Author: "Pensato, A." / Topic: neurology - Searchworks@Jio Institute Digital Library Search Results

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38 results on '"Pensato, A."'

1. CAR t-cell therapy in BOlogNa–NEUrotoxicity TReatment and Assessment in Lymphoma (CARBON–NEUTRAL): proposed protocol and results from an Italian study

Author: Umberto Pensato, Giulia Amore, Lorenzo Muccioli, Susanna Sammali, Francesca Rondelli, Rita Rinaldi, Roberto D’Angelo, Marianna Nicodemo, Susanna Mondini, Luisa Sambati, Gian Maria Asioli, Simone Rossi, Rossella Santoro, Lucia Cretella, Susy Ferrari, Luca Spinardi, Luca Faccioli, Stefano Fanti, Andrea Paccagnella, Elisabetta Pierucci, Beatrice Casadei, Cinzia Pellegrini, Pier Luigi Zinzani, Massimiliano Bonafè, Pietro Cortelli, Francesca Bonifazi, and Maria Guarino
Subjects: Neurology, Neurology (clinical)
Published: 2023

2. Encephalopathy in COVID-19 Presenting With Acute Aphasia Mimicking Stroke

Author: Umberto Pensato, Lorenzo Muccioli, Elena Pasini, Maria Tappatà, Lorenzo Ferri, Lilia Volpi, Laura Licchetta, Stella Battaglia, Giada Rossini, Isabella Bon, Maria Carla Re, Luigi Cirillo, Luigi Simonetti, Laura Ludovica Gramegna, Roberto Michelucci, Pietro Cortelli, Andrea Zini, and Francesca Bisulli
Subjects: cytokine release syndrome, car-t, ICANS, neurology, delirium, SARS-CoV-2, Neurology. Diseases of the nervous system, RC346-429
Abstract: Introduction: Neurological manifestations are emerging as relatively frequent complications of corona virus disease 2019 (COVID-19), including stroke and encephalopathy. Clinical characteristics of the latter are heterogeneous and not yet fully elucidated, while the pathogenesis appears related to neuroinflammation in a subset of patients.Case: A middle-aged man presented with acute language disturbance at the emergency department. Examination revealed expressive aphasia, mild ideomotor slowing, and severe hypocapnic hypoxemia. Multimodal CT assessment and electroencephalogram (EEG) did not reveal any abnormalities. COVID-19 was diagnosed based on chest CT findings and positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reverse transcription PCR (RT-PCR) on nasopharyngeal swab. The following day, neurological symptoms progressed to agitated delirium and respiratory status worsened, requiring admission to the ICU and mechanical ventilation. Brain MRI and cerebrospinal fluid (CSF) studies were unremarkable. RT-PCR for SARS-CoV-2 on CSF was negative. He received supportive treatment and intravenous low-dose steroids. His neurological and respiratory status resolved completely within 2 weeks.Conclusions: We report a patient with reversible COVID-19-related encephalopathy presenting as acute aphasia, mimicking stroke or status epilepticus, eventually evolving into delirium. Although large-vessel stroke is frequently encountered in COVID-19, our case suggests that focal neurological deficits may occur as the earliest feature of encephalopathy. Neurological status reversibility and the absence of abnormalities on brain MRI are consistent with a functional rather than a structural neuronal network impairment.
Published: 2020
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3. Fulminant cerebral edema following CAR T-cell therapy: case report and pathophysiological insights from literature review

Author: Umberto Pensato, Lorenzo Muccioli, Pierluigi Zinzani, Roberto D’Angelo, Elisabetta Pierucci, Beatrice Casadei, Michele Dicataldo, Serena De Matteis, Pietro Cortelli, Francesca Bonifazi, and Maria Guarino
Subjects: Neurology, Neurology (clinical)
Published: 2022

4. Case report: Reversible punctate inflammatory foci in the corpus callosum: A novel radiological finding of CAR T-cell therapy-related neurotoxicity

