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Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by a variety of neurological and systemic symptoms, including cerebellar ataxia, cataracts, tendon xanthomas, and polyneuropathy. This study aimed to investigate sleep patterns and disorders in four patients diagnosed with cerebrotendinous xanthomatosis. All participants reported significant sleep disturbances, and objective assessments confirmed the presence of insomnia, excessive daytime sleepiness, obstructive sleep apnea, and periodic limb movements. Notably, this is the first study to incorporate sleep assessments into the clinical management of CTX patients, which may be crucial for improving their quality of life. Further research is warranted to deepen our understanding of the potential impact of cholestanol deposits on regions of the central nervous system involved in sleep and circadian rhythm regulation., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

Background:  Olfactory dysfunction (OD) represents a frequent manifestation of the coronavirus disease 2019 (COVID-19). Apolipoprotein E (APOE) is a protein that interacts with the angiotensin-converting enzyme receptor, essential for viral entry into the cell. Previous publications have suggested a possible role of APOE in COVID-19 severity. As far as we know, no publications found significant associations between this disease's severity, OD, and APOE polymorphisms (E2, E3, and E4)., Objective:  To analyze the epidemiology of OD and its relationship with APOE polymorphisms in a cohort of Long-COVID patients., Methods:  We conducted a prospective cohort study with patients followed in a post-COVID neurological outpatient clinic, with OD being defined as a subjective reduction of olfactory function after infection, and persistent OD being defined when the complaint lasted more than 3 months after the COVID-19 infection resolution. This cross-sectional study is part of a large research with previously reported data focusing on the cognitive performance of our sample., Results:  The final sample comprised 221 patients, among whom 186 collected blood samples for APOE genotyping. The persistent OD group was younger and had a lower hospitalization rate during the acute phase of the disease ( p  < 0.001). Furthermore, the APOE variant E4 allele frequency was lower in this group ( p  = 0.035). This study evaluated OD in an outpatient population with COVID-19. In the current literature on this disease, anosmia is associated with better clinical outcomes and the E4 allele is associated with worse outcomes., Conclusion:  Our study provides new information to these correlations, suggesting APOE E4 as a protective factor for OD., Competing Interests: The authors have no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Background: Obstructive sleep apnoea (OSA) is a disabling health condition, and there is no disease-specific patient-reported outcome instrument to assess individuals with OSA., Objectives: To evaluate the psychometric properties of the Brazilian version of the World Health Organization Disability Assessment Schedule (WHODAS 2.0) in individuals with OSA., Methods: One hundred individuals with OSA responded to the WHODAS 2.0 version of 36 items, the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI), and the 12-item health survey (SF-12). Internal consistency, convergent and discriminative validity, and responsiveness to continuous positive airway pressure (CPAP) were the psychometric properties tested., Results: Cronbach's α values indicate good internal consistency (0.91 - 0.73), except for the self-care domain (α = 0.52). Convergent validity indicated an excellent correlation (r = -0.80) between the domains of functioning and quality of life. Discriminative validity showed no association between OSA severity and functioning (p = 0.90). The responsiveness to CPAP treatment showed a large effect size (r = 0.82; p < 0.05) CONCLUSIONS: The WHODAS 2.0 instrument is valid, reliable, and responsive for assessing individuals with OSA., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Purpose: To investigate a possible association between the risk of obstructive sleep apnoea (OSA) and disability in individuals with cardiovascular or cerebrovascular diseases., Methods: Cross-sectional study was conducted with 373 individuals (313 with cardiovascular or cerebrovascular diseases and 60 healthy). Disability was assessed by the 12-item World Health Organization Disability Assessment Schedule (WHODAS), and the risk of OSA was assessed by STOP-BANG. Anxiety and depression symptoms, daytime sleepiness, and cognition were assessed by the Hospital Anxiety and Depression Scale (HADS), Epworth Sleepiness Scale (ESS), and Mini Mental State Examination (MMSE)., Results: Greater disability was found in individuals with intermediate or high risk of OSA, considering healthy individuals (p=0.03), or individuals diagnosed with arrhythmia (p<0.01) or coronary artery disease (p=0.04). A high risk of OSA and higher WHODAS scores was significant among women as well as between OSA risk categories (p<0.01). Cognitive deficit and level of education also showed differences between OSA risk categories. Age, depression, and sleepiness were also associated with the subjects' disability (p<0.01). Gamma regression model showed higher WHODAS scores in female, in those with intermediate and high risk of OSA, and in those with depressive symptoms and cognitive deficit. Age also showed a correlation with higher WHODAS scores. The presence of all investigated cardio and cerebrovascular diseases showed an increase in the WHODAS score, implying a greater disability compared to healthy individuals., Conclusion: Moderate and high risk of OSA is associated with disability, as well as gender, age, depressive symptoms, cognitive deficit, and cardiovascular diseases., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Objective  To investigate the associations between obstructive sleep apnea (OSA) and coronavirus disease 2019 (COVID-19) severity. Methods  Twelve individuals hospitalized in a Brazilian tertiary hospital diagnosed with COVID-19 by reverse transcriptase-polymerase chain reaction (RT-PCR) underwent respiratory polygraphy. Results  Polygraphic records identified seven participants without obstructive sleep apnea (OSA) (OSA-) and five with OSA (OSA + ). The OSA+ group presented worse peripheral oxygen saturation (77.6% ± 7.89%) than the OSA- group (84.4% ± 2.57%) ( p  = 0.041). Additionally, the OSA+ group showed greater COVID-19 severity (100%) than the OSA- group (28.57%) ( p  = 0.013) and required longer oxygen therapy ( p  = 0.038), but without difference in the length of hospitalization. The OSA+ group also presented higher rates of platelets ( p  = 0.008) and D-dimer (1,443 ± 897) than the OSA- group (648 ± 263 ng/mL) ( p  = 0.019). Conclusion  Obstructive sleep apnea in individuals hospitalized due to COVID-19 was associated with higher COVID-19 severity, worse peripheral oxygen saturation, longer oxygen therapy time, and higher platelet and D-dimer rates., Competing Interests: Conflict of Interests The authors have no conflict of interests to declare., (Brazilian Sleep Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Spinocerebellar ataxias (SCAs) have a worldwide average prevalence of 2.7 cases per 100,000 individuals, with significant geographic variability. This study aimed to develop resource-limited strategies to detect and characterize the frequency and genetic-clinical profile of SCAs in an unexplored population from Alagoas State, a low Human Development Index state in northeastern Brazil. Active search strategies were employed to identify individuals with a diagnosis or clinical suspicion of SCAs, and a protocol for clinical and molecular evaluation was applied in collaboration with a reference center in Neurogenetics. A total of 73 individuals with SCAs were identified, with a minimum estimated prevalence of 2.17 cases per 100,000 inhabitants. SCA3 was the most common type (75.3%), followed by SCA7 (15.1%), SCA1 (6.8%), and SCA2 (2.7%). Patients with SCA3 subphenotype 2 were the most predominant. Detailed analysis of patients with SCA3 and SCA7 revealed age at onset and clinical features congruent with other studies, with gait disturbance and reduced visual capacity in SCA7 as the main initial manifestations. The study also identified many asymptomatic individuals at risk of developing SCAs. These findings demonstrate that simple and collaborative strategies can enhance the detection capacity of rare diseases such as SCAs in resource-limited settings and that Alagoas State has a minimum estimated prevalence of SCAs similar to the world average., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Infection with the SARS-CoV-2 virus can lead to neurological symptoms in the acute phase and in the Long COVID phase. These symptoms usually involve cognition, sleep, smell disorders, psychiatric manifestations, headache and others. This condition is more commonly described in young adults and women. This symptomatology can follow severe or mild cases of the disease. The importance of this issue resides in the high prevalence of neurological symptoms in the Long COVID phase, which entails significant morbidity in this population. In addition, such a condition is associated with high health care costs, with some estimates hovering around 3.7 trillion US dollars. In this review, we will sequentially describe the current knowledge about the most prevalent neurological symptoms in Long COVID, as well as their pathophysiology and possible biomarkers., Competing Interests: Disclosure: The authors report no conflicts of interest.

