Narcolepsy: an interface among neurology, immunology, sleep, and genetics / Narcolepsia: uma interface entre neurologia, imunologia, sono e genética

Abstract Narcolepsy is a primary disorder of the central nervous system resulting from genetic, environmental, and immunological interactions defined as excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation. The pathophysiology is not entirely known, but the interaction among genetic predisposition, environmental exposition, and immune component with consequent hypocretin-1 deficiency is the model to explain narcolepsy type I. The mechanism of narcolepsy type II is less understood. There is a delay of over ten years for the diagnosis of narcolepsy around the world. Patients with narcolepsy have many comorbidities with a negative impact on quality of life. The treatment of narcolepsy must contain an educational approach for the family, coworkers, and patients. Scheduled naps and sleep hygiene are essential to minimize the dose of medications. Much progress has been seen in the pharmacological treatment of narcolepsy with new stimulants, different presentations of oxybate, and recent studies with orexin agonists. Narcolepsy is a rare disease that needs to be more understood and highlighted to avoid delayed diagnosis and severe disabilities in patients.

Resumo A narcolepsia é um distúrbio primário do sistema nervoso central resultante das interações genéticas, ambientais e imunológicas definidas como sonolência diurna excessiva mais cataplexia, alucinações, paralisia do sono e fragmentação do sono. A fisiopatologia não é completamente conhecida, mas a interação entre predisposição genética, exposição ambiental e componente imunológico com consequente deficiência de hipocretina-1 é o modelo para explicar a narcolepsia tipo I. O mecanismo da narcolepsia tipo II é menos compreendido. Há um atraso de mais de dez anos para o diagnóstico da narcolepsia em todo o mundo. Pacientes com narcolepsia apresentam muitas comorbidades com impacto negativo na qualidade de vida. O tratamento da narcolepsia deve conter uma abordagem educativa para a família, colegas de trabalho e pacientes. Cochilos programados e higiene do sono são importantes para minimizar a dose dos medicamentos. Muito progresso foi observado no tratamento farmacológico da narcolepsia com novos estimulantes, diferentes apresentações de oxibato e estudos recentes com agonistas de orexina. A narcolepsia é uma doença rara que precisa ser mais compreendida e destacada para evitar atrasos no diagnóstico e incapacidades graves nos pacientes.

Secondary type 1 narcolepsy after traumatic brain injury: a case report / 中华神经科杂志

Type 1 narcolepsy is a rare central nervous system disorder that is believed to result from the interaction of environmental and genetic factors. Traumatic brain injury (TBI) is one of the most common causes of secondary narcolepsy. Currently, there are very few reports on post-TBI narcolepsy, and this patient is the first reported case of HLA-DQB1 *06:02-positive type 1 narcolepsy following TBI in China. The clinical data of this patient are retrospectively analyzed to improve the understanding of the diagnosis and pathogenesis of the disease among clinicians.

Changes and predictive value of degree centrality in patients with narcolepsy type 1 based on resting-state functional magnetic resonance imaging / 中华神经科杂志

