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2. Motor Disorders in Sleep

Author

Bhat, Sushanth, Lysenko, Liudmila, Elkhatib Smidt, Stacey D., Provini, Federica, Zucconi, Marco, Manconi, Mauro, Chokroverty, Sudhansu, Thomas, Robert J., editor, Bhat, Sushanth, editor, and Chokroverty, Sudhansu, editor

Published
2023
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4. Sleep and Epilepsy

Author

Nobili, Lino, Montini, Angelica, Zucconi, Marco, Chokroverty, Sudhansu, Provini, Federica, Thomas, Robert J., editor, Bhat, Sushanth, editor, and Chokroverty, Sudhansu, editor

Published
2023
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7. A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins

Author

Canafoglia, Laura, Meletti, Stefano, Bisulli, Francesca, Alvisi, Lara, Assenza, Giovanni, d’Orsi, Giuseppe, Dubbioso, Raffaele, Ferlazzo, Edoardo, Ferri, Lorenzo, Franceschetti, Silvana, Gambardella, Antonio, Granvillano, Alice, Licchetta, Laura, Nucera, Bruna, Panzica, Ferruccio, Perulli, Marco, Provini, Federica, Rubboli, Guido, Strigaro, Gionata, Suppa, Antonio, Tartara, Elena, and Cantalupo, Gaetano

Published
2024
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9. Scoring of large muscle group movements during sleep: an International Restless Legs Syndrome Study Group position statement.

Author

Ferri, Raffaele, DelRosso, Lourdes, Provini, Federica, Stefani, Ambra, Walters, Arthur, and Picchietti, Daniel

Subjects
criteria, large muscle group movements during sleep, quantification, restless sleep disorder, rules, sleep scoring, sleep-related movements, Humans, Movement, Muscles, Polysomnography, Restless Legs Syndrome, Sleep
Abstract

There is a gap in the manuals for scoring sleep-related movements because of the absence of rules for scoring large movements. A taskforce of the International Restless Legs Syndrome Study Group (IRLSSG) elaborated rules that define the detection and quantification of movements involving large muscle groups. Consensus on each of the criteria in this article was reached by testing the presence of consensus on a first proposal; if no consensus was achieved, the concerns were considered and used to modify the proposal. This process was iterated until consensus was reached. A preliminary analysis of the duration of movements involving large muscle groups was also carried out on data from two previous studies, which, however, used a visual analysis of video-polysomnographic (PSG) recordings obtained from children or adults. Technical specifications and scoring rules were designed for the detection and quantification of large muscle group movements during sleep with a duration between 3 and 45 seconds in adults or 3 and 30 seconds in children, characterized by an increase in electromyographic activity and/or the occurrence of movement artifact in any combination of at least two recommended channels and not meeting the criteria for any other type of movement. Large muscle group movements are often accompanied by sleep stage changes, arousals, awakenings, and heart rate rises. The absence of clear and detailed rules defining them has likely impeded the development of studies that might disclose their clinical relevance; these new rules fill this gap.

Published
2021

13. Sleep-Related Rhythmic Movements and Sleep Terrors: A Possible Common Neurophysiological Background in a Preschool Boy.

Author

Merli, Elena, Ferri, Raffaele, DelRosso, Lourdes, Mignani, Francesco, Loddo, Giuseppe, Traverso, Annalisa, and Provini, Federica

Subjects
polysomnography, sleep terrors, sleep-related rhythmic movements, Child, Preschool, Electroencephalography, Follow-Up Studies, Humans, Male, Niacinamide, Night Terrors, Polysomnography, Sleep-Wake Transition Disorders, Videotape Recording
Abstract

We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were observed. In addition to the association between a sleep movement disorder and a disorder of arousal, our case shows that sleep-related rhythmic movements can arise not only during relaxed wakefulness or during a stable sleep stage, but also during a less clearly defined sleep stage during which it is difficult to further subtype non-rapid eye movement sleep. On the contrary, the portion of sleep without rhythmic movement episodes were clearly depicted with their physiological features. These findings might be of relevance for understanding the pathophysiology of both sleep-related rhythmic movements and sleep terrors and emphasize the importance to assess sleep using polysomnography, especially when episodes are frequent and injurious. The neurophysiological information obtained from this assessment might be helpful and guide an eventual treatment option.