Author: Pensato, Umberto, de Philippis, Chiara, Pistolese, Flavio, Mannina, Daniele, Marcheselli, Simona, Politi, Letterio S., Santoro, Armando, and Bramanti, Stefania
Subjects: Neurology, Neurology (clinical)
Abstract: IntroductionChimeric antigen receptor T-cell therapy-related neurotoxicity is a novel cytokine-mediated neurological syndrome that may present with a broad spectrum of manifestations. Descriptions of novel distinctive features are pivotal to untangling this condition's clinical and instrumental signature in order to inform diagnosis and pathophysiology.CaseA 27-year-old female patient received anti-CD19 CAR T cells for a refractory primary mediastinal B-cell lymphoma. At 6 days after the infusion, she developed mild ideo-motor slowing, dysgraphia, and drowsiness. Despite specific treatment with dexamethasone, her neurological status progressively worsened to a comatose state within 24 h. EEG and CSF analyses were non-specific, showing background slowing and inflammatory findings. Brain MRI revealed multiple focal punctate areas of T2-weighted hyperintensity localized in the body and isthmus of the corpus callosum. Following the administration of high-dose intravenous methylprednisolone, her neurological status resolved within 48 h. Notably, the follow-up brain MRI did not reveal any abnormalities in the corpus callosum, except for a reduction of fractional anisotropy.ConclusionReversible punctate inflammatory foci of the body and isthmus of the corpus callosum may represent a novel radiological finding of CAR T-cell therapy-related neurotoxicity.
Published: 2023

5. Locking down the CGRP pathway during the COVID-19 pandemic lockdown: the PandeMig study

Author: Adriana Fallacara, Sabina Cevoli, Paola Torelli, Claudia Altamura, Gabriella Egeo, Piero Barbanti, Giulia Pierangeli, Cinzia Aurilia, Fabrizio Vernieri, Umberto Pensato, Nicoletta Brunelli, Luisa Fofi, Valentina Favoni, Altamura C., Cevoli S., Aurilia C., Egeo G., Fofi L., Torelli P., Brunelli N., Pierangeli G., Favoni V., Fallacara A., Pensato U., Barbanti P., and Vernieri F.
Subjects: Male, Neurology, Longitudinal Studie, Cohort Studies, 0302 clinical medicine, Migraine Disorder, Surveys and Questionnaires, Pandemic, Longitudinal Studies, 030212 general & internal medicine, CGRP, General Medicine, Middle Aged, Psychiatry and Mental health, Italy, Cohort, Quarantine, Female, Neurosurgery, Coronavirus Infections, Cohort study, Human, Adult, medicine.medical_specialty, Calcitonin Gene-Related Peptide Receptor Antagonist, Migraine Disorders, Pneumonia, Viral, Clinical Neurology, Dermatology, Calcitonin gene-related peptide, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, Calcitonin Gene-Related Peptide Receptor Antagonists, Internal medicine, medicine, Humans, Pandemics, Migraine, business.industry, Coronavirus Infection, COVID-19, medicine.disease, Galcanezumab, Presenteeism, Neurology (clinical), Cohort Studie, business, 030217 neurology & neurosurgery, Erenumab
Abstract: Objectives: The COVID-19 pandemic and the consequent lockdown came as a storm disrupting people’s everyday life. This study aimed at observing whether the COVID-19 related lockdown influenced migraine frequency and disability in migraine patients on therapy with monoclonal antibodies inhibiting the CGRP pathway. Methods: In this longitudinal observational cohort study, 147 consecutive patients receiving monthly administration of erenumab or galcanezumab were enrolled in four Italian headache centers. All patients filled a questionnaire concerning working and household settings, recent flu symptoms or COVID-19 diagnosis, and family loss due to COVID-19 infection. Monthly migraine days (MMDs), monthly painkiller intake (MPI), and HIT-6 disability relative to the first month of lockdown imposition (T-lock) and the month before (T-free) were also collected. Results: From T-free to T-lock, the cohort displayed a reduction in MMDs (from 10.5 ± 7.6 to 9.8 ± 7.6, p =.024) and HIT-6 scores (from 59.3 ± 8.3 men reduced MPI more frequently than women (p =.005). Conclusions: Our study observed that the lockdown impact to 57.8 ± 8.8, p=.009), while MPI resulted unchanged (from 11.6 ± 11.5 to 11.1 ± 11.7; p =.114). MMDs, MPI, and HIT-6 variations from T-free to T-lock did not differ according to work settings or household. Patients beyond the first 3 months of therapy presented less often a reduction in MMDs (p =.006) and on everyday life did not affect the migraine load in patients receiving monoclonal antibodies inhibiting the CGRP pathway. Patients in the first months of therapy experienced a greater improvement according to drug pharmacokinetics, while women more frequently needed rescue medications, possibly indicating presenteeism or cephalalgophobia.
Published: 2020