Objective:To investigate the abnormal changes of the nodal centrality of the whole-brain network in patients with narcolepsy type 1 (NT1) through the degree centrality (DC) technique of resting-state magnetic resonance and the predictive value for NT1.Methods:From September 2019 to November 2021, 18 NT1 patients who were first diagnosed and never accepted managements and 18 age-, sex-matched healthy controls recruited by advertisement in the Second Affiliated Hospital of Nanchang University were required for resting-state functional magnetic resonance imaging scans and clinical scale assessment, including Epworth Sleepiness Scale (ESS), Self-rating Anxiety Scale, Self-rating Depression Scale, Pittsburgh Sleep Quality Index, Insomnia Severity Scale and Multidimensional Fatigue Inventory-20 (MFI-20). The differences in DC values between the NT1 patients and healthy controls were analyzed using the DC method. Then, the correlation between DC values in differential brain regions and clinical characteristics of NT1 was explored through Pearson correlation analysis. The receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of the DC values in the differential brain regions for NT1 patients.Results:Compared with the healthy controls, the DC value of the right superior temporal gyrus was increased, while the DC values of the bilateral middle frontal gyrus and the right precuneus were decreased in the NT1 patients (all P<0.05, Gaussian random-field correction). The DC value of the right superior temporal gyrus in the NT1 patients was positively correlated with the ESS score ( r=0.82, P<0.001) and MFI-20 score ( r=0.48, P=0.040). The DC value of the right middle frontal gyrus was positively correlated with the disease course ( r=0.51, P=0.032). The ROC curve showed that the area under the curve of NT1 predicted by the DC value of the right superior temporal gyrus was 0.95. And the areas under the curve of non-NT1 predicted by the DC values of the left middle frontal gyrus, right middle frontal gyrus, and right precuneus were 0.86, 0.84 and 0.87, respectively. Conclusions:NT1 patients have abnormal resting-state DC in the default network, executive network core brain regions, and superior temporal gyrus. And the DC value in the right superior temporal gyrus may be a potential biomarker of NT1 patients.

Chinese guidelines for diagnosis and treatment of narcolepsy (2022 edition): updated interpretation / 中华神经科杂志

Chinese guidelines for diagnosis and treatment of narcolepsy (2022) as the second edition of Chinese guidelines for narcolepsy, had made important updates compared with the 2015 edition in some aspects, such as epidemiology, pathogenesis, clinical manifestations, scale assessment and laboratory examination, diagnostic criteria and treatment. This article will focus on the above updated content.

DEVELOPMENT AND VALIDATION OF YOGA MODULE FOR OBSTRUCTIVE SLEEP APNEA

Background: Sleep is an essential component of human life because it provides for relaxation and recovery from the stresses of everyday living. Reduced sleep quantity or quality leads to sleep deprivation which may offer indirect dangers by affecting cognitive and physical performance and raising the chance of motor vehicle and occupational accidents. Insomnia chronic sleep debt snoring sleep apnea circadian rhythm disturbances (including shift work syndrome) RLS parasomnias and uncommon diseases such as narcolepsy are the most common sleep disorders found in sleep clinics according to experts. Obstructive Sleep apnea is a common disorder in which your breathing stops and starts periodically while you sleep. To determine the design and validation of an Integrated Yoga Module (IYM) for OSA patients. The ?rst phase - IYM for OSA - was created based on a survey of classic books and Materials and Procedures: recently available research studies. The designed IYM was validated by 20 subject matter (yoga) experts in the second phase. Lawshe's formula was used to calculate the content-validity ratio (CVR). Yoga practices were created for the OSA Results: Integrated Yoga Module. The ?nal Integrated Yoga Module featured yoga practises with CVR ?0.5 that were assessed by 20 yoga experts and agreed in faculty group discussion. The yoga practices were designed and validated for IYM for Conclusion: OSA. By applying Lawshe's content validity criteria 20 yoga professionals veri?ed the IYM design.

Dream-Reality confusion: differential psychiatric diagnosis in narcoleptic subjects / Confusão sonho-realidade: diagnóstico psiquiátrico diferencial em narcolépticos

Dream-reality confusion (DRC) is the consequence of hypnagogic content confusion with real events and memories. Narcoleptic subjects eventually have DRC and can be misdiagnosed as schizophrenic or with another disorder with delusional or hallucinatory symptoms. Although dream-related experiences and hallucinatory perception share neurophysiological pathways, they are phenomenologically distinct. The lack of phenomenological intentionality in Dreamrelated perceptions, the different cognitive pathways for delusion generation, and other differences between mental disorders psychopathology, and DRC-related phenomena are here discussed. The lived world and awake experience interpretation, and dream neurobiology in narcoleptic subjects related to DRC, might indicate some hints for the mind-brain gap issue that still exists in neurology and psychiatry.

