Lívia Leite Góes Gitaí

Prevalence of restless legs syndrome in the rural town of Cassia dos Coqueiros in Brazil

OBJECTIVEnTo estimate the prevalence and evaluate the characteristics and severity of restless legs syndrome (RLS) in an urban Brazilian community.nnnMETHODSnA transversal study was conducted over an 18-month period. A neurologist conducted 1155 interviews using the diagnostic criteria of the International Restless Legs Syndrome Study Group (IRLSSG).nnnRESULTSnThe lifetime prevalence of RLS was found to be 6.40%. Prevalence during the last year, the last month, and the last week were found to be 5.71%, 5.36%, and 4.15%, respectively. A greater proportion of women met diagnostic criteria for RLS compared to men (OR: 2.63, CI 95%: 1.54-4.51). Furthermore, participants with low monthly family income (<

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

1575 USD) had a lower prevalence of disease compared to those with a high monthly family income (>

Genes e epilepsia I: epilepsia e alterações genéticas

1575 USD) (OR: 2.91, CI 95%: 1.41-5.98).nnnCONCLUSIONSnThis is the first epidemiologic study of RLS conducted in a Brazilian population. The overall prevalence of disease and the greater proportion of RLS in women found in this study are similar to the findings of other studies conducted in western countries. The association of RLS with high family income is unpublished and should be confirmed in subsequent studies.

PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy

BACKGROUNDnJuvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome with genetic basis and accounts for 10% of all forms of epilepsy. Despite the existence of rare mutations responsible for some familial forms inherited in a Mendelian pattern, the genetics of JME is complex and probably involves multiple genes. Because of widespread distribution in the central nervous system (CNS) and their ability to produce postsynaptic inhibition, GABA (A) receptor subunits (GABRs) encoding genes represent high ranking candidates for epilepsy susceptibility.nnnAIMnThis case/control study was designed to investigate whether the rs211037 of the GABRG2 gene is a risk factor for JME in the Brazilian population.nnnMATERIALS AND METHODSnThe polymorphism was genotyped in 98 patients and 130 controls using polymerase chain reaction-restriction fragment length polymorphism method. Descriptive and statistical analyses were performed using SNP stat software.nnnRESULTSnGenotype proportions and allele frequencies for the rs211037 polymorphism of the GABARG2 gene did not differ significantly between the groups, even when the odds ratio was adjusted for clinical variables.nnnCONCLUSIONnThese results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome.

Genes e epilepsia II: expressão gênica diferencial

INTRODUCTIONnEpilepsy is a neurological disorder characterized by spontaneous and recurrent seizures with an estimated prevalence of 2-3 % in the world population. Epileptic seizures are the result of paroxystic and hypersynchronous electrical activity, preferentially in cortical areas, caused by panoply of structural and neurochemical dysfunctions. Recent advances in the field have focused on the molecular mechanisms involved in the epileptogenic process.nnnOBJECTIVESnIn the present review, we describe the main genetic alterations associated to the process of epileptogenesis and discuss the new findings that are shedding light on the molecular substrates of monogenic idiopathic epilepsies (MIE) and on genetically complex epilepsies (GCE).nnnRESULTS AND CONCLUSIONnLinkage and association studies have shown that mutations in ion channel genes are the main causes of MIE and of predisposition for GCE. Moreover, mutations in genes involved in neuronal migration, glycogen metabolism and respiratory chain are associated to other syndromes involving seizures. Therefore, different gene classes contribute to the epileptic trait. The identification of epilepsy-related gene families can help us understand the molecular mechanisms of neuronal hyperexcitability and recognize markers of early diagnosis as well as new treatments for these epilepsies.

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

Sleep disturbance is common in several epilepsy types, such as juvenile myoclonic epilepsy (JME). Genetic background could increase susceptibility to seizure and sleep abnormalities. From this perspective, a susceptibility gene for sleep disturbance or chronotype could contribute to the genetic susceptibility threshold for epilepsy and vice versa. Accordingly, we investigated whether functional clock gene polymorphisms (PER2 111C>G, CLOCK 3111T>C, and PER3 VNTR) might influence the risk for JME. All these polymorphisms have recently been reported to be associated with sleep disturbance, diurnal variation, and neurological diseases. The polymorphisms were genotyped in 97 patients and 212 controls using polymerase chain reaction or restriction fragment length polymorphism methods. No significant differences were observed in the genotypic and allelic frequencies of these polymorphisms between cases and controls even when analyses were restricted to patients that presented a diurnal preferential seizure occurrence. We also tested for interactions between polymorphisms by multifactor dimensionality reduction analysis. None of the combined genotypes differed significantly between the groups. These results present no evidence for an association of these polymorphisms with JME. Further studies including other types of epilepsy and/or other functional polymorphisms are required to investigate the possible relationship between clock genes and the genetic susceptibility to chronic seizure.

Brazilian consensus on guidelines for diagnosis and treatment for restless legs syndrome

We introduce some investigative approaches and findings on differential gene expression in human epileptic time as well as in animal models of epilepsy. Molecular alterations observed in the epileptic brain suggest that they may disclose different psychopathological stages. It is possible that different gene expression combinations involved in cell death, reactive oxygen metabolism, synaptic transmission and immune response and of neurotrophins reflect distinct functional properties of different neuronal and glial populations, which determine specific brain region responses. Understanding the molecular patterns of gene expression following epileptogenic insults will be of great importance for the development of treatments aiming to reduce neurotoxicity and subtle synaptic dyfunctions present in the early stages as well as during the chronic phase of epilepsy.

Epilepsia mioclônica juvenil: estudo clínico, epidemiológico, terapêutico e da qualidade de vida

UNLABELLEDnJuvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels.nnnOBJECTIVEnThe present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population.nnnRESULTSnThe polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls.nnnCONCLUSIONnThese results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.

010 — (BOR0176) PER2, PER3, and clock polymorphisms are not associated with juvenile myoclonic epilepsy in a sample of the Brazilian population

The Consensus on restless legs syndrome is an effort of neurologists from several Brazilian states, which tirelessly reviewed the literature of recent years in search of evidence, both in regard to diagnosis and treatment, according to the Oxford Centre for Evidence-based Medicine.

081 RESTLESS LEGS SYNDROME: A COMMUNITY-BASED STUDY

INTRODUCTION: The Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy that, despite being descripted for more than a century, it is still a clinical entity often misdiagnosed. OBJECTIVE: Introduce the clinical, epidemiological and therapeutic profile of patients with JME, addition to measuring the quality of their life. METHODOLOGY: Nineteen patients carrying JME were evaluated. They had been examinated at the Federal University of Alagoas Academic Hospital, with the Clinical Enquiry Protocol and the QOLIE-31 (Quality of life in epilepsy), Brasilian version. RESULTS: Among the 19 selected patients, 63% were female; the average age for the first seizure was twelve years (±3); the epilepsy familiar history were positive in 78,9% of the patients; all patients presented myoclonic seizures with matinal predominance associated to generalized tonic-clonic seizures; 14 patients (73,7%) were in monotherapy, 13 of these with sodium valproate. The Overall score of QOLIE-31 range from 26 to 98, with an average score of 62,1 (±18,4) and T-score (standardized score) corresponding 47. CONCLUSION: The analysis helps considerably in the best characterization of this group of patients and quantifies for the first time, through validated instrument, the quality of life of them, which can no longer be ignored in their management.