6. Frontal predominant encephalopathy with early paligraphia as a distinctive signature of CAR T-cell therapy-related neurotoxicity

Author: Pier Luigi Zinzani, Rossella Santoro, Susanna Mondini, Luca Spinardi, Beatrice Casadei, Luca Faccioli, Francesca Rondelli, Francesca Bonifazi, Andrea Stracciari, Marianna Nicodemo, Umberto Pensato, Giulia Amore, Maria Guarino, Roberto D'Angelo, Rita Rinaldi, Pietro Cortelli, Andrea Farolfi, Michele Dicataldo, Susanna Sammali, Pensato U., Amore G., D'Angelo R., Rinaldi R., Nicodemo M., Rondelli F., Mondini S., Santoro R., Sammali S., Farolfi A., Spinardi L., Faccioli L., Casadei B., Dicataldo M., Bonifazi F., Zinzani P., Cortelli P., Stracciari A., and Guarino M.
Subjects: medicine.medical_specialty, Neurology, Encephalopathy, Immunotherapy, Adoptive, Short Commentary, Immune effectors cell-associated neurotoxicity syndrome (ICANS), Refractory, Neurotoxicity Syndrome, medicine, Humans, B-cell lymphoma, Neuroradiology, Anakinra, Brain Diseases, Receptors, Chimeric Antigen, business.industry, Neurotoxicity, Brain Disease, medicine.disease, CAR-T therapy, Chimeric antigen receptor, Cytokine release syndrome (CRS), Treatment Outcome, Cancer research, Neurotoxicity Syndromes, Neurology (clinical), business, Cytokine storm-associated encephalopathy (CySE), medicine.drug, Human
Abstract: Chimeric antigen receptor (CAR) T-cell therapy is an emerging highly effective treatment for refractory haematological malignancies. Unfortunately, its therapeutic benefit may be hampered by treatment-related toxicities, including neurotoxicity. Early aggressive treatment is paramount to prevent neurological sequelae, yet it potentially interferes with the anti-cancer action of CAR T-cells. We describe four CAR T-cells infused patients who presented with reiterative writing behaviours, namely paligraphia, as an early manifestation of neurotoxicity, and eventually developed frontal predominant encephalopathy (one mild, three severe). Paligraphia may represent an early, specific, and easily detectable clinical finding of CAR T-cell therapy-related neurotoxicity, potentially informing its management.
Published: 2022

7. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Subjects: Male, Genetics and heredity, amyotrophic lateral sclerosis, Neurologi, Glutamine, Medizin, Genome-wide association study, Disease, SUSCEPTIBILITY, Genome-wide association studies, DISEASE, Genètica mèdica, 0302 clinical medicine, neurodegenerative disease, genome-wide association study, ALS, gene, autophagy, Risk Factors, amyotrophic lateral sclerosi, RNA-Seq, Amyotrophic lateral sclerosis, disease-modifying therapies, blood [Cholesterol], Genetics, Genetics & Heredity, Neurons, 0303 health sciences, Medical genetics, Neurodegenerative diseases, Genome-wide association, Mendelian randomization, Frontotemporal dementia, Hexanucleotide repeat, Mutant SOD1, Metaanalysis, ALS, Susceptibility, Identification, Brain, Amyotrophic Lateral Sclerosis, Cholesterol, Disease Progression, Female, Humans, Mendelian Randomization Analysis, Microsatellite Repeats, Neurodegenerative Diseases, Quantitative Trait Loci, Genome-Wide Association Study, Mutation, MUTANT SOD1, genetics [Amyotrophic Lateral Sclerosis], medicine.anatomical_structure, Neurology, risk factor, metabolism [Neurons], MENDELIAN RANDOMIZATION, nerve cell, Life Sciences & Biomedicine, quantitative trait locu, Biology, 03 medical and health sciences, Amyotrophic lateral sclerosis -- Diagnosis, blood, ddc:570, medicine, degenerative disease, Motor neuron disease, human, Genomes, GENOME-WIDE ASSOCIATION, gene, Gene, metabolism [Glutamine], METAANALYSIS, 030304 developmental biology, Mendelian randomization analysi, Science & Technology, HEXANUCLEOTIDE REPEAT, meta analysi, IDENTIFICATION, metabolism [Amyotrophic Lateral Sclerosis], FRONTOTEMPORAL DEMENTIA, medicine.disease, metabolism [Brain], genetics [Neurodegenerative Diseases], Expression quantitative trait loci, disease exacerbation, Neuron, gemone, genetic, Vesicle-mediated transport, metabolism, Nervous system -- Degeneration, Esclerosi lateral amiotròfica, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
Published: 2021

