Purpose: Blood-brain barrier (BBB) plays a crucial role in maintaining brain health, and its dysfunction during the early stages of neurodegeneration may contribute to neuropathological processes. Patients with late-onset epilepsy with unknown etiology (LOEU) can present early signs of neurodegeneration and convert to an overt neurodegenerative disease longitudinally. This study analyzed cerebrospinal-fluid (CSF)/serum albumin ratio (Qalb), as a marker of BBB integrity, and assessed biomarkers of neurodegeneration in patients with LOEU compared to age- and sex-matched controls.
View Article and Find Full Text PDFIntroduction: Blood-brain barrier (BBB) dysfunction has been hypothesized to be a triggering factor in neurodegeneration. This study compared moderate-severe obstructive sleep apnea (OSA) patients with controls to evaluate the effects of this sleep disorder on BBB integrity, as well as explore the impact of continuous positive airway pressure (CPAP) treatment on BBB.
Methods: This study included moderate-severe OSA patients, OSA patients being treated with CPAP for at least 12 months (OSA-CPAP), and a control group with no neurological or psychiatric diseases.
To investigate the role of neuroinflammation as mediator of amyloid-β-induced cortical activity changes in Alzheimer's disease (AD), we examined the relationship between cerebrospinal fluid (CSF) inflammatory cytokines (IL-1β, IL-2, IL-4, IL-6, IL-7, IL-8, IL-10, IL-12, IL-13, IL-17, TNF-α, IFN-γ, GM-CSF, G-CSF, MIP-1α, MCP-1) and electroencephalographic (EEG) abnormalities in a cohort of biologically defined AD patients (n = 55, M:F = 19:36, median age 73, Mini-Mental State Examination ≥ 22). We retrieved a positive association between IL-4 CSF levels and EEG background activity frequency; IL-7, IL-8, and IL-12 CSF levels were positively associated with the presence of interictal epileptiform discharges. Neuroinflammation accompanying AD pathology may enhance the amyloid's epileptogenic potential while also counteracting neurodegenerative damage.
View Article and Find Full Text PDFStudy Objectives: Sex influences sleep through physiological differences and impacts the clinical presentation and quality of life in patients with sleep disorders. However, there is a paucity of evidence regarding differences between men and women affected by narcolepsy. This study aimed to explore the sex-based dissimilarities in time to diagnosis and clinical features in narcolepsy.
View Article and Find Full Text PDFIntroduction: Obstructive sleep apnoea syndrome (OSAS) is considered a risk factor for several comorbidities. Alteration in gut microbiome was documented in OSAS animal models and in paediatric patients. This study analysed gut microbiome composition in adult patients with OSAS compared to healthy controls.
View Article and Find Full Text PDFBackground: Interleukin-6 (IL-6) represents one of the main molecules involved in inflammatory responses, which can be altered in either patients with cognitive impairment or obstructive sleep apnea (OSA). The present study aimed to evaluate serum IL-6 levels and cognitive performance in patients with severe OSA (Apnea-Hypopnea Index - AHI >30/h).
Methods: Thirty patients with severe OSA were compared to 15 controls similar in age, sex, and Body Mass Index.
Seasonality of excessive daytime sleepiness has been proposed, yet no research has specifically investigated its impact on daytime sleepiness and cataplexy in central disorders of hypersomnolence. This study examined seasonal variations in daytime sleepiness and cataplexy in narcolepsy type 1, narcolepsy type 2 and idiopathic hypersomnia. Patients included in the study were on stable pharmacological treatment, and participated in sleep medicine interviews to assess diurnal sleepiness and daytime napping and completed the Epworth Sleepiness Scale to assess excessive daytime sleepiness (Epworth Sleepiness Scale ≥ 10).
View Article and Find Full Text PDFAnn Clin Transl Neurol
November 2024
Methods: This study assessed data from two cohorts of patients with alpha-synucleinopathies (University of Brescia and University of Rome Tor-Vergata cohorts). Consecutive participants with video-polysomnography-confirmed iRBD, Parkinson's disease (PD), dementia with Lewy bodies (DLB) and controls underwent neurological, clinical and I-FP-CIT SPECT imaging assessments. Individuals with iRBD were longitudinally monitored to collect clinical phenoconversion to PD or DLB.
