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1. Blood neurofilament light chain and S100B as biomarkers of neurological involvement and functional prognosis in COVID-19: a multicenter study

Author

Bisulli, Francesca, Muccioli, Lorenzo, Taruffi, Lisa, Bedin, Roberta, Felici, Silvia, Zenesini, Corrado, Baccari, Flavia, Gentile, Mauro, Orlandi, Niccolò, Rossi, Simone, Nicodemo, Marianna, d’Achille, Fabio, Viale, Pierluigi, Zaccaroni, Stefania, Lodi, Raffaele, Liguori, Rocco, Zini, Andrea, Guarino, Maria, Cortelli, Pietro, Lazzarotto, Tiziana, Janigro, Damir, and Meletti, Stefano

Published
2025
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8. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Author

Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara, Souza, Cleide dos Santos, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Jones, Ashley, Dewan, Ramita, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J.B., van den Berg, Leonard H., D’Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O’Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., and Ferraiuolo, Laura

Published
2024
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11. Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study

Author

Vicino, Alex, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Cerri, Federica, Ferraro, Manfredi, Capece, Giuliana, Gadaleta, Giulio, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, D'Errico, Eustachio, Tramacere, Irene, Banfi, Paolo, Bortolani, Sara, Zanin, Riccardo, Maioli, Maria Antonietta, Silvestrini, Mauro, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena, and Maggi, Lorenzo

Published
2023
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12. Effect of tauroursodeoxycholic acid on survival and safety in amyotrophic lateral sclerosis: a retrospective population-based cohort study

Author

Ferri, Laura, Gessani, Annalisa, Liguori, Rocco, Cortelli, Pietro, Michelucci, Roberto, Salvi, Fabrizio, Bartolomei, Ilaria, Borghi, Anna Maria, Zini, Andrea, Rinaldi, Rita, Tugnoli, Valeria, Pugliatti, Maura, Codeluppi, Luca, Valzania, Franco, Stragliati, Filippo, Nuredini, Andi, Romano, Sonia, D'Orsi, Alessandro, Parrino, Liborio, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Paola, Gizzi, Matteo, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Vitiello, Maria, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Bianchi, Francesca, Dossi, Marco Currò, Ganino, Cristiana, Zucchi, Elisabetta, Musazzi, Umberto Maria, Fedele, Guido, Martinelli, Ilaria, Gianferrari, Giulia, Simonini, Cecilia, Fini, Nicola, Ghezzi, Andrea, Caputo, Maria, Sette, Elisabetta, Vacchiano, Veria, Zinno, Lucia, Anceschi, Pietro, Canali, Elena, Vinceti, Marco, Ferro, Salvatore, and Mandrioli, Jessica

Published
2023
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18. Anti-LGI1 encephalitis following COVID-19 vaccination: a case series

Author

Asioli, Gian Maria, Muccioli, Lorenzo, Barone, Valentina, Giacomozzi, Sebastiano, Rossi, Simone, Silvestri, Tania, Spinardi, Luca, Mastrangelo, Vincenzo, Bernabè, Giorgia, Leta, Chiara, Brutto, Mariachiara, Faggiano, Chiara, Liguori, Rocco, Bisulli, Francesca, Longoni, Marco, Tinuper, Paolo, Guarino, Maria, and Cortelli, Pietro

Published
2022
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19. Clinical characteristics of a large cohort of patients with narcolepsy candidate for pitolisant: a cross-sectional study from the Italian PASS Wakix® Cohort

Author

Mutti, Carlotta, Brunetti, Valerio, Figorilli, Michela, Liguori, Claudio, Pizza, Fabio, Proserpio, Paola, Sacco, Tommaso, Pedrazzi, Giuseppe, Lecomte, Isabelle, Blanchard, Nora, Agostoni, Elio Clemente, Bonanni, Enrica, Centonze, Diego, Cicolin, Alessandro, Della Marca, Giacomo, Ferini-Strambi, Luigi, Ferri, Raffaele, Gigli, Gian Luigi, Izzi, Francesca, Liguori, Rocco, Lodi, Raffaele, Nobili, Lino, Parrino, Liborio, Placidi, Fabio, Puligheddu, Monica, Romigi, Andrea, Savarese, Maria Antonietta, Terzaghi, Michele, and Plazzi, Giuseppe

Published
2022
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23. Chromatic Pupillometry Findings in Alzheimers Disease.