A confusão entre realidade e sonho (CRS) é a consequência da confusão do conteúdo hipnagógico com eventos e memórias reais. Sujeitos narcolépticos eventualmente têm CRS e podem ser diagnosticados erroneamente como esquizofrênicos ou com outro transtorno com sintomas delirantes ou alucinatórios. Embora as experiências relacionadas ao sonho e à percepção alucinatória compartilhem vias neurofisiológicas, elas são fenomenologicamente distintas. A falta de intencionalidade fenomenológica nas percepções relacionadas ao sonho, as diferentes vias cognitivas para a geração do delírio e outras diferenças entre a psicopatologia dos transtornos mentais e os fenômenos relacionados à CRS são discutidos aqui. A interpretação do mundo vivido e da experiência de vigília, e a neurobiologia dos sonhos em sujeitos narcolépticos relacionados à CRS, podem indicar algumas dicas para a questão do gap mente-cérebro que ainda existe na neurologia e na psiquiatria.

Narcolepsia na infância: a atuação multidisciplinar com a psicologia do sono do diagnóstico ao tratamento em um relato de caso / Child narcolepsy: the multidisciplinary approach with sleep psychology from diagnostics to treatment in a case report / Narcolepsia en la infancia: actuación multidisciplinar con la psicología del sueño desde el diagnóstico hasta el tratamiento en un caso clínico

A narcolepsia, distúrbio neurológico crônico caracterizado pela sonolência diurna excessiva, pode ser associada à cataplexia, fragmentação do sono, alucinações relacionadas ao sono e paralisia do sono. Frequentemente, é confundida com outros transtornos, como Transtorno do Déficit de Atenção com Hiperatividade (TDAH), epilepsia e até esquizofrenia, assim, por vezes, é diagnosticada inadequadamente. Objetiva-se relatar o diagnóstico diferencial bem-sucedido da narcolepsia na infância e suas dificuldades, realizado por uma equipe multidisciplinar, enfocando a atuação da psicologia do sono em avaliação e intervenção. Um menino de 10 anos foi recebido no Ambulatório de Narcolepsia e Apneia do Sono Infantil (AMBNAP), alocado no Hospital Universitário Onofre Lopes da Universidade Federal do Rio Grande do Norte (UFRN) com queixas de sonolência diurna excessiva, sono fragmentado e episódios de perda de tônus muscular. Foi submetido a entrevistas psiquiátrica e psicológica pormenorizadas, a exames, aplicação de escalas específicas para rastreio e diagnóstico de transtornos de sono e diário de sono, solicitação de recursos de mídia e de relatório escolar e avaliação neurológica. A partir da investigação multidisciplinar, o diagnóstico foi de Narcolepsia e Síndrome da Apneia Obstrutiva do Sono (SAOS). O paciente foi submetido a técnicas da Terapia Cognitivo-Comportamental (TCC) e segue em acompanhamento, apresentando resultados satisfatórios. Este estudo evidencia que uma equipe multidisciplinar especializada na área de sono atuando em conjunto com a Psicologia do Sono oportuniza o diagnóstico e intervenções precoces eficazes para o tratamento do distúrbio do sono na infância.(AU)

Narcolepsy is a chronic neurologic disorder characterized by excessive daytime sleepiness which can be associated with cataplexy, sleep fragmentation, sleep-related hallucinations, and sleep paralysis. This sleep disorder is often confused with other disorders such as Attention Deficit Hyperactivity Disorder (ADHD), epilepsy, and even schizophrenia, and is, thus, misdiagnosed. This study aims to report the successful differential diagnosis for childhood narcolepsy carried out by a multidisciplinary team and its challenges, with a focus on the role of sleep psychology in assessment and intervention. A 10-year-old child was received at the Child Narcolepsy and Sleep Apnea Clinic (AMBNAP), located at the Onofre Lopes University Hospital of the Federal University of Rio Grande do Norte (UFRN), with complaints of hypersomnolence, fragmented sleep, and episodes of loss of muscle tone. He underwent detailed psychiatric and psychological interviews, analysis of exams, application of specific scales for screening and diagnosis of sleep disorders and sleep diary, request of media resources and school report, and neurological assessment. From the multidisciplinary investigation, excluding of other neurological diagnoses, the diagnosis was Narcolepsy and Obstructive Sleep Apnea Syndrome (OSAS). The patient was submitted to Cognitive Behavioral Therapy (CBT) techniques, such as psychoeducation, scheduled naps, cognitive therapy for dysfunctional beliefs, and sleep hygiene strategies, and continues to be followed up, with satisfactory results since the first two months of intervention. The findings presented in this study show that a multidisciplinary team specialized in the sleep area, acting alongside Sleep Psychology provides early diagnosis and interventions for the sleep disorder treatment in childhood.(AU)

