but permits differentiation from narcolepsy which is HLA-DR2, DQ1 closely linked.