Author

Romagnoli, Martina, Stanzani Maserati, Michelangelo, De Matteis, Maddalena, Capellari, Sabina, Carbonelli, Michele, Amore, Giulia, Cantalupo, Gaetano, Zenesini, Corrado, Liguori, Rocco, Sadun, Alfredo, Carelli, Valerio, Park, Jason, and La Morgia, Chiara

Subjects
Alzheimer’s disease, chromatic pupillometry, melanopsin retinal ganglion cells, post-illumination pupil response, pupil, pupillary light reflex
Abstract

Intrinsically photosensitive melanopsin retinal ganglion cells (mRGCs) are crucial for non-image forming functions of the eye, including the photoentrainment of circadian rhythms and the regulation of the pupillary light reflex (PLR). Chromatic pupillometry, using light stimuli at different wavelengths, makes possible the isolation of the contribution of rods, cones, and mRGCs to the PLR. In particular, post-illumination pupil response (PIPR) is the most reliable pupil metric of mRGC function. We have previously described, in post-mortem investigations of AD retinas, a loss of mRGCs, and in the remaining mRGCs, we demonstrated extensive morphological abnormalities. We noted dendrite varicosities, patchy distribution of melanopsin, and reduced dendrite arborization. In this study, we evaluated, with chromatic pupillometry, the PLR in a cohort of mild-moderate AD patients compared to controls. AD and controls also underwent an extensive ophthalmological evaluation. In our AD cohort, PIPR did not significantly differ from controls, even though we observed a higher variability in the AD group and 5/26 showed PIPR values outside the 2 SD from the control mean values. Moreover, we found a significant difference between AD and controls in terms of rod-mediated transient PLR amplitude. These results suggest that in the early stage of AD there are PLR abnormalities that may reflect a pathology affecting mRGC dendrites before involving the mRGC cell body. Further studies, including AD cases with more severe and longer disease duration, are needed to further explore this hypothesis.

Published
2020

26. Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

Author

Tropeano, Concetta Valentina, La Morgia, Chiara, Achilli, Alessandro, Iommarini, Luisa, Tioli, Gaia, Caporali, Leonardo, Olivieri, Anna, Valentino, Maria Lucia, Liguori, Rocco, Barboni, Piero, Martinuzzi, Andrea, Tonon, Caterina, Lodi, Raffaele, Torroni, Antonio, Carelli, Valerio, and Ghelli, Anna Maria

Subjects
CYTOCHROME b, HYPERTROPHIC cardiomyopathy, SENSORINEURAL hearing loss, RETINITIS pigmentosa, INTELLECTUAL disabilities
Abstract

We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome b (MT-CYB) gene on a haplogroup K1c1a background, which includes a set of four non-synonymous polymorphisms also present in the same gene. Biochemical studies documented respiratory chain impairment due to complex III defect. This variant fulfils the criteria for being pathogenic and was previously reported in a sporadic case of fatal neonatal polyvisceral failure. [ABSTRACT FROM AUTHOR]

Published
2025
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27. Antibodies against neuronal surface antigens in acute stroke: a systematic review and meta-analysis.