La narcolepsia es un trastorno neurológico crónico caracterizado por somnolencia diurna excesiva que puede asociarse con cataplejía, fragmentación del sueño, alucinaciones relacionadas con el sueño y parálisis del sueño. El trastorno del sueño a menudo se confunde con otros trastornos como el TDAH, la epilepsia e incluso la esquizofrenia, y se diagnostica erróneamente. El objetivo es presentar el diagnóstico diferencial exitoso de la narcolepsia en la infancia y sus dificultades, realizado por un equipo multidisciplinario, con foco en el papel de la psicología del sueño en la evaluación e intervención. El estudiante de 10 años fue recibido en la Clínica de Narcolepsia Infantil y Apnea del Sueño (AMBNAP), ubicada en el Hospital Universitario Onofre Lopes de la Universidad Federal de Rio Grande do Norte, con quejas de hipersomnolencia, sueño fragmentado y episodios de pérdida de tono muscular. Se sometió a entrevistas psiquiátricas y psicológicas detalladas, análisis de exámenes, aplicación de escalas específicas para la detección y diagnóstico de trastornos del sueño y el diario del sueño, solicite recursos de medios y informe escolar y evaluación neurológica. La investigación multidisciplinaria, el diagnóstico fue Narcolepsia y SAOS. El paciente fue sometido a técnicas de terapia cognitivo-conductual (TCC), como psicoeducación, siestas programadas, terapia cognitiva por creencias disfuncionales y estrategias de higiene del sueño, y se le dio seguimiento con resultados satisfactorios. Los resultados demostraron que un equipo multidisciplinario especializado en el campo del sueño, actuando en conjunto con la psicología del sueño, proporciona el diagnóstico y las intervenciones tempranas para el trastorno del sueño de la narcolepsia en la infância.(AU)

Diagnosis and treatment of narcolepsy and parasomnias / 四川精神卫生

The purpose of this article is to discuss the clinical diagnosis and treatment of narcolepsy and parasomnias. In view of high probability and great harm of missed diagnosis and misdiagnosis of narcolepsy， as well as its close association with parasomnias， this study turns the research perspective to the clinical features of narcolepsy， the effects of rapid eye movement （REM） sleep， the comorbidity of narcolepsy and parasomnia （e.g. sleep paralysis， hypnagogic hallucination， and REM-sleep behavior disorder）， and the treatment of narcolepsy.

Progresses in clinical manifestations and treatments of narcolepsy / 中国临床药理学与治疗学

Narcolepsy is a rare disease that presents with sleep-wake disorder, which divided into narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). NT1 accounts for more than 75%, which is characterized by excessive daytime sleepiness (EDS), cataplexy attacks and nocturnal sleep symptoms (e.g. sleep paralysis, hallucinations, sleep disruptions, sleep movement disorders, etc.), accompanied by metabolic, psychiatric and emotional disturbances. The main clinical manifestation of NT2 is EDS, without cataplexy and nonspecific other symptoms of NT1. The treatments of narcolepsy mainly include the treatments of EDS and cataplexy, as well as the improvement of nocturnal sleep. This article will elaborate the advances in clinical manifestations and treatments of narcolepsy.