8. The role of neurologists in the era of cancer immunotherapy: Focus on CAR T-cell therapy and immune checkpoint inhibitors

Author: Umberto Pensato, Maria Guarino, and Lorenzo Muccioli
Subjects: Neurology, Neurology (clinical)
Abstract: Cancer immunotherapy represents a novel anticancer strategy that acts directly on the immune system, promoting its activation toward cancer cells to enhance its natural ability to fight cancer. Among various treatments currently used or investigated, chimeric antigen receptors (CAR) T-cell therapy and immune checkpoint inhibitors (ICIs) have consistently proven their efficacy. These innovations are progressively improving the standard of care in cancer treatment, yet they are hampered by novel neurological adverse events, attributing to neurologists a key role in the multidisciplinary oncological team. Indeed, neurotoxicity may develop in up to 77% of patients who received CAR T-cell therapy and usually presents with encephalopathy characterized by a predominant frontal lobe dysfunction. This neurotoxicity is related to cytokine release syndrome, a systemic hyperinflammatory condition triggered by CAR T-cells. On the other hand, following treatment with ICIs, unrestrained T-cells may lead to central and peripheral neurological disorders by antigen-directed autoimmunity. Notably, biological and clinical similarities have been underlined between neurotoxicity related to CAR T-cell therapy and neurological manifestations of cytokine storms (e.g. COVID-19-related encephalopathy), as well as between a subgroup of ICI-related neurological adverse events and paraneoplastic neurological syndromes. Therefore, these cancer immunotherapy-related neurological syndromes may provide an unprecedented, perhaps transitory, opportunity to shed light on the underlying pathogenic mechanisms of a wide spectrum of neurological syndromes and to push forward our knowledge in neuroimmunology.
Published: 2022

9. Cognitive and Functional Connectivity Impairment in Post-COVID-19 Olfactory Dysfunction

Author: Lorenzo Muccioli, Giovanni Sighinolfi, Micaela Mitolo, Lorenzo Ferri, Magali Jane Rochat, Umberto Pensato, Lisa Taruffi, Claudia Testa, Marco Masullo, Pietro Cortelli, Raffaele Lodi, Rocco Liguori, Caterina Tonon, and Francesca Bisulli
Subjects: History, Neurology, Polymers and Plastics, Cognitive Neuroscience, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Business and International Management, Industrial and Manufacturing Engineering
Published: 2022

10. Clinical and radiological prognostic factors in spontaneous intracranial hypotension: a case series

Author: Umberto Pensato, Valentina Favoni, Cristina Russo, Luigi Cirillo, Pietro Cortelli, Sabina Cevoli, Giulia Pierangeli, Gian Maria Asioli, Pensato U., Russo C., Favoni V., Cirillo L., Asioli G.M., Cortelli P., Cevoli S., and Pierangeli G.
Subjects: medicine.medical_specialty, Neurology, business.industry, Intracranial Hypotension, Dermatology, General Medicine, Prognosis, postural headache, Magnetic Resonance Imaging, Radiography, Psychiatry and Mental health, Radiological weapon, Anesthesia, medicine, Humans, Spontaneous Intracranial Hypotension, Neurology (clinical), Postural headache, Neurosurgery, business, MRI, Neuroradiology
Abstract: Spontaneous intracranial hypotension (SIH) results from low cerebrospinal fluid (CSF) volume, typically secondary to a spinal CSF leak. CSF hypovolemia leads to brain sagging, particularly in orthostatic position, and expansion of the intracranial venous compartment. These pathophysiological mechanisms are responsible for the clinical presentation that usually consists of postural headache variably associated with other neurological symptoms. The wide range of clinical manifestations, including the absence of typical headache, may delay diagnosis. Magnetic resonance imaging (MRI) supports diagnosis showing typical findings including subdural fluid collections, pachymeningeal enhancement and brain sagging.
Published: 2020