Author

Paolucci, Matteo, Zini, Andrea, Morelli, Luana, Liguori, Rocco, and Giannoccaro, Maria Pia

Subjects
CELL surface antigens, ISCHEMIC stroke, STROKE, STROKE patients, METHYL aspartate receptors
Abstract

Background: Antibodies against neuronal surface antigens (NSA-Abs), particularly against the NMDA receptor (NMDAR-Ab), have been reported in acute stroke patients (ASP). However, their role in stroke is far from being understood. Methods: We conducted a systematic review and meta-analysis to investigate: 1) the frequency of NSA-Abs in patients with acute stroke compared to controls; 2) the de novo appearance of NSA-Abs after stroke; and 3) their effects on the clinical outcome. Results: We included nine studies in the qualitative analysis and seven in the quantitative analysis. Analyses were restricted to NMDAR-Abs due to the lack of data about other NSA-Abs. Considering only studies that adopted a cell-based assay, IgA-IgM NMDAR-Abs isotypes (but not the IgG) were found more frequently in patients with acute stroke (OR 2.69, 95% CI 2.00–3.62, I2 = 4%). There was no de novo NMDAR-Abs formation after stroke. There was no statistical difference in mean discharge/day–7 NIHSS (SMD 0.21, 95% CI -1.10–1.52, I2 = 84%) and 3–12-month mRS (SMD 0.38, 95% CI -0.56-1.32, I2 = 78%) between patients with stroke with and without NMDAR-Abs seropositivity. Conclusions: Serum IgA/IgM NMDAR-Abs are more frequent in patients with stroke than controls. Due to several methodological issues, these findings should be interpreted cautiously. Additional, methodologically robust studies are needed to clarify the prevalence and significance of NMDAR-Abs in patients with stroke. Systematic review registration: https://www.crd.york.ac.uk/prospero/display%5frecord.php?ID=CRD42022241278#:~:text=https%3A//www.crd.york.ac.uk/prospero/display%5frecord.php%3FID%3DCRD42022241278 , identifier CRD42022241278. [ABSTRACT FROM AUTHOR]

Published
2025
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29. The role of antibodies in small fiber neuropathy: a review of currently available evidence.

Author

Morelli, Luana, Serra, Lucrezia, Ricciardiello, Fortuna, Gligora, Ilaria, Donadio, Vincenzo, Caprini, Marco, Liguori, Rocco, and Giannoccaro, Maria Pia

Subjects
NERVOUS system, TREATMENT effectiveness, NEURALGIA, COVID-19, AUTOANTIBODIES
Abstract

Small fiber neuropathy (SFN) is a peripheral nerve condition affecting thin myelinated Aδ and unmyelinated C-fibers, characterized by severe neuropathic pain and other sensory and autonomic symptoms. A variety of medical disorders can cause SFN; however, more than 50% of cases are idiopathic (iSFN). Some investigations suggest an autoimmune etiology, backed by evidence of the efficacy of IVIG and plasma exchange. Several studies suggest that autoantibodies directed against nervous system antigens may play a role in the development of neuropathic pain. For instance, patients with CASPR2 and LGI1 antibodies often complain of pain, and in vitro and in vivo studies support their pathogenicity. Other antibodies have been associated with SFN, including those against TS-HDS, FGFR3, and Plexin-D1, and new potential targets have been proposed. Finally, a few studies reported the onset of SFN after COVID-19 infection and vaccination, investigating the presence of potential antibody targets. Despite these overall findings, the pathogenic role has been demonstrated only for some autoantibodies, and the association with specific clinical phenotypes or response to immunotherapy remains to be clarified. The purpose of this review is to summarise known autoantibody targets involved in neuropathic pain, putative attractive autoantibody targets in iSFN patients, their potential as biomarkers of response to immunotherapy and their role in the development of iSFN. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesis.