Health-related quality of life in patients with narcolepsy types 1 and 2 from a Sleep Center in Brazil / Qualidade de vida relacionada à saúde em pacientes com narcolepsia tipos 1 e 2 de um Centro de Sono no Brasil

ABSTRACT Introduction: Narcolepsy patients have higher prevalence of comorbidities, such as obesity, depression, and pain. Narcolepsy symptoms and concomitant medical conditions can impact the daily activities of patients. The objective of this study is to describe the quality of life in a sample of patients with narcolepsy, and the influence of the nutritional status in health domains. Methods: At Unifesp, two groups of 33 patients (narcolepsy types 1 and 2 meeting 2014 criteria, concerning hypocretin-1) and 33 controls without sleepiness, matched by age and sex, filled out the SF-36. Results: Narcolepsy groups, regardless of their nutritional status, had significantly lower scores in all domains, compared to controls, mainly in Role-physical, Role-emotional, and Energy/Fatigue. Role-physical score was lower in type 1 than in type 2 and controls (37.8±1.0 vs. 50.0±1.2 vs. 85.6±1.6; p<0.0001). Obese with type 2 narcolepsy scored lower than type 1 in physical scales. Conclusion: In a Sleep Center in São Paulo, Brazil, physical and mental health were impaired in narcolepsy types 1 and 2. The first report of the poor health status in Brazilians with narcolepsy type 2 suggests that obesity negatively affects physical domains.

RESUMO Introdução: Pacientes com narcolepsia têm maior prevalência de comorbidades, como obesidade, depressão e dor. Sintomas de narcolepsia e condições médicas concomitantes podem afetar as atividades diárias dos pacientes. O objetivo deste estudo é escrever a qualidade de vida em uma amostra de pacientes com narcolepsia e a influência do estado nutricional nos domínios de saúde. Métodos: Na Unifesp, dois grupos de 33 pacientes (narcolepsia tipos 1 e 2 compatível com os critérios de 2014, em relação a hipocretina-1) e 33 controles sem sonolência, pareados por idade e sexo, preencheram o SF-36. Resultados: Os grupos de narcolepsia, independentemente do estado nutricional, apresentaram pontuações significantemente menores em todos os domínios, comparados aos controles, principalmente nos quesitos físico, emocional e energia/fadiga. A pontuação do critério físico foi menor no tipo 1 do que no tipo 2 e nos controles (37,8±1,0 vs. 50,0±1,2 vs. 85,6±1,6; p<0,0001). Obesos com tipo 2 tiveram pontuação menor do que os com tipo 1 nas escalas físicas. Conclusão: Em um Centro de Sono de São Paulo, Brasil, as saúdes física e mental estavam comprometidas na narcolepsia tipos 1 e 2. O primeiro relato de estado de saúde ruim em brasileiros com narcolepsia tipo 2 sugere que a obesidade afeta negativamente os domínios físicos.

Unveiling sleep mysteries: neurobiology of dreaming / Revelando mistérios do sono: neurobiologia dos sonhos

Dreaming is the result of the mental activity of rapid eye movement (REM) sleep stage, and less commonly of non-REM sleep. Dreams offer unique insights into the patients' brains, minds, and emotions. Based on neurophysiological and neuroimaging studies, the biological core of dreaming stands on some brain areas activated or inactivated. Dream abnormalities in neurological disorders include a reduction / cessation of dreaming, an increase in dream frequency, changes in dream contents and accompaniments, and the occurrence of dreamlike experiences (hallucinations) mainly during the wake-sleep/sleep-wake transitions. Dream changes can be associated with several neurological conditions, and the unfolding of biological knowledge about dream experiences can also have significance in clinical practice. Regarding the dream importance in clinical neurological management, the aim of this paper encompasses a summary of sleep stages, dreams neurobiology including brain areas involved in the dreams, memory, and dreams, besides Dreams in the aging people and neurodegenerative disorders.