Changes in circadian rhythms have been observed in patients with chronic kidney disease (CKD), and evidence suggests that these changes can have a negative impact on health. This study aimed to investigate the existence of hemodialysis-induced chronodisruption, the chronotype distribution, and their association with sleep quality and quality of life (QoL). This was a cross-sectional study that enrolled 165 patients (mean age: 51.1 ± 12.5 y, 60.6% male) undergoing hemodialysis from three local units. The following instruments were used: the Morning-Eveningness Questionnaire (MEQ); a modified version of the Munich Chronotype Questionnaire (MCQT) to estimate hemodialysis-induced chronodisruption (HIC); the Kidney Disease QoL Short Form (KDQOL-SF); the Epworth Sleepiness Scale (ESS); the Pittsburgh Sleep Quality Index (PSQI) and the 10-Cognitive Screener (10-CS). HIC was present in 40.6% of CKD patients. Morning chronotype was prevalent in CKD patients (69%) compared to evening-type (17.1%) and significantly different from a paired sample from the general population ( p  < 0.001). HIC and chronotype were associated with different domains of QoL but not with sleep quality. This study suggests that there is a HIC and that morning chronotype is associated with CKD patients undergoing hemodialysis, with implications for QoL.

REM sleep behavior disorder (RBD) is characterized by a loss of atonia of skeletal muscles during REM sleep, associated with acting out behaviors during dreams. Knowledge of this pathology is important to predict neurodegenerative diseases since there is a strong association of RBD with diseases caused by the deposition of alpha-synuclein in neurons (synucleinopathies), such as Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB). Proper diagnosis of this condition will enable the use of future neuroprotective strategies before motor and cognitive symptoms. Diagnostic assessment should begin with a detailed clinical history with the patient and bed partner or roommate and the examination of any recorded home videos. Polysomnography (PSG) is necessary to verify the loss of sleep atonia and, when documented, the behaviors during sleep. Technical recommendations for PSG acquisition and analysis are defined in the AASM Manual for the scoring of sleep and associated events, and the PSG report should describe the percentage of REM sleep epochs that meet the criteria for RWA (REM without atonia) to better distinguish patients with and without RBD. Additionally, PSG helps rule out conditions that may mimic RBD, such as obstructive sleep apnea, non-REM sleep parasomnias, nocturnal epileptic seizures, periodic limb movements, and psychiatric disorders. Treatment of RBD involves guidance on protecting the environment and avoiding injuries to the patient and bed partner/roommate. Use of medications are also reviewed in the article. The development of neuroprotective medications will be crucial for future RBD therapy., Competing Interests: The authors have no conflict of interest., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Anti-NMDA receptor encephalitis (NMDARE), an autoimmune encephalitis associated with autoantibodies against the N-methyl-D-aspartate (NMDA) receptor, affects predominantly young women and is associated with psychiatric symptoms, seizures, movement disorders, and autonomic instability. Traditional treatments of anti-NMDA receptor encephalitis involve corticosteroids, intravenous immunoglobulin, plasmapheresis, cyclophosphamide, and rituximab. However, many controversies remain in the treatment for NMDA receptor encephalitis, such as optimal timing and combination of different immunotherapies, the role of newer strategies (e.g., bortezomib or tocilizumab) for severe and refractory patients, and the need or not for long-term immunosuppression. Our goal was to perform a scoping review to discuss the controversial topics of immunotherapy for NMDA receptor encephalitis and propose operational definitions to guide clinical practice and future research in the field., (© 2023. Fondazione Società Italiana di Neurologia.)

Chronic insomnia disorder (simplified in this document as insomnia) is an increasingly common clinical condition in society and a frequent complaint at the offices of different areas of health practice (particularly Medicine and Psychology). This scenario has been accompanied by a significant evolution in treatment, as well as challenges in approaching patients in an appropriately way. This clinical guideline, coordinated by the Brazilian Sleep Association and the Brazilian Association of Sleep Medicine and counting on the active participation of various specialists in the area, encompasses an update on the diagnosis and treatment of insomnia in adults. To this end, it followed a structured methodology. Topics of interest related to diagnosis were written based on theoretical framework, evidence in the literature, and professional experience. As for the topics related to the treatment of insomnia, a series of questions were developed based on the PICO acronym (P - Patient, problem, or population; I - Intervention; C - Comparison, control, or comparator; O - Outcome). The work groups defined the eligible options within each of these parameters. Regarding pharmacological interventions, only the ones currently available in Brazil or possibly becoming available in the upcoming years were considered eligible. Systematic reviews were conducted to help prepare the texts and define the level of evidence for each intervention. The final result is an objective and practical document providing recommendations with the best scientific support available to professionals involved in the management of insomnia., Competing Interests: Conflict of interest Luciano F. Drager Lectures: Biolab, EMS, Eurofarma, ResMed, and Takeda. Educational material: EMS and Eurofarma. Scientific consultancy: ResMed. Participation in scientific study: ResMed (real-world studies). Marcia Assis Educational material: EMS, Eurofarma, Mantecorp, Takeda, and Apsen. Andrea Bacelar Lectures: Eurofarma, Sanofi-Medley, EMS, Apsen, Aché, Resmed, Sandoz, Biolab, Torrent, Momenta. Dalva Poyares Lectures: Takeda, Teva, Libbs, Eurofarma, and Resmed. Scientific consultancy: Biolab. Participation in scientific study: Aché (lead researcher). Silvia Conway No conflict of interest. Gabriel Natan Pires Partner at SleepUp. Alexandre Azevedo Lectures: Eurofarma. Educational material: Eurofarma, Momenta, Abbot. Alicia Carissimi No conflict of interest. Allan Eckeli Lectures: Apsen and Eurofarma. Álvaro Pentagna No conflict of interest. Carlos Maurício Almeida Lectures: Libbs, EMS, and Tegra Pharma. Clélia Franco Lectures: Teva. Emmanuelle Silva Tavares Sobreira No conflict of interest. Fernando Stelzer No conflict of interest. Giuliana Macedo No conflict of interest. Gisele Minhoto Lectures: Eurofarma, Takeda, Genon, Hypera, Mantecorp. Educational material: Apsen, Biolab, Eurofarma, Takeda. Sponsorship to participate in conferences: Lundbeck. Ila Linhares No conflict of interest. Ksdy Sousa No conflict of interest. Livia Gitai No conflict of interest. Lucia Sukys-Claudino No conflict of interest. Manoel Sobreira No conflict of interest. Marcio Zanini Lectures: Lundbeck. Educational material: Lundbeck and Supera Advisory board: SleepUp. Regina Margis Lectures: Apsen, Sanofi, and Eurofarma. Sandra Martinez No conflict of interest., (Brazilian Sleep Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