11. Burden and attitude to resistant and refractory migraine: a survey from the European Headache Federation with the endorsement of the European MigraineHeadache Alliance

Author: Sacco S., Lampl C., Maassen van den Brink A., Caponnetto V., Braschinsky M., Ducros A., Little P., Pozo-Rosich P., Reuter U., Ruiz de la Torre E., Sanchez Del Rio M., Sinclair A. J., Martelletti P., Katsarava Z., Cakciri G., Djamandi P., Grabova S., Halili G., Kruja J., Kuqo A., Naco D., Quka A., Stefanidhi L., Vyshka G., Zekja I., Bruera O., Gomez D., Guitian B., Roma J. C., Chen I. L., Bashirova S., Linkov M., Van Den Abbeele D., Vanderschueren G., Araujo R., Arruda R., Catharino A., Ciriaco J., Dalla Corte A., Dornas R., Felsenfeld B., Fonseca Taufner A., Fragoso Y., Hurtado R., Isoni Martins D., Londero R., Melo L., Mignoni K. S., Sgobbi De Souza P. V., Souza M. N., Osman S., Baltzer V., Pacheco Mosquera L. F., Dubroja I., Hucika Z., Lisak M., Lovrencic-Huzjan A., Lusic I., Mahovic Lakusic D., Mikulenka P., Rehulka P., Amin F. M., Antic S., Fakhril-Din Z., Moeller-Hansen J., Munksgaard S., Nan A. M., Pellesi L., Schytz H., Vides M., Braschinsky K., Krikmann U., Roos C., Cauchie A., Christian L., Guegan-Massardier E., Demarquay G., Gilles G., Mawet J., Kuhn E., Lanteri Minet M., Bustuchina Vlaicu M., Moisset X., Muresan M., Najjar-Ravan M., Giraud P., Simonin S., De Gaalon S., Chakhava G., Demuria M., Gegelashvili G., Kapanadze N., Antonakakis A., Gaul C., Forderreuther S., Huhn J. -I., Ibragimov S., Kamm K., Raffaelli B., Czaniera R., Ruscheweyh R., Gavanozi E., Karagiorgis G., Mavridism T., Ertsey C., Shubham D., Callista Tanowi A. D., Erdana Putra S., Hadi D. W., Kurnia L., Nasrul M., Albanese M., Antonaci F., Asioli G. M., Baschi R., Bentivegna E., Brunelli N., Caratozzolo S., Catarci T., Cherchi A., Corbelli I., Costa A., De Luca C., Doretti A., Favoni V., Ghiotto N., Giamberardino M. A., Giani L., Zanchin G., Govone F., Grillo G., Mampreso E., Negro A., Ornello R., Pasculli M., Pensato U., Prudenzano M. P. A., Quintana S., Rapisarda R., Romoli M., Russo A., Russo M., Spuntarelli V., Tiseo C., Torrente A., Vacca A., Vaula G., Vigano A., Vigneri S., Freimane A., Slosberga E., Zvaune L., Tan H. J., Fenech C., Cobilt-Catana R., De La Garza Neme Y., Martinez M., Proano Narvaez J. V., Rodriguez Herrera A., Vazquez D., Grosu O., Jakupi A., Kristoffersen E. S., Tronvik E., Winsvold B. S., Azhar M., Reyes Alvarez M. T., Vilchez Fernandez L., Dayrit G. D., Czapinska-Ciepiela E. K., Fila M., Gryglas-Dworak A., Couto M., Esperanca P., Ferreira A., Gil-Gouveia R., Goncalves A., Lopes M., Lourenco M., Machado J., Marinho M., Miranda M. A., Palavra F., Parreira E., Pavao Martins I., Pereira L., Pereira Monteiro J. M., Leahu P., Aloman S., Abramova E., Akhmadeeva L., Belopasova A., Bogdanova I., Chernyak M., Epifanova M., Fedorova E., Felbush A., Karpova M., Korobkova D., Korotkova D., Latysheva N., Makeeva T., Mikhalkina K., Osipova V., Roshchina O., Serga A., Serousova O. V., Sidorova Y., Skiba I., Skorobogatykh K., Vashchenko N., Apostolski S., Buder N., Kopitovic A., Mirjana J., Podgorac A., Rakic D., Simic S., Zarko M., Trajkovic J. Z., Beltran-Blasco I., Calabria Gallego M. D., Diaz Insa S., Ezpeleta D., Fernandez M., Garcia-Azorin D., Gonzalez-Garcia N., Guerrero A. L., Guillamon E., Herreros Rodriguez J., Layos-Romero A., Medrano V., Minguez-Olaondo A., Navarro Munoz S., Pare Curell M., Ruibal M., Sanchez Alvarez J. M., Santos S., Soler R., Viguera J., Zabalza R., Abdelrahman T., Abobaker Hamza S. B., Mustafa M. N., Edvinsson L., Gantenbein A., Maraffi I., Couturier E., Dirkx T., Hoebert M., Van Oosterhout W., Wim M., Zwartbol R., Bakir M., Demirel H., Erdemoglu A. K., Ertem D. H., Gonullu S., Ilgaz Aydinlar E., Inan L. E., Olmez B., Ozbenli T., Ozge A., Uluduz D., Uyar Cankay T., Yalinay Dikmen P., Saxena A. B., Bozhenko M., Bozhenko N., Bubnov R., Tsurkalenko O., Abu-Arafeh I., Idrovo L., Miller S., Nirmalananthan N., Sinclair A., Taleti E., Valori A., Whitehouse W., Zermansky A., Thura M., Institut Català de la Salut, [Sacco S, Caponnetto V] Neuroscience section – Department of Biotechnological and Applied Clinical Sciences and (Edificio Coppito 2), University of L’Aquila, Via Vetoio, 67100 L’Aquila, Italy. Regional