Blepharospasm is a focal dystonia that affects the orbicularis oculi muscles. The interest in nonmotor symptoms is due to their impact on quality of life. We evaluated the frequency of sleep disorders and circadian rhythm in a sample of Brazilian blepharospasm patients.
View Article and Find Full Text PDFOur study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized seizures types, intellectual disability, electroencephalogram with generalized epileptiform discharges less than 3 Hz, dysmorphisms, and genetic studies with the presence of duplicated chromosome 15. Cases reported here may be related to chromosomal changes inherited from their asymptomatic mother.
View Article and Find Full Text PDFBackground: Narcolepsy is a disease resulting from the loss of hypocretin-producing cells or other dysfunctions of the hypocretinergic system. In addition to sleep disorders, affected patients may experience increased weight gain, olfactory changes, and poorer quality of life.
Methods: This study aimed to investigate the relationship between narcolepsy and weight gain, years of study, sleep parameters, and olfactory dysfunction in patients with narcolepsy type 1 and narcolepsy type 2.
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.
View Article and Find Full Text PDFIntroduction: Narcolepsy is a sleep disorder associated with loss of hypocretin cells characterized by irrepressible need to sleep, often accompanied by cataplexy, sleep fragmentation, hypnagogical and hypnopompic hallucinations, and sleep paralysis. It is also correlated with alterations in the sleep-wake cycle, dysautonomia, olfactory dysfunction, and eating disorders.
Methods: This is a review about influence of narcolepsy on human olfaction.
Cataplexy is a transient loss of muscle tone that can be triggered by emotions such as laughter, excitement or fear. Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate).
View Article and Find Full Text PDFCurr Neurol Neurosci Rep
July 2019
Purpose Of Review: In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological mechanisms.
Recent Findings: Several pathological studies have demonstrated that the degenerative process in patients with hereditary ataxias may involve not only the cerebellum, but also other areas of the nervous system, and explain noncerebellar symptoms, such as sleep disorders. Hereditary ataxias are neurodegenerative disorders with heterogeneous genetic and clinical presentation.
Objective: To examine the semantics of chronic pain in narcolepsy and to compare with the poem Inferno, from Dante Alighieri.
Methods: A cross-sectional study, in which type 1 (n=33) and type 2 (n=33) patients (hypocretin-1 quantification in cerebrospinal fluid), were studied at Departamento de Psicobiologia - Universidade Federal de São Paulo (Brazil). We assessed pain descriptors in the Present Rating Index (PRI) from McGill Pain Questionnaire.
Narcolepsy type 1 is a sleep disorder characterized by excessive daytime sleepiness (EDS), sleep fragmentation, hypnagogic hallucinations, sleep paralysis, and cataplexy. Stimulant medications such as modafinil and amphetamines are the first-line medications for treating sleepiness. However, the management of narcolepsy during special circumstances of life such as pregnancy is complex.
View Article and Find Full Text PDFSleep apnea (SA), a condition associated with increased cardiovascular risk, has been traditionally associated with obesity and aging. However, in patients with fluid-retaining states, such as congestive heart failure and end-stage renal disease, both prevalence and severity of SA are increased. Recently, fluid shift has been recognized to play an important role in the pathophysiology of SA, since the fluid retained in the legs during the day shifts rostrally while recumbent, leading to edema of upper airways.
View Article and Find Full Text PDFBrazil is a heterogeneous country with continental dimensions. The different characteristics of cultural, socioeconomic, and demographic status of the population drive different strategies for neurological care. This knowledge helps the understanding of the current scenario with the consequent possibility of preparing for future challenges.
View Article and Find Full Text PDFObjective:: To study the quality of sleep in very elderly people with chronic pain.
Methods:: We investigated 51 very elderly people without dementia and with chronic pain according to the Geriatric Pain Measure. Katz and Lawton questionnaires were used to evaluate functionality.