APOE ε4 polymorphism has been recently described as a possible association with cognitive deficits in COVID-19 patients. This research aimed to establish the correlation between COVID-19 and cognitive impairment, and the APOE gene polymorphism among outpatients. We performed a cross-sectional study with confirmed COVID-19 patients and neurological symptoms that persisted for more than three months from onset. APOE genotypes were determined. The final number of patients included in this study was 219, of which 186 blood samples were collected for APOE genotyping, evaluated 4.5 months after COVID-19. Among the participants, 143 patients (65.3%) reported memory impairment symptoms as their primary concern. However, this complaint was objectively verified through screening tests (Addenbrooke Cognitive Examination-Revised and Mini-Mental State Examination) in only 36 patients (16.4%). The group experiencing cognitive decline exhibited a higher prevalence of the APOE ε4 allele than the normal group (30.8% vs. 16.4%, respectively, p = 0.038). Furthermore, the APOE ε4 allele and anxiety symptoms remained significant after multivariate analysis. This study assessed an outpatient population where cognitive changes were the primary complaint, even in mild cases. Moreover, the ε4 allele, sleep disorders, and anxiety symptoms were more frequent in the cognitive decline group.

Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common SCA worldwide and comprises about 70% of SCA patients in Brazil. Magnetic resonance imaging (MRI) sequences have been used to describe microstructural abnormalities in many neurodegenerative diseases and helped to reveal the excessive iron accumulation in many of these conditions. This study aimed to characterize brain changes in gray matter (GM) and white matter (WM), detected by voxel-based morphometry (VBM) and relaxometry in patients with SCA3/MJD. A group of consecutive individuals, older than 18 years of age, with symptomatic and genetically proven SCA3/MJD diagnosed, and a control group, were submitted to clinical evaluation and MRI. The images were analyzed using VBM technique and relaxometry. The global assessment of brain volume by region of interest showed a significant difference in GM between SCA3/MJD and normal controls. VBM was used to locate these volumetric changes and it revealed a noticeable difference in the GM of the cerebellum and the brainstem. The global assessment of the brain by relaxometry also showed a significant difference in the comparison of GM between SCA3/MJD and normal controls, detecting noticeable prolongation of T2 time in the medulla oblongata (p < 0.001) and in the pontine tegmentum (p = 0.009) in SCA3/MJD compared to control group. Our study suggests that SCA3/MJD affects the macrostructure of the cerebellum and brainstem and microstructure of pons and medulla oblongata GM, as already demonstrated in the pathological study., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: To analyse the psychometric properties of the translated and cross-culturally adapted version of the OSAKA (Obstructive Sleep Apnea Knowledge and Attitudes) questionnaire in the Brazilian Portuguese language., Methods: The OSAKA instrument was translated by two independent translators, and the back-translated conciliated version was presented and approved by Washington University, which holds the intellectual property for the OSAKA questionnaire. Physicians from different specialties electronically completed the OSAKA instrument and the ASKME (Assessment of Sleep Knowledge in Medical Education) questionnaire, which was used as an auxiliary instrument to analyse the construct validity., Results: The questionnaire was tested with 176 physicians. The items from the knowledge and attitudes domains presented acceptable internal consistency values, with McDonald's omega coefficients (Ω) of 0.70 and 0.73, respectively. The OSAKA questionnaire showed a moderate correlation with the ASKME instrument (r = 0.60, p < 0.001) and excellent retest reliability, with an intraclass correlation coefficient of 0.81. There were differences in knowledge between the medical specialties (p < 0.001). Regarding attitudes, most respondents considered obstructive sleep apnoea and its diagnosis to be important and felt confident in identifying it, but the same majority did not feel confident in treating the disease., Conclusion: The OSAKA instrument, as a translated and cross-culturally adapted Brazilian Portuguese version, presented psychometric properties with adequate reliability and validity., (© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Background: Anti-NMDAR encephalitis is an emerging differential diagnosis of first episode and persistent psychosis in the psychiatric community, as clinical manifestations include psychiatric symptoms, cognitive dysfunction, seizures, decreased consciousness, and dyskinesias. This disease is associated with extreme delta brush (EDB), but the significance and temporal course of this EEG pattern still needs to be determined. Herein, we report a case of anti-NMDAR encephalitis with persistent psychosis associated with EDB occurrence on multiple occasions during a 5-year disease course., Case Presentation: A 15-year-old girl was diagnosed with anti-NMDAR encephalitis and treated with progressive improvement. Four years after initial manifestations, an EDB pattern was seen on electroencephalogram (EEG) without new neurological symptoms. She had residual symptoms of episodic auditory hallucinations and impulsivity. One year later, the patient had a recurrence of neurological symptoms (seizures, dyskinesias and impaired attention), persisting with EDB on EEG. Clinical symptoms and EDB resolved after second-line treatment with rituximab., Conclusion: We describe the first case of persistent psychosis in anti-NMDAR encephalitis associated with extreme delta brush on multiple EEGs on prolonged follow-up. Electroencephalographic patterns such as EDB may serve as markers of residual disease activity, including psychiatric symptoms. Further studies with prolonged EEG monitoring are needed to better understand these findings., (© 2023. The Author(s).)

Background: Cannabidiol (CBD) is one of the main nonpsychoactive components of Cannabis sativa and may represent an alternative treatment for Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) in patients with Parkinson's disease (PD) and REM (Rapid Eye Movement) sleep behavior disorder (RBD). Objective: Our purpose was a post hoc exploratory analysis to evaluate the CBD's efficacy to improve the severity of RLS/WED symptoms in patients with PD and RBD. Methods: A post hoc exploratory analysis of a phase II/III, a parallel, double-blind, placebo-controlled clinical trial was conducted in 18 patients with RLS/WED and PD plus RBD associated. Six patients were randomized to the CBD group in doses of 75-300 mg, and twelve received placebo capsules. They were followed up for 14 weeks. The primary outcome was the severity of RLS/WED by Restless Legs Syndrome Rating Scale of the International Restless Legs Syndrome Study Group (IRLSSG). Results: CBD showed no difference in relationship to placebo for primary and secondary outcomes. Conclusion: CBD showed no reduction in the severity of RLS/WED manifestation in patients with PD and RBD.