Sonhar é o resultado da atividade mental do estágio do sono de movimento rápido dos olhos (REM) e, menos comumente, do sono não-REM. Os sonhos oferecem informações únicas sobre o cérebro, a mente e as emoções dos pacientes. Com base em estudos neurofisiológicos e de neuroimagem, o núcleo biológico do sonho está em algumas áreas do cérebro ativadas ou inativadas. As anormalidades do sonho nos distúrbios neurológicos incluem uma redução / cessação do sonho, um aumento na frequência do sonho, alterações nos conteúdos e acompanhamentos do sonho e a ocorrência de experiências semelhantes ao sonho (alucinações), principalmente durante as transições de vigília-sono / sono-vigília. As mudanças do sonho podem estar associadas a várias condições neurológicas, e o desenvolvimento do conhecimento biológico sobre as experiências do sonho também pode ter significado na prática clínica. Com relação à importância do sonho no manejo neurológico clínico, o objetivo deste artigo é resumir os estágios do sono, a neurobiologia dos sonhos, incluindo as áreas do cérebro envolvidas nos sonhos, a memória e os sonhos, além dos sonhos nos idosos e nos distúrbios neurodegenerativos.

Lisdexamfetamine to improve excessive daytime sleepiness and weight management in narcolepsy: a case series

Objective: To report the successful use of lisdexamfetamine in the management of narcolepsy. Methods: Five narcoleptic patients received lisdexamfetamine, at different dosages and for different periods, for management of excessive daytime sleepiness and weight control. Results: All patients experienced improvement of excessive daytime sleepiness and lost weight without side effects. Conclusion: Lisdexamfetamine appears promising for the treatment of two of the most common symptoms of narcolepsy: excessive daytime sleepiness and weight gain.

Efectos adversos a nivel cardiovascular y neurológico asociados al consumo de modafinilo / Adverse effects at the cardiovascular and neurological level associated with the consumption of modafinil

Resumen Introducción: el modafinilo es un fármaco neuroestimulante utilizado principalmente para promover estados de vigilia atención y disminuir la fatiga ante ciertos comportamientos que propician la somnolencia diurna excesiva. Objetivo: identificar en la literatura científica los efectos adversos neurológicos y cardiovasculares causados por el consumo del modafinilo. Materiales y Métodos: revisión bibliográfica de los artículos encontrados entre los meses de abril y julio de 2019 en las bases de datos PUBMED, SCOPUS, DIALNET. 51 artículos superaron la evaluación de calidad metodológica y se incluyeron en la revisión. Resultados: se identificaron que los principales efectos adversos a nivel cardiovascular son la cardiomiopatía Tako-Tsubo y la taquicardia ventricular polimórfica, mientras que a nivel neurológico puede generar insomnio y distonías. Conclusiones: El consumo del modafinilo genera repercusiones en las funciones cognitivas y cardiovasculares por lo cual no es aconsejable su uso a largo plazo en personas sanas. MÉD. UIS.2020;33(1):31-8.

Abstract Introduction: modafinil is a neurostimulant drug used mainly to promote wakefulness, attention and decrease fatigue in certain behaviors that cause excessive daytime sleepiness. Objective: identify in the scientific literature the neurological and cardiovascular adverse effects caused by the consumption of modafinil. Materials and Methods: bibliographic review of the articles found between the months of April and July of 2019 in the PUBMED, SCOPUS, DIALNET databases. 51 articles passed the methodological quality assessment and were included in the review. Results: the main adverse effects at the cardiovascular level were identified as Tako-Tsubo cardiomyopathy and polymorphic ventricular tachycardia, while at the neurological level it can generate insomnia and dystonia. Conclusions: the consumption of modafinil generates repercussions on cognitive and cardiovascular functions, so its long-term use in healthy people is not advisable. MÉD.UIS.2020;33(1):31-8.

Advances in treatment of narcolepsy / 浙江大学学报·医学版

Narcolepsy is the most common cause of excessive daytime sleepiness (EDS) following obstructive sleep apnea. Its treatment aims to reduce EDS and cataplexy, improve nighttime sleep disturbance, sleep paralysis and sleep-related hallucinations. Pitolisant (a histamine H3 receptor antagonist) and solriamfetol (a norepinephrine reuptake inhibitor) have recently been approved effective for narcolepsy in the United States and the European Union. Pitolisant has proved to be effective for both EDS and cataplexy. Besides being effective on EDS, solriamfetol seems to have advantages in abuse potential and withdrawal syndrome. As potential treatments for EDS and cataplexy associated with narcolepsy, several new drugs are being developed and tested. These new drugs include new hydroxybutyrate preparations (controlled release sodium hydroxybutyrate FT218, low sodium hydroxybutyrate JZP-258), selective norepinephrine reuptake inhibitor (AXS-12), and modafinil combined with astroglial junction protein inhibitor (THN102). This paper reviews the recently approved drugs and potential treatments for narcolepsy.

