Publications by authors named "Federica Provini"

Article Synopsis
  • Charles Fisher was a groundbreaking researcher in sleep medicine who made significant contributions in various areas of sleep study, particularly concerning REM sleep in narcoleptic patients.
  • He was the first to document several key concepts, such as the effects of benzodiazepines on night terrors and the connection between REM sleep and sexual arousal.
  • Collaborating with notable figures like William C. Dement, Fisher’s work laid a foundation for understanding sleep disorders, behaviors, and cycles, influencing the field well beyond his era.
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Myoclonus has multiple clinical manifestations and heterogeneous generators and etiologies, encompassing a spectrum of disorders and even physiological events. This paper, developed from a teaching course conducted by the Neurophysiology Commission of the Italian League against Epilepsy, aims to delineate the main types of myoclonus, identify potential underlying neurological disorders, outline diagnostic procedures, elucidate pathophysiological mechanisms, and discuss appropriate treatments. Neurophysiological techniques play a crucial role in accurately classifying myoclonic phenomena, by means of simple methods such as EEG plus polymyography (EEG + Polymyography), evoked potentials, examination of long-loop reflexes, and often more complex protocols to study intra-cortical inhibition-facilitation In clinical practice, EEG + Polymyography often represents the first step to identify myoclonus, acquire signals for off-line studies and plan the diagnostic work-up.

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  • The study investigates "Disorders of Arousal" (DoA), such as sleepwalking, by comparing brain activity during DoA episodes with motor arousal in both DoA patients and healthy sleepers.
  • Researchers used EEG recordings from 53 DoA patients and 33 control subjects to analyze EEG patterns and identify differences in brain activity.
  • Results indicated that DoA episodes were characterized by distinct EEG patterns, suggesting alterations in the arousal process which will aid in future research into DoA's underlying causes and indicators.
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Background: Insomnia persists as a prevalent sleep disorder among middle-aged and older adults, significantly impacting quality of life and increasing susceptibility to age-related diseases. It is classified into objective insomnia (O-IN) and paradoxical insomnia (P-IN), where subjective and objective sleep assessments diverge. Current treatment regimens for both patient groups yield unsatisfactory outcomes.

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  • * Agrypnia excitata leads to a loss of slow-wave sleep, continuous motor and autonomic overactivity over 24 hours, and unusual episodes of dream-like stupor.
  • * This condition can occur in various situations like delirium tremens and fatal familial insomnia, prompting insights into how the brain manages sleep, wakefulness, and overall bodily balance.
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  • There are key differences in sleep patterns and disorders between women and men, influenced by hormonal changes related to reproductive stages like pregnancy and menopause.
  • Women tend to experience more insomnia and report symptoms like fatigue and mood swings more often than men.
  • The review emphasizes the necessity for clinicians and researchers to consider these gender differences in sleep disorders and evaluates current research on women's sleep health.
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Study Objectives: To define sleep-related movements in healthy adults according to sex and age.

Methods: Sleep-related movements from 50 video-polysomnography (vPSG) recordings of 27 men and 23 women, from 20 to 70 years old, were classified according to International classification of sleep disorders (ICSD-3-TR) and American Academy of Sleep Medicine (AASM) criteria (codified movements); the remaining movements (non-codified movements) were described according to type (elementary movements-EMs or complex movements-CMs), topography (focal, segmental, multifocal or generalized) and, if present, were assigned to motor patterns (MPs).

Results: Of 4057 movements analyzed, 54.

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Article Synopsis
  • - This study examined ictal bradycardia (IB) and asystole (IA) in patients with sleep-related hypermotor epilepsy (SHE) using video-EEG recordings.
  • - Researchers analyzed data from 200 patients, finding that IB/IA occurred in 2% of them, with IA averaging 10 seconds and one case of IB noted.
  • - The patients with IB/IA were more likely to have focal cortical dysplasia (FCD) and pathogenic variants in specific genes related to the mTOR pathway compared to those without these conditions.
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COVID-19 had a massive impact on sleep, resulting in overall increase of sleep disturbances. During lockdown many factors contributed to sleep disturbances, in particular changes in sleep-wake habits and stress. This article will describe the frequency and features of the principal parasomnias and the impact of the pandemic and the government restriction measures on sleep.