Introduction: Long-onset COVID syndrome has been described in patients with COVID-19 infection with persistence of symptoms or development of sequelae beyond 4 weeks after the onset of acute symptoms, a medium- and long-term consequence of COVID-19. This syndrome can affect up to 32% of affected individuals, with symptoms of fatigue, dyspnea, chest pain, cognitive disorders, insomnia, and psychiatric disorders. The present study aimed to characterize and evaluate the prevalence of sleep symptoms in patients with long COVID syndrome., Methodology: A total of 207 patients with post-COVID symptoms were evaluated through clinical evaluation with a neurologist and specific exams in the subgroup complaining of excessive sleepiness., Results: Among 189 patients included in the long COVID sample, 48 (25.3%) had sleep-related symptoms. Insomnia was reported by 42 patients (22.2%), and excessive sleepiness (ES) was reported by 6 patients (3.17%). Four patients with ES were evaluated with polysomnography and test, multiple sleep latencies test, and actigraphic data. Two patients had a diagnosis of central hypersomnia, and one had narcolepsy. A history of steroid use was related to sleep complaints (insomnia and excessive sleepiness), whereas depression was related to excessive sleepiness. We observed a high prevalence of cognitive complaints in these patients., Conclusion: Complaints related to sleep, such as insomnia and excessive sleepiness, seem to be part of the clinical post-acute syndrome (long COVID syndrome), composing part of its clinical spectrum, relating to some clinical data., (© 2022. The Author(s).)

Background: Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating disorders. There are few case series and no large randomized controlled trials, and most reports come from developed countries. We report six cases of SS in three centers in Brazil and discuss management challenges in emergent countries., Methods: This is a retrospective case series of patients diagnosed with SS in three medical centers in Brazil between April 2018 and July 2021. The European Susac consortium (EuSaC) criteria were used for diagnosis of SS. Demographic data and clinical interventions were described and outcomes were assessed subjectively and by applying the modified Rankin Scale (mRS) on last follow-up., Results: Six patients were diagnosed with SS (3 males, 3 females). Mean age at presentation was 36 years (range 17 to 54). The most common initial symptom was confusion, followed by visual impairment and hearing loss. Characteristic snowball lesions on magnetic resonance imaging (MRI) were present in four patients (66%). Retinal artery abnormalities were present in half (3/6) of patients, and sensorineural hearing loss was present in four patients (66%). Outcome was favorable (mRS ≤ 2) in five patients (86%). Patients treated early had a more favorable outcome., Conclusion: Emergent countries face challenges in the diagnosis and management of patients with SS, such as access to advanced tests (fluorescein angiography, serial MRI) and treatment drugs (rituximab, mycophenolate). Further research should consider particularities of patients with SS in emergent countries., (© 2022. Fondazione Società Italiana di Neurologia.)

Background: Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves' disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of Moyamoya syndrome in a patient with a previous diagnosis of TS and GD who tested positive for SCA2 and had imaging findings compatible with an overlap of SCA2 and Moyamoya., Case Presentation: A 43-year-old woman presented with mild gait imbalance for 2 years. Her family history was positive for type 2 spinocerebellar ataxia (SCA2). She had been diagnosed with Turner Syndrome (45,X) and Graves disease three years before. Brain MRI revealed bilateral frontal and parietal cystic encephalomalacia in watershed zones, atrophy of pons, middle cerebellar peduncles and cerebellum. MR angiography showed progressive stenosis of both internal carotid arteries with lenticulostriate collaterals, suggestive of Moya-Moya disease. Molecular analysis confirmed the diagnosis of SCA2., Conclusions: With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing., (© 2022. The Author(s).)

Background: Telemedicine allows Parkinson disease (PD) patients to overcome physical barriers to access health care services and increases accessibility for people with mobility impairments., Objective: To investigate the feasibility indicators of a telehealth intervention for PD patients, including patient recruitment, attendance, technical issues, satisfaction, and benefits on levels of physical activity and sleep., Methods: We conducted a single-center, single-arm study of telehealth video consultations using WhatsApp (Meta Platforms, Inc., Menlo Park, CA, USA). Also, we collected the feasibility indicators as the primary endpoints. All the patients in the study were previously evaluated in person by the same team., Results: Patient recruitment, attendance, and technical issues rates were 61.3%, 90.5%, and 13.3%, respectively, with good scores of patient acceptance and satisfaction with the study intervention. The telehealth intervention improved physical activity, including the number of walks for at least 10 continuous minutes ( p  = 0.009) and the number of moderate-intensity activities lasting at least 10 continuous minutes ( p  = 0.001). The Pittsburgh sleep quality index (PSQI) scores also improved for one of its components: perceived sleep duration ( p  < 0.001) and for total Pittsburgh score ( p  < 0,001). The average travel time saving was 289.6 minutes, and money-saving was R$106.67 (around USD 18; almost 10% of the current minimum wage in Brazil)., Conclusions: Direct-to-patient telehealth video consultations proved to be feasible and effective and had a positive impact on physical activity levels and sleep in PD patients., Competing Interests: The authors have no conflict of interests to declare., (Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)

Introduction: Few studies have objectively evaluated cognitive deficits after the acute phase of COVID-19 disease. Moreover, the role of apolipoprotein E (APOE) genotypes in cognitive decline in patients with COVID-19 has not been evaluated yet., Methods: This cross-sectional study was conducted in confirmed cases of COVID-19 patients with neurological symptoms that persisted for more than 3 months from the onset. We determined APOE genotypes., Results: The final sample consisted of 141 patients. The most frequent APOE genotype was E3/E3 ( N = 95; 67.3%). In total, 93 patients (65.9%) had memory impairment symptoms as the main complaint, objectively confirmed through screening tests in 25 patients (17.7%). Patients with cognitive impairment had a lower frequency of anosmia than the normal and subjective cognitive decline (SCD) groups ( p = 0.005). In addition, depression was recurrent in the cognitive impairment group and the SCD group ( p = 0.046). Cognitive impairment was significantly more frequent in hospitalized patients and those with a lower education level. Cognitive status was not associated with APOE genotypes., Discussion: Hospitalized patients had more severe infection with a greater possibility of systemic complications, greater inflammatory response, and prolonged hospitalization, which could impact cognitive performance. Cognitive impairment in patients with COVID-19 does not necessarily involve specific APOE polymorphisms. However, psychiatric disorders may also be responsible for cognitive complaints. Cognitive complaints are frequent in patients with COVID-19, even after the acute phase of the disease and in mild cases. Hospitalized participants and depressed patients may have a higher risk of cognitive impairment. APOE genotypes or haplotypes may not significantly play a role in COVID-19 cognitive impairment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Tavares-Júnior, Oliveira, da Silva, Feitosa, Sousa, Cunha, Gaspar, Gomes, de Oliveira, Moreira-Nunes, Montenegro, Sobreira-Neto and Braga-Neto.)