Relationship between T-cell receptor α gene polymorphisms and symptomatic differences in patients with narcolepsy type 1 / 中华医学杂志(英文版)

Background@#Recent genome-wide association studies have identified an important role of T-cell receptor α (TRA) gene in the development of narcolepsy type 1. However, the role of TRA haplotype polymorphisms in the symptomatic diversity of narcolepsy remains unclear. This study aimed to investigate whether TRA polymorphisms can influence the symptomatic diversity of narcolepsy.@*Methods@#Totally, 903 patients with narcolepsy type 1 were included in the study. Patients were divided into different groups according to their symptoms. First, 13 genotyped single nucleotide polymorphisms in the TRA were assessed for their association with symptoms of narcolepsy. We used the Chi-square test to determine differences in genotype frequencies in patients with narcolepsy. Further, we identified the haplotypes and variations of the TRA and tested their association with the symptoms of narcolepsy using a logistic regression model.@*Results@#According to the results of the logistic regression, TRA haplotypes TG and CT were significantly associated with auditory hallucination, with odds ratios of 1.235 (95% confidence interval [CI], 1.012–1.507) and 1.236 (95% CI, 1.012–1.511), respectively (P < 0.05).@*Conclusions@#The patterns of haplotype in TRA (haplotypes TG and CT) are associated with hypnagogic auditory hallucination in patients with narcolepsy type 1. However, further studies are needed to confirm our results and explore the underlying mechanisms.

Independent Component Analysis and Graph Theoretical Analysis in Patients with Narcolepsy / 神经科学通报·英文版

The present study was aimed to evaluate resting-state functional connectivity and topological properties of brain networks in narcolepsy patients compared with healthy controls. Resting-state fMRI was performed in 26 adult narcolepsy patients and 30 matched healthy controls. MRI data were first analyzed by group independent component analysis, then a graph theoretical method was applied to evaluate the topological properties in the whole brain. Small-world network parameters and nodal topological properties were measured. Altered topological properties in brain areas between groups were selected as region-of-interest seeds, then the functional connectivity among these seeds was compared between groups. Partial correlation analysis was performed to evaluate the relationship between the severity of sleepiness and functional connectivity or topological properties in the narcolepsy patients. Twenty-one independent components out of 48 were obtained. Compared with healthy controls, the narcolepsy patients exhibited significantly decreased functional connectivity within the executive and salience networks, along with increased functional connectivity in the bilateral frontal lobes within the executive network. There were no differences in small-world network properties between patients and controls. The altered brain areas in nodal topological properties between groups were mainly in the inferior frontal cortex, basal ganglia, anterior cingulate, sensory cortex, supplementary motor cortex, and visual cortex. In the partial correlation analysis, nodal topological properties in the putamen, anterior cingulate, and sensory cortex as well as functional connectivity between these regions were correlated with the severity of sleepiness (sleep latency, REM sleep latency, and Epworth sleepiness score) among narcolepsy patients. Altered connectivity within the executive and salience networks was found in narcolepsy patients. Functional connection changes between the left frontal cortex and left caudate nucleus may be one of the parameters describing the severity of narcolepsy. Changes in the nodal topological properties in the left putamen and left posterior cingulate, changes in functional connectivity between the left supplementary motor area and right occipital as well as in functional connectivity between the left anterior cingulate gyrus and bilateral postcentral gyrus can be considered as a specific indicator for evaluating the severity of narcolepsy.