Referral Headache Center of the Abruzzo Region, ASL Avezzano-Sulmona-L’Aquila, L’Aquila, Italy. [Lampl C] Department of Neurology, Headache Medical Centre Linz, Hospital Barmherzige Brüder, Centre of Integrative Medicine (ZiAM) Ordensklinikum Linz, Linz, Austria. [Maassen van den Brink A] Division of Pharmacology, Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. [Braschinsky M] Headache Clinic, Department of Neurology, Tartu University Clinics, Tartu, Estonia. [Ducros A] Headache Unit, Neurology Department, Montpellier University Hospital and Montpellier University, Montpellier, France. [Pozo-Rosich P] Unitat de Cefalea, Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup d'Investigació en Cefalees i Dolors Neurològics, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Sacco, S., Lampl, C., Maassen van den Brink, A., Caponnetto, V., Braschinsky, M., Ducros, A., Little, P., Pozo-Rosich, P., Reuter, U., Ruiz de la Torre, E., Sanchez Del Rio, M., Sinclair, A. J., Martelletti, P., Katsarava, Z., Cakciri, G., Djamandi, P., Grabova, S., Halili, G., Kruja, J., Kuqo, A., Naco, D., Quka, A., Stefanidhi, L., Vyshka, G., Zekja, I., Bruera, O., Gomez, D., Guitian, B., Roma, J. C., Chen, I. L., Bashirova, S., Linkov, M., Van Den Abbeele, D., Vanderschueren, G., Araujo, R., Arruda, R., Catharino, A., Ciriaco, J., Dalla Corte, A., Dornas, R., Felsenfeld, B., Fonseca Taufner, A., Fragoso, Y., Hurtado, R., Isoni Martins, D., Londero, R., Melo, L., Mignoni, K. S., Sgobbi De Souza, P. V., Souza, M. N., Osman, S., Baltzer, V., Pacheco Mosquera, L. F., Dubroja, I., Hucika, Z., Lisak, M., Lovrencic-Huzjan, A., Lusic, I., Mahovic Lakusic, D., Mikulenka, P., Rehulka, P., Amin, F. M., Antic, S., Fakhril-Din, Z., Moeller-Hansen, J., Munksgaard, S., Nan, A. M., Pellesi, L., Schytz, H., Vides, M., Braschinsky, K., Krikmann, U., Roos, C., Cauchie, A., Christian, L., Guegan-Massardier, E., Demarquay, G., Gilles, G., Mawet, J., Kuhn, E., Lanteri Minet, M., Bustuchina Vlaicu, M., Moisset, X., Muresan, M., Najjar-Ravan, M., Giraud, P., Simonin, S., De Gaalon, S., Chakhava, G., Demuria, M., Gegelashvili, G., Kapanadze, N., Antonakakis, A., Gaul, C., Forderreuther, S., Huhn, J. -I., Ibragimov, S., Kamm, K., Raffaelli, B., Czaniera, R., Ruscheweyh, R., Gavanozi, E., Karagiorgis, G., Mavridism, T., Ertsey, C., Shubham, D., Callista Tanowi, A. D., Erdana Putra, S., Hadi, D. W., Kurnia, L., Nasrul, M., Albanese, M., Antonaci, F., Asioli, G. M., Baschi, R., Bentivegna, E., Brunelli, N., Caratozzolo, S., Catarci, T., Cherchi, A., Corbelli, I., Costa, A., De Luca, C., Doretti, A., Favoni, V., Ghiotto, N., Giamberardino, M. A., Giani, L., Zanchin, G., Govone, F., Grillo, G., Mampreso, E., Negro, A., Ornello, R., Pasculli, M., Pensato, U., Prudenzano, M. P. A., Quintana, S., Rapisarda, R., Romoli, M., Russo, A., Russo, M., Spuntarelli, V., Tiseo, C., Torrente, A., Vacca, A., Vaula, G., Vigano, A., Vigneri, S., Freimane, A., Slosberga, E., Zvaune, L., Tan, H. J., Fenech, C., Cobilt-Catana, R., De La Garza Neme, Y., Martinez, M., Proano Narvaez, J. V., Rodriguez Herrera, A., Vazquez, D., Grosu, O., Jakupi, A., Kristoffersen, E. S., Tronvik, E., Winsvold, B. S., Azhar, M., Reyes Alvarez, M. T., Vilchez Fernandez, L., Dayrit, G. D., Czapinska-Ciepiela, E. K., Fila, M., Gryglas-Dworak, A., Couto, M., Esperanca, P., Ferreira, A., Gil-Gouveia, R., Goncalves, A., Lopes, M., Lourenco, M., Machado, J., Marinho, M., Miranda, M. A., Palavra, F., Parreira, E., Pavao Martins, I., Pereira, L., Pereira Monteiro, J. M., Leahu, P., Aloman, S., Abramova, E., Akhmadeeva, L., Belopasova, A., Bogdanova, I., Chernyak, M., Epifanova, M., Fedorova, E., Felbush, A., Karpova, M., Korobkova, D., Korotkova, D., Latysheva, N., Makeeva, T., Mikhalkina, K., Osipova, V., Roshchina, O., Serga, A., Serousova, O. V., Sidorova, Y., Skiba, I., Skorobogatykh, K., Vashchenko, N., Apostolski, S., Buder, N., Kopitovic, A., Mirjana, J., Podgorac, A., Rakic, D., Simic, S., Zarko, M., Trajkovic, J. Z., Beltran-Blasco, I., Calabria Gallego, M. D., Diaz Insa, S., Ezpeleta, D., Fernandez, M., Garcia-Azorin, D., Gonzalez-Garcia, N., Guerrero, A. L., Guillamon, E., Herreros Rodriguez, J., Layos-Romero, A., Medrano, V., Minguez-Olaondo, A., Navarro Munoz, S., Pare Curell, M., Ruibal, M., Sanchez