Introduction: COVID-19 has a wide range of clinical manifestations. Neurological manifestations in COVID-19 patients were demonstrated during the pandemic, including cognitive impairment. This study aimed to determine any relationship between COVID-19 and cognitive complaints, such as dementia, mild cognitive impairment (MCI), or subjective cognitive decline (SCD)., Methods: We performed a systematic review of MEDLINE via Ebsco, Cochrane EMBASE, SCOPUS, and LILACS electronic databases of observational studies with COVID-19 patients confirmed by serology or PCR who developed new cognitive impairment or deteriorated from previous cognitive impairment after infection. This review protocol was recorded on PROSPERO with registration number CRD 42021241590., Results: A total of 3.520 articles were retrieved and read. Twenty-two studies were selected for our review. A wide range of cognitive assessment tools (n = 25) was used. The most described affected domains in these studies were executive functions, attention, and episodic memory. Thirteen studies showed a pattern of cognitive impairment in processing speed, inattention, or executive dysfunction assessed through working memory., Conclusion: This review highlights the high frequency of cognitive impairment after COVID-19 infection. However, we were unable to differentiate whether the cognitive impairment found corresponded to mild cognitive impairment or dementia through data from selected studies, and this issue serves as one objective of future studies to be addressed on this topic., Competing Interests: Declaration of competing interest One of the authors (Pedro Braga Neto) received funding from the Brazilian National Council for Scientific and Technological Development (CNPq) as research grant funding and from the Brazilian Funding Grant Number 88881.505364/2020-01 from Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES). José Wagner Leonel Tavares Júnior, Ana Célia Caetano de Souza, José Wicto Pereira Borges, Danilo Nunes Oliveira, José Ibiapina Siqueira Neto, Manoel Alves Sobreira Neto declare that they have no conflict of interest., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

The prevalence of Parkinson's disease (PD) tends to increase worldwide in the coming decades. Thus, the incidence of falls is likely to increase, with a relevant burden on the health care system., Objective: The objective of this study was to evaluate clinical factors and drug use associated with falls in PD patients., Methods: We conducted a cross-sectional study at the Movement Disorders outpatient clinic of a tertiary hospital in Northeast Brazil. We performed structured interviews to collect sociodemographic and clinical data. Functional capacity was assessed using the Schwab and England Activities of Daily Living Scale and the modified Hoehn and Yahr Staging Scale. We divided the study sample into non-fallers (no falls) and fallers (≥1 fall), and non-recurrent (≤1 fall) and recurrent fallers (>1 fall)., Results: The study population comprised 327 PD patients (48% women), with a mean age of 70 years. The mean disease duration was 9.9±6.9 years. The most prevalent comorbidities were depression (47.2%), hypertension (44.0%), and type 2 diabetes mellitus (21.5%). The logistic regression analysis revealed that hallucinations, amantadine, and catechol- O -methyltransferase inhibitors (entacapone) were independently associated with falls in PD patients. Also, hallucinations, dyskinesia, and the use of amantadine were independently associated with recurrent falls., Conclusions: Health care providers play an essential role in fall prevention in PD patients, particularly by identifying older adults experiencing dyskinesia and visual hallucinations. Prospective studies should investigate the use of amantadine as a risk factor for falls in PD patients., Competing Interests: Disclosure: The authors report no conflict of interest.

Background: COVID-19 is a pandemic disease responsible for many deaths worldwide. Many neurological manifestations have been described. We report a case of normal pressure hydrocephalus (NPH) 2 months after acute COVID19 infection, in a patient without other risk factors., Case Presentation: A 45-year-old male patient presented an 8-month history of progressive gait disorder and cognitive impairment after being hospitalized for SARS-CoV-2 infection. Magnetic resonance imaging (MRI) was compatible with NPH. A spinal tap test was positive and there was progressive improvement after shunting, with complete resolution of symptoms., Conclusion: Other infections such as syphilis, cryptococcosis and Lyme disease have been associated with NPH. Possible mechanisms for NPH after COVID include disruption of choroid plexus cells by direct viral invasion or as a result of neuroinflammation and cytokine release and hypercoagulability leading to venous congestion and abnormalities of CSF flow. Given the significance of NPH as a cause of reversible dementia, it is important to consider the possibility of a causal association with COVID19 and understand the mechanisms behind this association., (© 2022. The Author(s).)

SARS-COV-2 infection has affected millions of individuals with a wide range of clinical manifestations, including central and peripheral nervous systems through several mechanisms. A rare but potentially severe manifestation of this virus is transverse myelitis. Herein, we report on two patients who developed paraparesis, sensory deficit, and autonomic changes on the tenth day after infection by COVID-19. A 27-year-old man, previously healthy, had symptoms of COVID-19 confirmed by oropharyngeal and nasopharyngeal swab tests. On the tenth day of symptoms, the patient started to experience acute paraparesis, urinary retention, constipation, and hypoesthesia up to the T4 level. The second patient is a 50-year-old man, previously healthy, who had symptoms of the flu-like syndrome. The diagnosis of COVID-19 infection was confirmed by oropharyngeal and nasopharyngeal swab tests. On the tenth day of symptoms, the patient started to experience paraparesis, urinary incontinence, and hypoesthesia up to the T6 level. The neuroimaging and cerebrospinal fluid (CSF) analysis of both patients confirmed acute transverse myelitis after COVID-19 infection. High-dose corticosteroid therapy was started, and both patients showed rapid recovery from their deficits. Although rare, post-infectious transverse myelitis may be related to SARS-COV-2 infection and should be quickly recognized. Although controlled studies are needed, treatment with corticosteroid therapy in high doses was effective in these patients., (© 2021. Journal of NeuroVirology, Inc.)

Neurological symptoms in COVID-19 patients can also be found in the pediatric population, but they are usually described as mild symptoms. Herein, we described a case series of four pediatric patients with severe and highly heterogeneous central and peripheral nervous system manifestations. The objective was to report neurological manifestations of COVID-19 in children and adolescents. The design is case series. The participants are four children and adolescents with confirmed COVID-19. The main outcome and measures are as follows: Clinical data were gathered from electronic medical records, and data of all neurologic symptoms were checked by a trained neurologist. We reported four pediatric patients with COVID-19 and different neurologic symptoms. Case 1 was a 16-year-old girl with a sensory and motor polyradiculopathy with RT-qPCR for COVID-19 and dengue both detected in CSF that improved after appropriate treatment. Case 2 was a 15-year-old boy with Guillain-Barre syndrome and had good response after using human immunoglobulin. Case 3 was a 5-year-old girl with acute intracranial hypertension that improved after going through lumbar puncture and using acetazolamide. Case 4 was a 2-month-old male infant with focal epileptic seizures that recovered after antiepileptic treatment. We highlight the need to consider different neurologic manifestations as part of the COVID-19 clinical spectrum., (© 2021. Journal of NeuroVirology, Inc.)

