Distúrbios do sono e cronotipos em pacientes com epilepsia mioclônica juvenil: avaliação clínica e genética

• Autor(a) principal: Santos, Bruna Priscila dos
• Data de Publicação: 2013
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Institucional da Universidade Federal de Alagoas (UFAL)
• Texto Completo: http://www.repositorio.ufal.br/handle/riufal/4540
• topic: Epilepsia mioclônica juvenil; Sono – Distúrbios; Cronotipos; Estudo de associação; Genes relógio; Juvenile Myoclonic Epilepsy; Sleep - Disorders; Chronotypes; Association study; Clock genes; CNPQ::CIENCIAS DA SAUDE

Juvenile myoclonic epilepsy (JME) is responsible for 10% of all epilepsies and is the most common form of idiopathic generalized epilepsy. Symptoms typically emerge in adolescence, especially between 12-18 years and are characterized by myoclonic seizures on awakening associated or not with tonic-clonic (CTCG) and / or absence seizures. According to clinical observations, this syndrome is associated with characteristics of the sleep-wake cycle. Therefore, we investigated the occurrence of sleep disorders and circadian preference in patients from the State of Alagoas diagnosed with JME, seeking to identify possible correlations between genetic polymorphisms in the genes Clock, Per2 and Per3 known to be involved in the generation and regulation of circadian rhythms. Thus, we explored the DNA bank of patients with epilepsy and controls from the state of Alagoas to evaluate if the gene polymorphisms T3111C in Clock, C111G in Per2 gene and VNTR (4 and 5 repetitions) in Per3 gene are associated with JME. To investigate sleep and diurnal preference patients were submitted to the following protocol: application of Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Morningness-Eveningness Questionnaire (MEQ) and a clinical interview about the presence of clinical criteria for the most important disturbances. Genotyping of patients and controls was performed by PCR and / or PCR-RFLP. Clinical analysis, performed in 74 patients and 76 controls, detected changes in patients' sleep as: insomnia (p <0,001), poor sleep quality (p = 0,006), moderate and severe snoring (p = 0,012), tiredness on waking (p = 0,007) and morning headache (p = 0,008). Patients also were associated with diurnal evening preference (p=0,021). As for genetic analysis, 97 patients and 212 control subjects were genotyped for each polymorphism. No association was found between polymorphisms of Per2 (p = 0,60), Per3 (0,94) and Clock (p=0,15) genes and JME, both individually and in interaction analysis (p = 0,67). Therefore, this study suggests that patients with JME have a higher prevalence of sleep disturbances and have a tendency to eveningness. Moreover, we suggest that the studied polymorphisms are not associated with JME in the patients from Alagoas, but are possibly associated with diurnal preference in the general population.