View Article and Find Full Text PDFβ-amyloid (Aβ) in Alzheimer's disease (AD) and orexin in narcolepsy are considered crucial biomarkers for diagnosis and therapeutic targets. Recently, orexin and Aβ cerebral dynamics have been studied in both pathologies, but how they interact with each other remains further to be known. In this study, we investigated the reliability of using the correlation between orexin-A and Aβ CSF levels as a candidate marker to explain the chain of events leading to narcolepsy or AD pathology.
View Article and Find Full Text PDFCNS Neurol Disord Drug Targets
April 2025
Introduction: Refractory and super-refractory status epilepticus are medical emergencies that must be promptly treated in consideration of their high mortality and morbidity rate. Nevertheless, the available evidence of effective treatment for these conditions is scarce. Among novel antiseizure medications (ASMs), highly purified cannabidiol (hpCBD) has shown noteworthy efficacy in reducing seizures in Lennox-Gastaut syndrome, Dravet syndrome, and Tuberous Sclerosis Complex.
View Article and Find Full Text PDFPurpose: This study aimed to evaluate the functionality of the brainstem structures through the blink reflex (BR) test in patients with obstructive sleep apnoea (OSA) and to assess the effects of continuous positive airway pressure (CPAP) treatment on BR responses.
Methods: Patients with moderate-severe OSA and controls underwent BR testing. Patients with OSA who were adherent to CPAP therapy repeated BR testing at 6 months follow-up.
Background: Emotional impulsivity has been found to be relevant in explaining the association between sleep problems and depressive symptoms, suggesting the potential role of impulsivity as a key underlying mechanism of this link. The objective of this study was to take a preliminary step in understanding the mediating role of impulsivity in the relation between excessive daytime sleepiness (EDS) and depression in patients with obstructive sleep apnea syndrome (OSAS) and to compare psychological and demographic characteristics between different levels of daytime sleepiness.
Methods: A total of 138 patients with OSAS underwent polygraphic cardiorespiratory monitoring and completed a series of questionnaires investigating perceived sleepiness, depression, impulsivity, and other psychological characteristics.
Study Objectives: Besides the quantification of orexin-A/hypocretin-1 cerebrospinal fluid (CSF) levels in narcolepsy for diagnostic purposes, several other CSF biomarkers have been evaluated, although with controversial results. Since CSF lactate concentrations fluctuate according to the sleep-wake cycle with higher levels during wakefulness and lower levels during sleep, as documented in animal model studies, the present study aimed at quantifying the CSF lactate levels in patients with narcolepsy type 1 (NT1) and 2 (NT2), which are two sleep disorders featured by excessive daytime sleepiness (EDS).
Methods: Patients with NT1 and NT2 were enrolled in this study and compared to a control group of similar age and sex.
Study Objectives: Obstructive sleep apnea (OSA) and low bone mineral density (BMD) are 2 prevalent conditions with a significant negative impact on patients' well-being and quality of life. Recent research has shown low BMD at different bone sites in male patients with OSA. Although the efficacy of continuous positive airway pressure (CPAP) treatment for OSA has been widely demonstrated, the evidence for understanding its impact on BMD and other bone-related outcomes is insufficient.
View Article and Find Full Text PDFBackground: Sleep impairment has been commonly reported in Alzheimer's disease (AD) patients. The association between sleep dysregulation and AD biomarkers has been separately explored in mild cognitive impairment (MCI) and AD patients.
Objective: The present study investigated cerebrospinal-fluid (CSF) and F-fluoro-deoxy-glucose positron emission tomography (F-FDG-PET) biomarkers in MCI and AD patients in order to explore their association with sleep parameters measured with polysomnography (PSG).
Study Objectives: Patients with isolated rapid-eye-movement sleep behavior disorder (iRBD) have an increased risk of developing neurodegenerative diseases. This study assessed cerebrospinal-fluid (CSF) biomarkers of neurodegeneration and blood-brain barrier (BBB) alteration in patients with iRBD compared to controls and ascertain whether these biomarkers may predict phenoconversion to alpha-synucleinopathies (Parkinson's Disease (PD), Dementia with Lewy bodies (DLB), Multiple System Atrophy (MSA)).