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Background: Neurodegenerative diseases often alter sleep architecture, complicating the application of the standard sleep scoring rules. There are no recommendations to overcome this problem. Our aim was to develop a scoring method that incorporates the stages previously applied in dementia with Lewy Bodies (DLB), anti-IgLON5 disease, and fatal insomnia, and to test it in patients with alpha-synucleinopathies.

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Article Synopsis
  • Idiopathic REM sleep behavior disorder (iRBD) may indicate early stages of neurodegenerative diseases, making these patients critical for testing potential therapies.
  • The FARPRESTO study is focusing on iRBD patients to identify risk factors that predict progression to more severe conditions through clinical and imaging assessments.
  • In a study of 365 participants, 33.6% showed progression to overt synucleinopathy, with factors like older age, cognitive issues, and depression linked to increased risk.
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Non-rapid eye movement (NREM) sleep parasomnias are recurrent abnormal behaviors emerging as incomplete arousals out of NREM sleep. Mounting evidence on NREM sleep parasomnias calls for an update of clinical and therapeutical strategies. In the current review, we summarize the state of the art and provide the necessary background to stimulate a critical revision of diagnostic criteria of disorders of arousal (DoA), the most common NREM sleep parasomnia.

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Isolated REM Sleep Behavior Disorder (iRBD) is the strongest prodromal marker for α-synucleinopathies. Overt α-synucleinopathies and aging share several mechanisms, but this relationship has been poorly investigated in prodromal phases. Using DNA methylation-based epigenetic clocks, we measured biological aging in videopolysomnography confirmed iRBD patients, videopolysomnography-negative and population-based controls.

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The neurodegenerative synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are characterized by a typically lengthy prodromal period of progressive subclinical motor and non-motor manifestations. Among these, idiopathic REM sleep behaviour disorder is a powerful early predictor of eventual phenoconversion, and therefore represents a critical opportunity to intervene with neuroprotective therapy. To inform the design of randomized trials, it is essential to study the natural progression of clinical markers during the prodromal stages of disease in order to establish optimal clinical end points.

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Unlabelled: Disorder of arousal (DOA) is a form of non-rapid eye movement sleep parasomnia caused by partial or incomplete arousal from deep sleep. Most previous studies of patients with DOA analyzed prearousal hypersynchronous delta activity (HSDA), but few studies have described postarousal HSDA. Herein, we report a 23-year-old man with a history of abrupt arousal during sleep and confused behavior and speech since he was 14 years old.

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Disorders of arousal (DoA) are NREM parasomnias characterized by motor and emotional behaviors emerging from incomplete arousals from deep sleep. DoA are largely present in pediatric populations, a period during which they are labeled as self-limited manifestations. However, an extensive literature has shown that DoA can persist in adulthood, with different characteristics from childhood DoA.

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Transcriptomics in Parkinson's disease (PD) offers new insights into the molecular mechanism of PD pathogenesis. Several pathways, such as inflammation and protein degradation, have been identified by differential gene expression analysis. Our aim was to identify gene expression differences underlying the disease etiology and the discovery of pre-symptomatic risk biomarkers for PD from a multicenter study in the context of the PROPAG-AGEING project.

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Multiple system atrophy (MSA) and Parkinson's disease (PD) may share overlapping features particularly at early disease stage, including sleep alterations, but have profoundly different prognoses. Certain sleep phenomena and disorders of motor control are more prevalent in multiple system atrophy, such as REM sleep behaviour disorder (RBD). We quantitatively tested whether pervasive muscle activity during sleep occurs in subjects with multiple system atrophy versus Parkinson's disease.

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Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal stage of α-synucleinopathies, such as Parkinson's disease (PD), which are characterized by the loss of dopaminergic neurons in substantia nigra, associated with abnormal iron load. The assessment of presymptomatic biomarkers predicting the onset of neurodegenerative disorders is critical for monitoring early signs, screening patients for neuroprotective clinical trials and understanding the causal relationship between iron accumulation processes and disease development. Here, we used Quantitative Susceptibility Mapping (QSM) and 7T MRI to quantify iron deposition in Nigrosome 1 (N1) in early PD (ePD) patients, iRBD patients and healthy controls and investigated group differences and correlation with disease progression.

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