Alvarez, J. M., Santos, S., Soler, R., Viguera, J., Zabalza, R., Abdelrahman, T., Abobaker Hamza, S. B., Mustafa, M. N., Edvinsson, L., Gantenbein, A., Maraffi, I., Couturier, E., Dirkx, T., Hoebert, M., Van Oosterhout, W., Wim, M., Zwartbol, R., Bakir, M., Demirel, H., Erdemoglu, A. K., Ertem, D. H., Gonullu, S., Ilgaz Aydinlar, E., Inan, L. E., Olmez, B., Ozbenli, T., Ozge, A., Uluduz, D., Uyar Cankay, T., Yalinay Dikmen, P., Saxena, A. B., Bozhenko, M., Bozhenko, N., Bubnov, R., Tsurkalenko, O., Abu-Arafeh, I., Idrovo, L., Miller, S., Nirmalananthan, N., Sinclair, A., Taleti, E., Valori, A., Whitehouse, W., Zermansky, A., Thura, M., and Internal Medicine
Subjects: Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], medicine.medical_specialty, Pediatrics, Neurology, Consensus, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::trastornos con cefaleas::cefaleas primarias::trastornos migrañosos [ENFERMEDADES], migraine, migraine care, refractory migraine, resistant migraine, consensus, cross-sectional studies, headache, humans, surveys and questionnaires, migraine disorders, Pain medicine, Moderate confidence, Migraine Disorders, Medizin, Consensu, Migranya - Tractament, Qüestionaris, Refractory, Surveys and Questionnaires, medicine, Surveys and Questionnaire, Humans, Clinical significance, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Headache Disorders::Headache Disorders, Primary::Migraine Disorders [DISEASES], Otros calificadores::/terapia [Otros calificadores], Migraine, Cross-Sectional Studie, business.industry, Headache, técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], General Medicine, Other subheadings::/therapy [Other subheadings], medicine.disease, Refractory migraine, Anesthesiology and Pain Medicine, Cross-Sectional Studies, Burden, Medicine, Neurology (clinical), Level of care, business, Resistant migraine, Migraine care, Human, Research Article
Abstract: Background New treatments are currently offering new opportunities and challenges in clinical management and research in the migraine field. There is the need of homogenous criteria to identify candidates for treatment escalation as well as of reliable criteria to identify refractoriness to treatment. To overcome those issues, the European Headache Federation (EHF) issued a Consensus document to propose criteria to approach difficult-to-treat migraine patients in a standardized way. The Consensus proposed well-defined criteria for resistant migraine (i.e., patients who do not respond to some treatment but who have residual therapeutic opportunities) and refractory migraine (i.e., patients who still have debilitating migraine despite maximal treatment efforts). The aim of this study was to better understand the perceived impact of resistant and refractory migraine and the attitude of physicians involved in migraine care toward those conditions. Methods We conducted a web-questionnaire-based cross-sectional international study involving physicians with interest in headache care. Results There were 277 questionnaires available for analysis. A relevant proportion of participants reported that patients with resistant and refractory migraine were frequently seen in their clinical practice (49.5% for resistant and 28.9% for refractory migraine); percentages were higher when considering only those working in specialized headache centers (75% and 46% respectively). However, many physicians reported low or moderate confidence in managing resistant (8.1% and 43.3%, respectively) and refractory (20.7% and 48.4%, respectively) migraine patients; confidence in treating resistant and refractory migraine patients was different according to the level of care and to the number of patients visited per week. Patients with resistant and refractory migraine were infrequently referred to more specialized centers (12% and 19%, respectively); also in this case, figures were different according to the level of care. Conclusions This report highlights the clinical relevance of difficult-to-treat migraine and the presence of unmet needs in this field. There is the need of more evidence regarding the management of those patients and clear guidance referring to the organization of care and available opportunities.
Published: 2021