Methods: Patients and controls underwent between 2012 and 2016 a neurological assessment, a lumbar puncture for CSF biomarker analysis (β-amyloid42 - Aβ42; total-tau, and phosphorylated tau), and BBB alteration (CSF/serum albumin ratio).
Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy associated with numerous neurological signs and symptoms. Altered postural tone and the need for a caregiver-assisted wheelchair are features characterizing patients with LGS. Highly purified cannabidiol (CBD) is a novel antiseizure medication (ASM) recommended for seizure treatment, in combination with clobazam, in patients with LGS.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
February 2023
Lacosamide (LCM) is a third-generation antiseizure medication (ASM), and its effect on sleep architecture was supported by a few studies in patients with drug-resistant epilepsy in which LCM was used as an add-on treatment. To gather knowledge on ASMs effects on sleep, this study aimed at evaluating the effects of LCM monotherapy on sleep in patients with focal epilepsy. Ten patients diagnosed with epilepsy (mean age 58.
View Article and Find Full Text PDFObjective: Sleep impairment is one of the most common comorbidities affecting people with epilepsy (PWE). The bidirectional relation between epilepsy and sleep has been widely established. Several studies investigated subjective sleep quality and daytime vigilance in PWE, highlighting frequent complaints of sleep fragmentation, difficulties in falling asleep, and daytime sleepiness.
View Article and Find Full Text PDFBackground: Antiseizure medications (ASMs) may affect nocturnal sleep and daytime vigilance. Perampanel (PER), a third-generation ASM, showed to improve nocturnal sleep in patients with epilepsy (PWE). Although ASMs can have beneficial effects on nocturnal sleep and daytime sleepiness, no study investigated the effect of PER on both sleep-wake cycle and daytime sleepiness.
View Article and Find Full Text PDFBackground: Idiopathic rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of α-synucleinopathies. Reliable biomarkers are needed to predict phenoconversion.
Objective: The aim was to derive and validate a brain glucose metabolism pattern related to phenoconversion in iRBD (iRBDconvRP) using spatial covariance analysis (Scaled Subprofile Model and Principal Component Analysis [SSM-PCA]).
Objective: The aim of our study was to evaluate the diagnostic and prognostic value of Electroencephalogram (EEG), brain Magnetic Resonance Imaging (MRI) and cerebrospinal fluid features, currently representing Creutzfeldt-Jacob Disease (CJD) diagnostic criteria.
Methods: A retrospective study on rapidly progressive dementia patients admitted at the Neurology Clinic of the University of Rome "Tor Vergata" between 2015 and 2020 was conducted. We evaluated clinical, EEG, cerebrospinal fluid and neuroradiological findings.
Background: Mild cognitive impairment (MCI) is frequently diagnosed in patients with isolated rapid eye movement (REM) sleep behavior disorder (iRBD), although the extent of MCI-associated neuropathology has not yet been quantified. The present study compared the differences in neuropsychiatric, neuropsychological, and neuroimaging markers of neurodegeneration in MCI-iRBD and iRBD patients with normal cognition.
Methods: Sixty-one patients with iRBD were included in the study: 30 patients were included in the MCI subgroup (RBD-MCI) and 31 in the normal cognition subgroup (RBD-NC).
Non-sleep symptoms, as depression, anxiety and overweight, are often encountered in narcoleptic patients. The purposes of this study are to evaluate mood, impulsiveness, emotion, alexithymia, and eating behavior in patients with narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2) compared to healthy controls and to investigate possible correlations between clinical-demographic data, polysomnographic parameters, and subjective questionnaires. Consecutive patients affected by NT1 and NT2 underwent to Patient Health Questionnaire-9, Generalized Anxiety Disorder-7 Scale, Barratt Impulsivity Scale-11, Difficulties in Emotion Regulation Scale, Toronto Alexithymia Scale, and Eating Disorder Evaluation Questionnaire.
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