Ambra Stefani
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View article: Lack of epistatic interaction of <i>SNCA</i> with <i>APOE</i> in synucleinopathies
Lack of epistatic interaction of <i>SNCA</i> with <i>APOE</i> in synucleinopathies Open
Two recent studies suggested that the APOE ε4 haplotype was associated with increased α-synuclein pathology in cell and mouse models. Genetic variants in the SNCA region have strong association with Parkinson’s disease (PD), Dementia with …
View article: Aus tausendundeiner schlaflosen Nacht zur leitlinienkonformen Insomnie-Diagnostik und Therapie
Aus tausendundeiner schlaflosen Nacht zur leitlinienkonformen Insomnie-Diagnostik und Therapie Open
Zusammenfassung Hintergrund Die chronische Insomnie betrifft bis zu 10 % der Erwachsenen und bleibt in der Praxis häufig unzureichend diagnostiziert und behandelt. Bisher fehlt ein praxisnahes, strukturiertes Instrument, das die Diagnostik…
View article: Actigraphy-based detection of isolated REM sleep behavior disorder: multicenter validation across devices and populations
Actigraphy-based detection of isolated REM sleep behavior disorder: multicenter validation across devices and populations Open
View article: Sleep Abnormalities and Risk of Alzheimer’s Disease
Sleep Abnormalities and Risk of Alzheimer’s Disease Open
View article: Sleep Related Movement Disorders: What's New and Changing Clinical Practice
Sleep Related Movement Disorders: What's New and Changing Clinical Practice Open
Restless legs syndrome (RLS) is a common sensorimotor disorder, and the most common sleep‐related movement disorder with a prevalence of up to 15% in the European and US population. This review addresses key aspects of RLS, focusing on nov…
View article: Sleep architecture and rapid eye movement sleep without atonia in post-COVID-19 insomnia
Sleep architecture and rapid eye movement sleep without atonia in post-COVID-19 insomnia Open
Study Objectives Insomnia associated with COVID-19 infection is a common complaint in long-COVID. Studies to date have predominantly examined post-COVID-19 sleep disturbances with questionnaires. We aimed to investigate whether there are d…
View article: Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links
Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links Open
Objective To explore potential genetic and/or causal associations between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder. Methods We conducted polygenic risk scor…
View article: Effects of nocturnal periodic breathing on sympathetic nerve activity and ventilatory control at high altitude: a randomised, crossover study
Effects of nocturnal periodic breathing on sympathetic nerve activity and ventilatory control at high altitude: a randomised, crossover study Open
During acute exposure to the hypoxia of high altitude, activation of the peripheral chemoreflex increases sympathetic nerve activity (SNA) and pulmonary ventilation. If exposure extends over several days, SNA and ventilation further increa…
View article: Classification of Parkinson’s disease and isolated REM sleep behaviour disorder: delineating progression markers from the sebum volatilome
Classification of Parkinson’s disease and isolated REM sleep behaviour disorder: delineating progression markers from the sebum volatilome Open
View article: Blood will tell: plasma biomarkers in isolated REM sleep behavior disorder
Blood will tell: plasma biomarkers in isolated REM sleep behavior disorder Open
View article: HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity
HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity Open
In this study, we investigated the effects of HLA-DQB1*03:01 on the onset age of type-1 narcolepsy. We pooled data from 5,339 cases from China, Europe, Korea, Japan, and the United States to conduct the first transethnic study on age of on…
View article: Isolated <scp>REM</scp> Sleep Behaviour Disorder—Is Screening Possible?
Isolated <span>REM</span> Sleep Behaviour Disorder—Is Screening Possible? Open
Rapid eye movement (REM) sleep behaviour disorder (RBD) is a parasomnia characterised by the loss of muscle atonia during REM sleep and dream‐enacting behaviours. In its isolated form (iRBD) it is widely recognised as an early stage of alp…
View article: The Future of Parasomnias
The Future of Parasomnias Open
Parasomnias are abnormal behaviours or mental experiences during sleep or the sleep–wake transition. As disorders of arousal (DOA) or REM sleep behaviour disorder (RBD) can be difficult to capture in the sleep laboratory and may need to be…
View article: Sleep as the Foundation of Brain Health
Sleep as the Foundation of Brain Health Open
Sleep is a vital function, taking about one-third of a human lifetime, and is essential for achieving and maintaining brain health. From homeostatic neurophysiology to emotional and procedural memory processing to clearance of brain waste,…
View article: From mechanisms to future therapy: a synopsis of isolated REM sleep behavior disorder as early synuclein-related disease
From mechanisms to future therapy: a synopsis of isolated REM sleep behavior disorder as early synuclein-related disease Open
View article: Endorsement of: “Position paper for the treatment of nightmare disorder in adults: An American Academy of Sleep Medicine position paper” by the World Sleep Society
Endorsement of: “Position paper for the treatment of nightmare disorder in adults: An American Academy of Sleep Medicine position paper” by the World Sleep Society Open
View article: Long-Term Debt and Short-Term Rates