Published
2019

14. Evaluation of iron overload in nigrosome 1 via quantitative susceptibility mapping as a progression biomarker in prodromal stages of synucleinopathies

Author

Lancione, Marta, Donatelli, Graziella, Del Prete, Eleonora, Campese, Nicole, Frosini, Daniela, Cencini, Matteo, Costagli, Mauro, Biagi, Laura, Lucchi, Giacomo, Tosetti, Michela, Godani, Massimiliano, Arnaldi, Dario, Terzaghi, Michele, Provini, Federica, Pacchetti, Claudio, Cortelli, Pietro, Bonanni, Enrica, Ceravolo, Roberto, and Cosottini, Mirco

Published
2022
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16. Fatal Familial Insomnia

Author

Baldelli, Luca, Calandra-Buonaura, Giovanna, Provini, Federica, Cortelli, Pietro, Chokroverty, Sudhansu, editor, and Cortelli, Pietro, editor

Published
2021
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18. Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients

Author

Zago, Elisa, Dal Molin, Alessandra, Dimitri, Giovanna Maria, Xumerle, Luciano, Pirazzini, Chiara, Bacalini, Maria Giulia, Maturo, Maria Giovanna, Azevedo, Tiago, Spasov, Simeon, Gómez-Garre, Pilar, Periñán, María Teresa, Jesús, Silvia, Baldelli, Luca, Sambati, Luisa, Calandra-Buonaura, Giovanna, Garagnani, Paolo, Provini, Federica, Cortelli, Pietro, Mir, Pablo, Trenkwalder, Claudia, Mollenhauer, Brit, Franceschi, Claudio, Liò, Pietro, and Nardini, Christine

Published
2022
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21. Biomarkers of conversion to α-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder

Author

Miglis, Mitchell G, Adler, Charles H, Antelmi, Elena, Arnaldi, Dario, Baldelli, Luca, Boeve, Bradley F, Cesari, Matteo, Dall'Antonia, Irene, Diederich, Nico J, Doppler, Kathrin, Dušek, Petr, Ferri, Raffaele, Gagnon, Jean-François, Gan-Or, Ziv, Hermann, Wiebke, Högl, Birgit, Hu, Michele T, Iranzo, Alex, Janzen, Annette, Kuzkina, Anastasia, Lee, Jee-Young, Leenders, Klaus L, Lewis, Simon J G, Liguori, Claudio, Liu, Jun, Lo, Christine, Ehgoetz Martens, Kaylena A, Nepozitek, Jiri, Plazzi, Giuseppe, Provini, Federica, Puligheddu, Monica, Rolinski, Michal, Rusz, Jan, Stefani, Ambra, Summers, Rebekah L S, Yoo, Dallah, Zitser, Jennifer, and Oertel, Wolfgang H

Published
2021
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23. Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment

Author

Calandra-Buonaura, Giovanna, Alfonsi, Enrico, Vignatelli, Luca, Benarroch, Eduardo E., Giannini, Giulia, Iranzo, Alex, Low, Phillip A., Martinelli, Paolo, Provini, Federica, Quinn, Niall, Tolosa, Eduardo, Wenning, Gregor K., Abbruzzese, Giovanni, Bower, Pamela, Antonini, Angelo, Bhatia, Kailash P., Bonavita, Jacopo, Pellecchia, Maria Teresa, Pizzorni, Nicole, Tison, François, Ghorayeb, Imad, Meissner, Wassilios G., Ozawa, Tetsutaro, Pacchetti, Claudio, Pozzi, Nicolò Gabriele, Vicini, Claudio, Schindler, Antonio, Cortelli, Pietro, and Kaufmann, Horacio

Published
2021
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24. The Arousal Disorders Questionnaire: a new and effective screening tool for confusional arousals, Sleepwalking and Sleep Terrors in epilepsy and sleep disorders units

Author

Loddo, Giuseppe, La Fauci, Giusy, Vignatelli, Luca, Zenesini, Corrado, Cilea, Rosalia, Mignani, Francesco, Cecere, Annagrazia, Mondini, Susanna, Baldelli, Luca, Bisulli, Francesca, Licchetta, Laura, Mostacci, Barbara, Guaraldi, Pietro, Giannini, Giulia, Tinuper, Paolo, and Provini, Federica