A four year experience in narcolepsy from a sleep clinic at a tertiary care centre with a short review of contemporary Indian literature

Narcolepsy is a common sleep disorder in Western countries but rarely reported from India. Here, we report a small case series of four narcolepsy patients seen over a four year period in the sleep clinic of a tertiary care hospital in north India. The diagnosis was established by clinical history and two or more sleep-onset rapid eye movements (SOREMs) on multiple sleep latency tests (MSLTs) following overnight polysomnography (PSG). The mean age of patients was 26.2±6.4 yr; one patient had associated cataplexy and another one had all four cardinal symptoms of narcolepsy. All these patients had a history of excessive daytime sleepiness (EDS). The mean body mass index was 24.2±4.7 kg/m[2]. The mean sleep latency during MSLT was 2.7±1.3 min, and the mean REM latency was 5.7±2.9 min. Narcolepsy, although rarely reported from India, should be suspected in young non-obese patients complaining of EDS and confirmed by performing MSLT following overnight PSG.

Episodios Ictales: Descripción de un Caso Clínico / Ictal events: a case report

Caso clínico de una paciente de once años que debuta con episodios de pérdida de tono y luego hipersomnolencia. Consulta en reiteradas ocasiones con el diagnóstico de epilepsia, con estudios electroencefalográficos y resonancia magnética cerebral, normales. Tratada durante un año con ac. valproico. Posteriormente se indica realización de Polisomnograma y Test de latencias múltiples de Sueño, confirmándose diagnóstico de narcolepsia y un trastorno del ánimo. Se inicia tratamiento con psicoestimulantes y antidepresivos. Evoluciona, con una mejoría de su cataplejía, hipersomnia y aspecto anímico. Se analiza caso, como diagnóstico diferencial de niños con episodios de pérdida de tono muscular e hipersomnolencia diurna, con conservación de conciencia y además se discute el manejo y las comorbilidades asociadas.

Summary: Case report of an eleven year old patient who debuts with hypersomnolence and episodes of muscle tone loss. She repeatedly receives a diagnosis of epilepsy, with normal EEG studies and brain MRI. She received a 12 month course of valproic acid treatment. A polysomnogram and multiple sleep latency test were subsequently performed, confirming a diagnosis of narcolepsy and a mood disorder. She begins treatment with antidepressants and psychostimulants. At follow up, she shows an improvement of her cataplexy, hypersomnia and mood disorder.We analyze this case to consider this pathology in the differential diagnosis of children with daytime hypersomnolence and episodes of muscle tone loss, with conserved awareness, as well as to discuss management and associated comorbidities.

Autonomic disturbances in narcolepsy type 1 / 中华神经科杂志

The pathogenesis of narcolepsy type 1 is characterized by massive loss of hypocretin neurons in the lateral hypothalamus.Due to the extensive interaction between the hypocretin signalling pathway and the autonomic nerve centre of brain stem and spinal cord,narcolepsy type 1 patients often showed autonomic nervous dysfunctions,such as circadian rhythms/sleep abnormalities,energy metabolism and body temperature regulation disorder,pupil adjustment disorder,sexual dysfunction and autonomic fluctuations during cataplexy.We reviewed the autonomic dysfunction of the narcolepsy type 1 patients in general and during cataplexy,in order to strengthen the attention to autonomic nervous dysfunction in narcolepsy type 1.

Parasomnia as an Initial Presentation of Narcolepsy

Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic hallucinations. Only a few studies have focused on non-rapid eye movement (NREM) and REM parasomnias in narcolepsy. We report a narcolepsy without cataplexy patient presenting parasomnia as an initial symptom. A 18-year-old boy was admitted to hospital for abnormal behavior of sitting up during sleep over 2 years. He had a symptom of lethargy without cataplexy and subjective excessive daytime sleepiness, but his family found him often asleep during daytime. He underwent 3 times of polysomnography (PSG) including 1 multiple sleep latency test (MSLT) after the last PSG. The last PSG showed 1 episode of abrupt sitting. Three sleep REM onset period was observed in MSLT which was not detect in PSG. Parasomnia as an initial symptom of narcolepsy is a rare clinical entity. The MSLT may be useful in the evaluation of patients with parasomnia and unexplained hypersomnia.