Author

Greco, Giacomo, Risi, Mario, Masciocchi, Stefano, Businaro, Pietro, Rigoni, Eleonora, Zardini, Elisabetta, Scaranzin, Silvia, Morandi, Chiara, Diamanti, Luca, Foiadelli, Thomas, Pia Giannoccaro, Maria, Morelli, Luana, Liguori, Rocco, Barone, Paolo, Tozzo, Alessandra, Passarini, Alice, Gelibter, Stefano, Patti, Francesco, Banfi, Paola, and Simone, Anna Maria

Subjects
CEREBROSPINAL fluid, NEUROMYELITIS optica, MYELIN oligodendrocyte glycoprotein, POSTVACCINAL encephalitis, TRANSVERSE myelitis, CLINICAL epidemiology
Published
2024
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31. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

Author

Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Bombaci, Alessandro, Grassano, Maurizio, Brunetti, Maura, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Imperiale, Daniele, De Mattei, Marco, Amarù, Salvatore, Comi, Cristoforo, Labate, Carmelo, Poglio, Fabio, Ruiz, Luigi, Testa, Lucia, Rota, Eugenia, Ghiglione, Paolo, Launaro, Nicola, Di Sapio, Alessia, Mandrioli, Jessica, Fini, Nicola, Martinelli, Ilaria, Zucchi, Elisabetta, Gianferrari, Giulia, Simonini, Cecilia, Meletti, Stefano, Liguori, Rocco, Vacchiano, Veria, Salvi, Fabrizio, Bartolomei, Ilaria, Michelucci, Roberto, Cortelli, Pietro, Rinaldi, Rita, Borghi, Anna Maria, Zini, Andrea, Sette, Elisabetta, Tugnoli, Valeria, Pugliatti, Maura, Canali, Elena, Codeluppi, Luca, Valzania, Franco, Zinno, Lucia, Pavesi, Giovanni, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Patrizia, Bracaglia, Martina, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Currò Dossi, Marco, Vidale, Simone, Ferro, Salvatore, Faghri, Faraz, Brunn, Fabian, Dadu, Anant, Nalls, Michael A, Campbell, Roy H, and Traynor, Bryan J

Published
2022
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38. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Author

Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francois, Mantegazza, Renato, and Bernasconi, Pia

Published
2021
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39. Intravenous immunoglobulin therapy in COVID-19-related encephalopathy

Author

Muccioli, Lorenzo, Pensato, Umberto, Bernabè, Giorgia, Ferri, Lorenzo, Tappatà, Maria, Volpi, Lilia, Cani, Ilaria, Henry, Olivia J., Ceccaroni, Francesca, Cevoli, Sabina, Stofella, Gloria, Pasini, Elena, Fornaro, Giacomo, Tonon, Caterina, Vidale, Simone, Liguori, Rocco, Tinuper, Paolo, Michelucci, Roberto, Cortelli, Pietro, and Bisulli, Francesca

Published
2021
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40. Reverse Split Hand as a Neurophysiological Hallmark of Spinal Muscular Atrophy.

Author

Vacchiano, Veria, Morabito, Francesca, Bonan, Luigi, Teodorani, Luca, Faini, Claudia, Rizzo, Giovanni, and Liguori, Rocco

Subjects
MOTOR neuron diseases, SPINAL muscular atrophy, AMYOTROPHIC lateral sclerosis, MOTOR unit, ACTION potentials
Abstract

Objective: Motor unit number estimation (MUNE) methods are crucial for estimating lower motor neuron loss in motor neuron diseases. The MScanFit MUNE (MScanFit) is a novel method that estimates MUNE values from compound motor action potential (CMAP) scans, demonstrating high sensitivity and reproducibility in detecting motor unit loss in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we aimed to characterize the pattern of motor unit loss in the hand intrinsic muscles of SMA patients compared to ALS patients and healthy controls (HC) using MScanFit MUNE. Methods: Patients diagnosed with ALS, adult SMA patients, and HC were prospectively enrolled. MScanFit examinations were performed on the abductor pollicis brevis (APB) and abductor digiti minimi (ADM) muscles. To focus on the different patterns of motor neuron degeneration in the intrinsic hand muscles, the ratio of CMAP amplitude of APB to ADM (CMAP ratio) and the ratio of MUNE values of APB to those of the ADM muscle (MUNE ratio) were calculated. Results: The study included 46 ALS patients, 16 SMA patients, and 23 HC. MScanFit MUNE revealed distinct patterns of motor unit degeneration in SMA patients, notably more severe in the ADM than in the APB muscle, indicating a "reverse" split-hand phenomenon. Both CMAP and MUNE ratios demonstrated high diagnostic accuracy in distinguishing ALS from SMA, with the MUNE ratio performing better. Conclusions: MScanFit MUNE is a valuable tool for exploring distinct patterns of motor neuron degeneration in patients with different types of motor neuron diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Self-Induced Stretch Syncope: An Unusual Non-Epileptic Paroxysmal Event. A Case Report and Literature Mini-Review.