Long-Term Debt and Short-Term Rates Open
We study the two-way relationship between fixed-rate mortgages (FRMs) and monetary policy in a panel of up to 35 countries over the last two decades. The dataset includes quarterly information on the composition of mortgage flows and stock…
View article: Restless legs syndrome: abbreviated guidelines by the German sleep society and the German neurological society
Restless legs syndrome: abbreviated guidelines by the German sleep society and the German neurological society Open
View article: Temporal progression of sleep electroencephalography features in isolated rapid eye movement sleep behaviour disorder
Temporal progression of sleep electroencephalography features in isolated rapid eye movement sleep behaviour disorder Open
Summary Previous studies indicated that patients with isolated rapid eye movement (REM) sleep behaviour disorder (iRBD) exhibit alterations in spectral electroencephalographic (EEG), spindle, and slow‐wave features. As it is currently unkn…
View article: Machine Learning Predicts Phenoconversion from Polysomnography in Isolated REM Sleep Behavior Disorder
Machine Learning Predicts Phenoconversion from Polysomnography in Isolated REM Sleep Behavior Disorder Open
Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal stage of alpha-synucleinopathies. This study aimed at developing a fully-automated machine learning framework for the prediction of phenoconversion in patients…
View article: Lack of Epistatic Interaction of<i>SNCA</i>with<i>APOE</i>in Synucleinopathies
Lack of Epistatic Interaction of<i>SNCA</i>with<i>APOE</i>in Synucleinopathies Open
Two recent studies suggested that the APOE ε4 haplotype was associated with increased α-synuclein pathology in cell and mouse models. Genetic variants in the SNCA region have strong association with Parkinson’s disease (PD), Dementia with …
View article: Editorial: Insights in sleep-related movement disorders and parasomnias
Editorial: Insights in sleep-related movement disorders and parasomnias Open
Keywords: neuroscience, sleep, sleep-related movement disorders, restless legs syndrome, RLS, REM sleep behavior disorder, NREM parasomnia, RBD
View article: Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction Open
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of…
View article: Effect of positive airway pressure treatment on excessive fragmentary myoclonus in 100 sleep-related breathing disorder patients
Effect of positive airway pressure treatment on excessive fragmentary myoclonus in 100 sleep-related breathing disorder patients Open
The initiation of PAP treatment led to a significant reduction of minNREM+EFM, but not of FMI. The results suggest that PAP therapy might influence the distribution of FM potentials.
View article: HLA dependency and possible clinical relevance of intrathecally synthesized anti-IgLON5 IgG4 in anti-IgLON5 disease
HLA dependency and possible clinical relevance of intrathecally synthesized anti-IgLON5 IgG4 in anti-IgLON5 disease Open
Background Anti-IgLON5 disease is a rare chronic autoimmune disorder characterized by IgLON5 autoantibodies predominantly of the IgG4 subclass. Distinct pathogenic effects were described for anti-IgLON5 IgG1 and IgG4, however, with uncerta…
View article: Sex Differences in Insomnia and Circadian Rhythm Disorders: A Systematic Review
Sex Differences in Insomnia and Circadian Rhythm Disorders: A Systematic Review Open
Insomnia and circadian rhythm disorders are increasingly common in modern society and lead to significant challenges for people’s health and well-being. Some studies suggests that men and women differ in neurohormonal secretion, biological…
View article: Effects of periodic breathing on sleep at high altitude: a randomized, placebo‐controlled, crossover study using inspiratory CO<sub>2</sub>
Effects of periodic breathing on sleep at high altitude: a randomized, placebo‐controlled, crossover study using inspiratory CO<sub>2</sub> Open
Hypoxia at high altitude facilitates changes in ventilatory control that can lead to nocturnal periodic breathing (nPB). Here, we introduce a placebo‐controlled approach to prevent nPB by increasing inspiratory CO 2 and used it to assess w…
View article: The Bidirectional Relationship between Sleep and Neurodegeneration: Actionability to Improve Brain Health
The Bidirectional Relationship between Sleep and Neurodegeneration: Actionability to Improve Brain Health Open
Recently, it has become increasingly clear that there is a bidirectional relationship between sleep/circadian rhythms and neurodegeneration. Knowledge about this topic further improved after the description of the glymphatic system, which …
View article: Clinical neurophysiology of REM parasomnias: Diagnostic aspects and insights into pathophysiology
Clinical neurophysiology of REM parasomnias: Diagnostic aspects and insights into pathophysiology Open
Parasomnias are due to a transient unstable state dissociation during entry into sleep, within sleep, or during arousal from sleep, and manifest with abnormal sleep related behaviors, perceptions, emotions, dreams, and autonomic nervous sy…
View article: Sleep features and long-term incident neurodegeneration: a polysomnographic study
Sleep features and long-term incident neurodegeneration: a polysomnographic study Open
Study Objectives Sleep is altered early in neurodegenerative diseases (NDDs) and may contribute to neurodegeneration. Long-term, large sample-size studies assessing NDDs association with objective sleep measures are scant. We aimed to inve…