Published
2021
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25. A geroscience approach for Parkinson’s disease: Conceptual framework and design of PROPAG-AGEING project

Author

Adarmes-Gómez, Astrid, Azevedo, Tiago, Bacalini, Maria Giulia, Baldelli, Luca, Bartoletti-Stella, Anna, Bhatia, Kailash P., Bonilla-Toribio, Marta, Boninsegna, Claudia, Broli, Marcella, Buiza-Rueda, Dolores, Calandra-Buonaura, Giovanna, Capellari, Sabina, Carrión-Claro, Mario, Cilea, Rosalia, Clayton, Robert, Cortelli, Pietro, Molin, Alessandra Dal, De Luca, Silvia, De Massis, Patrizia, Dimitri, Giovanna Maria, Doykov, Ivan, Escuela-Martin, Rocio, Fabbri, Giovanni, Franceschi, Claudio, Gabellini, Anna, Garagnani, Paolo, Giuliani, Cristina, Gómez-Garre, Pilar, Guaraldi, Pietro, Hägg, Sara, Hällqvist, Jenny, Halsband, Claire, Heywood, Wendy, Houlden, Henry, Huertas, Ismae, Jesús, Silvia, Jylhävä, Juulia, Labrador-Espinosa, Miguel A., Licari, Cristina, Liò, Pietro, Luchinat, Claudio, Macias, Daniel, Macrì, Stefania, Magrinelli, Francesca, Rodríguez, Juan Francisco Martín, Delledonne, Massimo, Maturo, Maria Giovanna, Mengozzi, Giacomo, Meoni, Gaia, Mignani, Francesco, Milazzo, Maddalena, Mills, Kevin, Mir, Pablo, Mollenhauer, Brit, Nardini, Christine, Nassetti, Stefania Alessandra, Pedersen, Nancy L., Periñán-Tocino, Maria Teresa, Pirazzini, Chiara, Provini, Federica, Ravaioli, Francesco, Sala, Claudia, Sambati, Luisa, Scaglione, Cesa Lorella Maria, Schade, Sebastian, Schreglmann, Sebastian, Spasov, Simeon, Strom, Stephen, Tejera-Parrado, Cristina, Tenori, Leonardo, Trenkwalder, Claudia, Turano, Paola, Valzania, Franco, Ortega, Rosario Vigo, Williams, Dylan, Xumerle, Luciano, Zago, Elisa, Dal Molin, Alessandra, and Kwiatkowska, Katarzyna Malgorzata

Published
2021
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27. Disorders of arousal: a physiopathological window to explore the mechanisms regulating sleep arousal

Author

Provini, Federica, Mainieri, Greta <1987>, Provini, Federica, and Mainieri, Greta <1987>

Abstract

Disorders of Arousal (DoA) belong to NREM parasomnias and are characterized by motor and emotional episodes arising from incomplete awakenings from NREM sleep. DoA episodes embody at the same time the double nature of the arousal process, that is preserving sleep as well as respond to sleep perturbations, thus being an ideal model to study sleep arousal. In the first part of this work, we performed a spectral whole scalp EEG analysis exploring the neurophysiologic correlates of the pre-motor onset of the episodes in a large sample of patients with DoA, disclosing the co-existence of both slow and fast EEG frequencies over overlapping areas before DoA episodes, suggesting an alteration of local sleep mechanisms. Episodes of different complexity were preceded by a similar EEG activation, implying that they possibly share a similar pathophysiology. In the second part of this work, we performed a spectral whole scalp EEG analysis comparing the pre-motor onset of the episodes and normal arousals from healthy sleepers, disclosing the persistence of slow frequencies as well as sigma band (expression of sleep spindles) in DoA episodes. Overall, these results might subtend a higher tendence to preserve sleep and a more defective mechanism toward developing a complete arousal in patients with DoA. In the last part of our work, we evaluated 15 patients with DoA with 15 controls in a functional MRI study during wakefulness in addition to a proton magnetic resonance spectroscopy (1H-MRS) focused on cingulate cortex. We disclosed subtle alterations on posterior cingulate cortex as well as an increased connectivity in sensory-motor network, possibly representing a trait-functional feature responsible for the dysfunctional arousal process in DoA patients