Author

Mercante, Anna, Pizza, Fabio, Pondrelli, Federica, Zini, Andrea, Cirillo, Luigi, Tinuper, Paolo, Liguori, Rocco, Migliaccio, Ludovica, Vandi, Stefano, Gobbi, Giuseppe, and Plazzi, Giuseppe

Abstract

Stretch syncope (SS) is a benign, uncommon, distinct condition described mainly in adolescent males. It is responsible for paroxysmal events started by stereotyped stretching actions with neck hyperextension, culminating in alteration of consciousness. Motor manifestations are often present and may be associated with a generalized slowing of the electroencephalographic activity, challenging the diagnosis. Despite a few cases reported in the literature, different mechanisms have been implied in the pathogenesis, involving both local and systemic hemodynamic phenomena. Here, we report on an 8-year-old girl with self-induced SS, providing new insights into the related neurophysiological profile and discussing the possible etiology. Our evidence of transient and dynamic vascular impairment supports the hypothesis of SS as a multifactorial disorder. [ABSTRACT FROM AUTHOR]

Published
2024
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42. Co‐occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.

Author

Giannoccaro, Maria Pia, Morelli, Luana, Ricciardiello, Fortuna, Donadio, Vincenzo, Bartiromo, Fiorina, Tonon, Caterina, Carbonelli, Michele, Amore, Giulia, Carelli, Valerio, Liguori, Rocco, and La Morgia, Chiara

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis‐like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene DNAJC30. This case emphasizes the necessity of extensive investigations for other treatable conditions in patients with LHON and otherwise unexplained extraocular involvement and the possibility that also visual symptoms can respond to immune therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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47. HLA-DQB1*05 subtypes and not DRB1*10:01 mediates risk in anti-IgLON5 disease

Author

Yogeshwar, Selina M, primary, Muñiz-Castrillo, Sergio, additional, Sabater, Lidia, additional, Peris-Sempere, Vicente, additional, Mallajosyula, Vamsee, additional, Luo, Guo, additional, Yan, Han, additional, Yu, Eric, additional, Zhang, Jing, additional, Lin, Ling, additional, Fagundes Bueno, Flavia, additional, Ji, Xuhuai, additional, Picard, Géraldine, additional, Rogemond, Véronique, additional, Pinto, Anne Laurie, additional, Heidbreder, Anna, additional, Höftberger, Romana, additional, Graus, Francesc, additional, Dalmau, Josep, additional, Santamaria, Joan, additional, Iranzo, Alex, additional, Schreiner, Bettina, additional, Giannoccaro, Maria Pia, additional, Liguori, Rocco, additional, Shimohata, Takayoshi, additional, Kimura, Akio, additional, Ono, Yoya, additional, Binks, Sophie, additional, Mariotto, Sara, additional, Dinoto, Alessandro, additional, Bonello, Michael, additional, Hartmann, Christian J, additional, Tambasco, Nicola, additional, Nigro, Pasquale, additional, Prüss, Harald, additional, McKeon, Andrew, additional, Davis, Mark M, additional, Irani, Sarosh R, additional, Honnorat, Jérôme, additional, Gaig, Carles, additional, Finke, Carsten, additional, and Mignot, Emmanuel, additional

Published
2024
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49. 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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