Headache is the most common neurological symptom in COVID-19, reported in 6.5 to 34% of patients. Few studies have analyzed its characteristics, and some of them included cases without laboratory confirmation or reported only critical patients. We aimed to analyze the clinical characteristics of COVID-19 associated headache in laboratory-confirmed cases. We conducted a retrospective evaluation of patients with COVID-19 and neurological symptoms. Patients who reported headache answered an interview about its clinical characteristics. Twenty-four patients with COVID-19 associated headache completed the interview. Mean age of patients was 53.8 (standard deviation-17.44), and 14 out of 24 (58.3%) were male. The majority (75%) had no previous history of headache. Fever was documented in 19 out of the 24 patients (79.1%). Headache was predominantly bifrontal or holocranial, in pressure, during hours, worsening with cough or physical activity. COVID-19 headache tends to appear in the first days of symptoms, be either frontal or holocranial and last for days. The quality of pain in pressure and the worsening with cough or physical activity were reported in most cases. We have not found any characteristic that could differentiate COVID-19 associated headache from other causes of headache, possibly because of its multifactorial mechanism., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: Obstructive Sleep Apnea (OSA) is related to cardiovascular, metabolic, and neurocognitive diseases. Furthermore, OSA symptoms, such as excessive sleepiness, fatigue, and mood disorders, may interfere in functioning. The assessment of this aspect in patients with OSA is not frequent and no specific instrument is available in the literature. Our aim is to identify if the International Classification of Functioning, Disability and Health (ICF) domains are considered in the validated instruments used to assess patients with OSA., Methods: In this integrative literature review, three databases were searched: Pubmed, Embase, and LILACS. Bibliographic survey was carried out in 2020, between March and July. Articles published in English, Portuguese, and Spanish with validated tools to assess OSA in adults were included., Results: Thirty instruments have undergone a process of concept extraction and coding according to the ICF, generating a total of 769 significant concepts. It was observed that the function domain was the most prevalent, making 42% (n = 323) of the concepts, followed by domains of activity (16%), participation (10%), environmental factors (5%), personal factor (5%), and structure (1%). Only one instrument, the "Sleep Apnea Quality of Life Index (SAQLI)," encompasses all domains of the ICF in its constructs., Conclusion: In the analyzed instruments, the function domain prevails, with most concepts related to sleep functions. Only one validated instrument included in this research covered all the ICF domains. This instrument closely matched the recommended way of assessing functioning, though it approached the domains in an unbalanced way.

There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.

Background: Restless legs syndrome or Willis-Ekbom disease is a disorder characterized by unpleasant sensations associated with the need to mobilize the lower limbs. In Parkinson disease patients, restless legs syndrome is associated with worse quality of life and excessive sleepiness. Regarding other factors, results of different studies are controversial., Objective: To determine the factors associated with the restless legs syndrome presence in Parkinson disease patients., Methods: A cross-sectional study was conducted in 88 consecutive Parkinson disease patients from the outpatient clinic for 21 months. Participants underwent a clinical interview, assessment based on standardized scales (Epworth Sleepiness Scale, Parkinson Disease Questionnaire - 39, Pittsburgh Sleep Quality Index, International Restless Legs Syndrome Study Group rating scale), and video-polysomnography., Results: Out of the 88 participants, 25 had restless legs syndrome. In the multivariate analysis, restless legs syndrome in Parkinson disease has been associated with the symptom of smell loss and quality of sleep and life. In the univariate analysis, restless legs syndrome in Parkinson disease has occurred more frequently in women with higher frequency of insomnia, constipation, and anosmia than in the group without restless legs syndrome., Conclusion: Restless legs syndrome is a prevalent condition in patients with Parkinson disease and is associated with specific characteristics in this group of patients.

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder in Brazil. Physical activity is a complementary intervention in managing inherent declines associated with the disease like strength, balance, gait, and functionality and benefit health-related outcomes. Here, we report the PARK-BAND Study protocol, which aims to investigate potential benefits of power training using elastic devices in participants with PD. Our intervention will be provided in patients with PD using elastic devices like elastic bands and tubes. Therefore, we used the term Park from Parkinson's disease and band from elastic bands., Methods and Analysis: This randomised single-blind single-centre two-arm parallel, superiority trial will include 50 participants with PD attending the clinical setting. Those who meet the eligibility criteria and provide consent to participate will be randomised in a 1:1 ratio to either the exercise group, which will receive power training programme or the health education group, which will receive the education programme. Randomisation will be performed by permuted block randomisation with a block size of eight. Both groups will receive a 12-week intervention. The exercise group will have two sessions per week and the health education group will have one session per week. Changes from baseline in bradykinesia, as assessed by the Unified Parkinson's Disease Rating Scale motor examination subscore and physical functional performance, will be the primary outcomes. Secondary outcomes include other neurological, neurophysiological and physical variables, as well as the quality of life, depression, cognition, sleep quality and disturbances, assessed before and after interventions. We hypothesise that the exercise group will have greater improvement in primary and secondary outcomes than the health education group., Ethics and Dissemination: The study is approved by the Research Ethics Committee of Hospital Universitário Walter Cantidio and all participants will provide their written informed consent (register number 91075318.1.0000.5045).Trial results will be disseminated via peer reviewed journal articles and conference presentations, reports for organisations involved with PD and for participants., Trial Registration Number: Registro Brasileiro de Ensaios Clínicos Registry (RBR-5w2sqt); Pre-results., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Brazil experienced a disproportionately higher rate of microcephaly cases in November 2015 with evidence of a causal link with Zika virus (ZIKV) infections during pregnancy. Epilepsy is a major neurological feature seen as part of congenital Zika virus syndrome (CZVS). Different seizure types and electroencephalographic (EEG) abnormalities have been described in association with this syndrome. However, clinical and neurophysiological features of epilepsy seen in children with CZVS are not fully understood., Methods: We evaluated children with CZVS showing an EEG pattern of electrical status epilepticus during slow-wave sleep (ESES). Information on gender, age of onset of seizures, head circumference at birth, gross motor function at the time of diagnosis, of clinical and EEG aspects of seizures, EEG features and response to drug treatment was assessed., Results: Our case series included four patients. They were diagnosed with epilepsy between one month to 18 months of age and showed an ESES pattern at the age of three. They presented with a wide range of epileptic symptoms, but all experienced tonic seizures. Multiple drug treatment was the management approach for three patients; however, they showed poor response to treatment with conventional drugs used in the treatment of ESES., Conclusions: Children with CZVS may develop an EEG pattern of ESES. Clinicians and neurologists should be aware of this neurological presentation to improve the management of these patients., (Copyright © 2020 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.