Published
2024

30. Gender medicine and sleep disorders: from basic science to clinical research.

Author

Perger, Elisa, Silvestri, Rosalia, Bonanni, Enrica, Di Perri, Maria Caterina, Fernandes, Mariana, Provini, Federica, Zoccoli, Giovanna, and Lombardi, Carolina

Subjects
SLEEP disorders, GENDER medicine, MEDICAL research, GENDER, GENDER differences (Psychology)
Abstract

Several pivotal differences in sleep and sleep disorders are recognized between women and men. This is not only due to changes in hormonal balance during women's reproductive life, such as in pregnancy and menopause. Women are more likely to report insomnia and non-specific symptoms of apneas, such as fatigue or mood disturbance, compared to men. Thus, it is important for clinicians and researchers to take sex and gender differences into account when addressing sleep disorders in order to acknowledge the biology unique to women. We present a narrative review that delves into the primary sleep disorders, starting from basic science, to explore the impact of gender differences on sleep and the current status of research on women's sleep health. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients

Author

Muccioli, Lorenzo, primary, Bruschi, Giulia, additional, Ferri, Lorenzo, additional, Scarabello, Anna, additional, Taruffi, Lisa, additional, Di Vito, Lidia, additional, Mostacci, Barbara, additional, Provini, Federica, additional, Calandra-Buonaura, Giovanna, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, and Bisulli, Francesca, additional

Published
2024
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36. Melanopsin retinal ganglion cell loss in Alzheimer disease

Author

La Morgia, Chiara, Ross‐Cisneros, Fred N, Koronyo, Yosef, Hannibal, Jens, Gallassi, Roberto, Cantalupo, Gaetano, Sambati, Luisa, Pan, Billy X, Tozer, Kevin R, Barboni, Piero, Provini, Federica, Avanzini, Pietro, Carbonelli, Michele, Pelosi, Annalisa, Chui, Helena, Liguori, Rocco, Baruzzi, Agostino, Koronyo‐Hamaoui, Maya, Sadun, Alfredo A, and Carelli, Valerio

Subjects
Neurosciences, Neurodegenerative, Alzheimer's Disease, Eye Disease and Disorders of Vision, Aging, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Sleep Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Eye, Actigraphy, Aged, Aged, 80 and over, Alzheimer Disease, Amyloid beta-Peptides, Axons, Chronobiology Disorders, Female, Humans, Male, Middle Aged, Optic Nerve, Retinal Ganglion Cells, Rod Opsins, Tomography, Optical Coherence, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveMelanopsin retinal ganglion cells (mRGCs) are photoreceptors driving circadian photoentrainment, and circadian dysfunction characterizes Alzheimer disease (AD). We investigated mRGCs in AD, hypothesizing that they contribute to circadian dysfunction.MethodsWe assessed retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in 21 mild-moderate AD patients, and in a subgroup of 16 we evaluated rest-activity circadian rhythm by actigraphy. We studied postmortem mRGCs by immunohistochemistry in retinas, and axons in optic nerve cross-sections of 14 neuropathologically confirmed AD patients. We coimmunostained for retinal amyloid β (Aβ) deposition and melanopsin to locate mRGCs. All AD cohorts were compared with age-matched controls.ResultsWe demonstrated an age-related optic neuropathy in AD by OCT, with a significant reduction of RNFL thickness (p = 0.038), more evident in the superior quadrant (p = 0.006). Axonal loss was confirmed in postmortem AD optic nerves. Abnormal circadian function characterized only a subgroup of AD patients. Sleep efficiency was significantly reduced in AD patients (p = 0.001). We also found a significant loss of mRGCs in postmortem AD retinal specimens (p = 0.003) across all ages and abnormal mRGC dendritic morphology and size (p = 0.003). In flat-mounted AD retinas, Aβ accumulation was remarkably evident inside and around mRGCs.InterpretationWe show variable degrees of rest-activity circadian dysfunction in AD patients. We also demonstrate age-related loss of optic nerve axons and specifically mRGC loss and pathology in postmortem AD retinal specimens, associated with Aβ deposition. These results all support the concept that mRGC degeneration is a contributor to circadian rhythm dysfunction in AD.

Published
2016

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