Introduction: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful., Objective: To validate the Brazilian Portuguese version of RBD screening questionnaire (RBDSQ) for patients with Parkinson's disease (PD)., Methods: Using detailed clinical interviews and PSG analysis (diagnostic gold standard), a convenience sample of 69 subjects was divided into the following subgroups: patients with PD and RBD (PD+RBD; n=50) and patients with PD alone (PD-RBD; n=19)., Results: RBDSQ-BR showed adequate internal consistency (Cronbach's α=0.809) and, except for item 8, adequate item-test correlation. The retest performed in a second sample (n=13, consecutive) showed high agreement for total score (intraclass correlation coefficient, ICC=0.863) and acceptable agreement for items 2, 3, 6.2, 6.3, 7, and 8 (K>0.60). The receiver operating characteristic (ROC) curve analysis had an area under the curve (AUC) of 0.728. A cut-off score of 4 enabled the correct diagnosis of 76.8% subjects and provided the best balance between sensitivity (84%) and specificity (57.9%), with a 2.0 likelihood ratio of a positive result (LR+) and a 0.3 likelihood ratio of a negative result (LR-). Items 2 and 6.2 had 84.2% specificity and 3.2 LR+. Combined items 1+2+6.2, 2+6.1, and 6.1+6.2 increased the specificity to 94.7%, with LR+ ranging from 6.1 to 7.6., Conclusions: RBDSQ-BR is a reliable instrument, which may be useful for RBD diagnosis of Brazilian patients with PD. The instrument is also valid and may help in a better selection of cases for a more detailed clinical evaluation or even PSG analysis.

Background: Sarcopenia is a complex and multifactorial geriatric condition seen in several chronic degenerative diseases. This study aimed to screen for sarcopenia and fall risk in a sample of Parkinson's disease (PD) patients and to investigate demographic and clinical factors associated., Methods: This is a cross-sectional study. We evaluated 218 PD patients at the Movement Disorders Clinic in Fortaleza, Brazil, and collected clinical data including experiencing falls in the six months prior to their medical visit. Probable sarcopenia diagnosis was confirmed by using a sarcopenia screening tool (SARC-F questionnaire) and the presence of low muscle strength., Results: One hundred and twenty-one patients (55.5%) were screened positive for sarcopenia using the SARC-F and 103 (47.4%) met the criteria for probable sarcopenia. Disease duration, modified Hoehn and Yahr stage, Schwab and England Activities of Daily Living Scale score, levodopa equivalent dose, probable sarcopenia and positive SARC-F screening were all associated with experiencing falls. Disease duration, lower quality of life and female gender were independently associated with sarcopenia. Experiencing falls was significantly more frequent among patients screened positive in the SARC-F compared to those screened negative., Conclusions: Sarcopenia and PD share common pathways and may affect each other's prognosis and patients' quality of life. Since sarcopenia is associated with lower quality of life and increased risk of falls, active case finding, diagnosis and proper management of sarcopenia in PD patients is essential., Competing Interests: The authors have declared that no competing interests exist.

Background: Insomnia complaints are frequent in Parkinson disease (PD), affecting up to 55% of patients. Factors related to insomnia in PD are multifactorial and may be associated with the degenerative process of the disease, comorbidities related to aging, and medication use. The aim of this study is to determine the factors associated with the presence of chronic insomnia in patients with PD., Method: A cross-sectional study was performed involving 63 consecutive patients with PD from an outpatient clinic. Participants underwent clinical interviews with neurologists and a psychiatrist and were assessed with standardized scales (Epworth Sleepiness Scale, Parkinson's Disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of restless legs syndrome(RLS)/Willis-Ekbom disease (WED), the International RLS/WED grading scale) and video-polysomnography., Results: The main factors associated with chronic insomnia in PD were the habit of staying in bed without sleeping, large rapid eye movement (REM) sleep latency, high Pittsburgh Sleep Quality Index scores, and absence of obstructive sleep apnea (OSA)., Conclusion: Insomnia in PD is related to specific factors including inadequate sleep habits, REM sleep latency, absence of OSA, and quality of sleep.

Obstructive sleep apnea (OSA) occurs in up to 66% of Parkinson's disease (PD) patients, higher than in the general population. Although it is more prevalent, the relationship between OSA and PD remains controversial, with some studies confirming and others denying the relationship of OSA with some risk factors and symptoms in patients with PD. OBJECTIVE To determine the factors associated with OSA in PD patients com DP. METHODS A cross-sectional study was performed with 88 consecutive patients with PD from the outpatient clinic. Participants underwent clinical interviews with neurologists and a psychiatrist, assessment using standardized scales (Epworth Sleepiness Scale, Parkinson's Disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of restless legs syndrome/Willis-Ekbom disease, the International Restless Legs Syndrome Rating Scale), and video-polysomnography. RESULTS Individuals with PD and OSA were older and had less insomnia than those with PD without OSA. Regarding the polysomnographic variables, we observed a lower percentage of stage N3 sleep, a higher arousal index, and a higher oxygen desaturation index in those individuals with OSA, relative to those without OSA. In the multivariate analysis, only the percentage of stage N3 sleep and the oxygen desaturation index were significantly different. Besides this, most of the PD patients with OSA had a correlation with sleeping in the supine position (58% of OSA individuals). CONCLUSION The PD patients showed a high prevalence of OSA, with the supine position exerting a significant influence on the OSA in these patients, and some factors that are associated with OSA in the general population did not seem to have a greater impact on PD patients.

Aim: Sleep disorders can be associated with an increased risk for cognitive decline in patients with Parkinson's disease (PD). The aim of this study was to examine the association between cognitive status and presence of sleep symptoms and sleep disorders in PD patients., Methods: We evaluated excessive sleepiness, other sleep symptoms, and performed polysomnography and neuropsychological evaluation in 79 patients. They were classified as having normal cognition (PDNC), mild cognitive impairment (PDMCI), or dementia (PDD)., Results: There were 29 PDNC, 39 PDMCI, and 11 PDD patients. PDD patients were older, had higher scores on the Unified Parkinson's Disease Rating Scale, and lower Schwab and England Activities of Daily Living scores than PDNC patients. After analysis of the polysomnographic variables, it was also found that PDD patients had a lower sleep efficiency, lower total sleep time, and lower number of sleep state changes than PDNC patients. In a stepwise analysis, defining Mattis Dementia Rating Scale scores as the dependent variable, the results were a model that selected three variables that accounted for 59% of the variation in the Mattis Dementia Rating Scale score: wake time after sleep onset, number of state changes, and schooling., Conclusion: We found a significant association between global cognitive performance and wake time after sleep onset and the number of state changes during sleep measured in the polysomnography of PD patients. However, we did not find any other association between sleep disorders or symptoms and cognitive status or cognitive performance of PD patients., (© 2019 The Authors. Psychiatry and Clinical Neurosciences © 2019 Japanese Society of Psychiatry and Neurology.)

Purpose: The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results., Methods: We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test., Results: All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time., Conclusion: Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Introduction: Excessive sleepiness (ES) can affect up to 60% of Parkinson's disease (PD) patients, and it has a multifactorial etiology. It is related to the neurodegenerative processes affecting brain regions responsible for the sleep-wake cycle, the effects of drugs acting on the central nervous system, and the excessive sleep fragmentation of this population., Objectives: To identify the factors associated with the presence of ES in patients with PD., Methods: A cross-sectional study was performed involving 88 consecutive patients with PD from an outpatient clinic. Participants underwent clinical interviews with neurologists and psychiatrist, assessment using standardized scales (Epworth Sleepiness Scale, Parkinson's disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of RLS/WED, International RLS/WED grading scale), and video-polysomnography., Results: The complaint of ES was observed in 55.6% of the participants. The main related factors were: the presence of psychotic disorder, the presence of anxiety disorder, and the use of dopaminergic agonists. No higher prevalence of obstructive sleep apnea and any other sleep disorder was observed in PD group with ES in comparison with the group without ES., Conclusion: PD patients present a high prevalence of ES, and some factors, different from those observed in the general population, seem to have a greater impact in this group of patients., Abbreviations: RLS/ WED: Restless legs syndrome; Willis-Eckbom Disease ES: Excessive sleepiness.

Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by the presence of a complex of signals resulting from the loss of REM sleep atony and manifested by vigorous and sometimes violent motor jerks and nocturnal vocalizations associated with dream enactment. RBD might be a clinical predictor of severity for Parkinson's disease (PD) and one of its most important non-motor manifestations, preceding the emergence of synucleinopathy by several years or even decades. The detection of RBD may represent a therapeutic window for research regarding the development of new neuroprotective therapies with the potential to modify the natural course of synucleinopathies, such as PD. We performed a scoping review of studies indexed in MEDLINE and LILACS focusing on pharmacological interventions for RBD associated with PD. Fourteen articles were selected. Study designs comprised randomized and non-randomized clinical trials (n = 153 participants) and observational studies (retrospective cohorts and case series, n = 248 participants). Melatonin and clonazepam appear to be useful for treating RBD in PD, but these findings are mostly supported by observational studies and a few controlled studies with a small number of participants. New pharmacological agents, such as melatoninergic agonists and phytocannabinoids, appear to be promising therapies. The findings from studies focusing on anticholinesterases and new dopaminergic agents are still deemed inconclusive., (Copyright © 2018. Published by Elsevier B.V.)

Chikungunya virus is an alphavirus transmitted by the mosquito Aedes, mainly Aedes aegypti and Aedes albopictus, that can cause acute illness, mostly self-limited, characterized by fever, maculopapular rash, and disabling polyarthritis/arthralgia, with an incubation period of 1 to 12 days. Chikungunya was largely regarded as a non-fatal and self-limited disease, but recently, serious cases have been reported including some with severe involvement of the nervous system, such as meningoencephalitis, myelitis, polyradiculitis, and polyradiculoneuropathy. In this report, we describe the clinical and laboratory findings of two patients with encephalitis associated with chikungunya in a northeastern city in Brazil, who exhibited a good outcome, with improvement after treatment with i.v. immunoglobulin (IVIg).

Objectives: To determine the frequency of major sleep disorders in patients with Parkinson's disease (PD), diagnosed according to the third international classification of sleep disorders, and assess the relationship of those disorders with the quality of life., Methods: A cross-sectional study was performed involving 88 consecutive patients with PD from outpatient clinic. Participants were subjected to clinical interviews, assessment using standardized scales (Epworth Sleepiness Scale, PD Questionnaire, Pittsburgh sleep quality index (PSQI) and, for individuals with a diagnosis of RLS/WED, International RLS/WED grading scale), and video-polysomnography., Results: We observed sleep disorders in 96.5% of the participants, with REM-sleep behavior disorder found in 62.5%, obstructive sleep apnea in 62.5%, insomnia in 55.7%, and restless legs syndrome in 28.4%. We observed a correlation between health-related quality of life with the PSQI and the Epworth sleepiness scale., Conclusion: Patients with PD have a high prevalence of sleep disorders. The quality of sleep and excessive daytime sleepiness significantly affect the quality of life in these individuals., (© 2017 S. Karger AG, Basel.)

Purpose of Review: This article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD)., Recent Findings: Pathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum. Nonmotor manifestations are frequent and may include pain, cramps, dysautonomia, cognitive deficits, psychiatric manifestations, olfactory deficits, fatigue, nutritional issues, and sleep disorders., Summary: Sleep disorders are frequent in MJD, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, sleep apnea, periodic limb movements during sleep, parasomnia, and others. Pathophysiological mechanisms related to sleep disorders in Machado-Joseph are complex and poorly understood. Considering that sleep complaints are a treatable condition, recognizing sleep disorders in MJD is relevant.

Objective: The aim of the present study is to examine the accuracy of the Brazilian versions of the Montreal Cognitive Assessment (MoCA) and the Addenbrooke's Cognitive Examination-Revised (ACE-R) to screen for mild cognitive impairment (PDMCI) and dementia (PDD) in patients with Parkinson's disease (PD)., Method: Both scales were administered to a final convenience sample of 79 patients with PD. Patients were evaluated by a neurologist, a psychiatrist and a neuropsychologist using UPDRS, Hoehn and Yahr and Schwab and England scales, global deterioration scale, a psychiatric structured interview, Mattis Dementia Rating Scale and other cognitive tests., Results: There were 32 patients with PDMCI and 17 patients with PDD. The MoCA and the ACE-R were able to discriminate patients with PDD from the others., Conclusion: Both scales showed to be useful to screen for dementia but not for mild cognitive impairment in patients with PD.

Objective and Background: Excessive fragmentary myoclonus (EFM) is characterized by subtle arrhythmic and excessive jerks that are usually asymmetric and asynchronous. EFM occurs in different areas of the body, mainly the face and distal parts of the arms and legs, and is detected by surface electromyography during sleep. The present study aimed to determine the prevalence of EFM in Parkinson's disease (PD) patients at a tertiary level outpatient clinic as well as to describe the clinical and polysomnographic profiles of these patients., Methods: A total of 62 consecutive PD patients were included in the study. Patients were evaluated using the Brazilian version of the PD Sleep Scale, Portuguese Language version of Epworth's Daytime Sleepiness Scale validated for Brazilian population, Brazilian Portuguese version of PD Quality of Life Scale, and Global Deterioration Scale. Evaluation of the sleep disorders was performed by clinical interview and polysomnography., Results: EFM was found in 62.7% of PD patients. EFM was found to be associated with obstructive sleep apnea syndrome and advanced age., Conclusions: EFM occurs in a significantly high proportion of PD patients and is related to obstructive sleep apnea syndrome (OSAS) and advanced age, so EFM should be systematically investigated by polysomnography (PSG) in PD patients.