12. Do anti-CGRP drugs have a role in migraine aura therapy?

Author: Valentina Favoni, Umberto Pensato, Eleonora Matteo, Sabina Cevoli, Giulia Giannini, Giulia Pierangeli, Matteo E., Pensato U., Favoni V., Giannini G., Pierangeli G., and Cevoli S.
Subjects: medicine.medical_specialty, Neurology, Epilepsy, business.industry, Calcitonin Gene-Related Peptide, Migraine with Aura, MEDLINE, Calcitonin gene-related peptide, Bioinformatics, Pharmaceutical Preparations, medicine, Humans, Neurology (clinical), business, Migraine aura, Neuroradiology, Human
Published: 2021

13. The domino effect of acephalgic spontaneous intracranial hypotension

Author: Salvatore Isceri, Andrea Zini, Umberto Pensato, Luigi Simonetti, Mauro Gentile, Luigi Cirillo, Laura Piccolo, Anna Zaniboni, Giorgia Arnone, Fabrizio Giammello, Tommaso Baldini, and Pensato U., Giammello F., Baldini T., Zaniboni A., Piccolo L., Arnone G., Gentile M., Cirillo L., Simonetti L., Isceri S., Zini A
Subjects: medicine.medical_specialty, Deep brain swelling, Neurology, Cerebral venous thrombosi, Intracranial Hypotension, Dermatology, Midbrain, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, CSF leak, Midbrain swelling, Neuroradiology, Coma, Epidural blood patch, Orthostatic headache, business.industry, Headache, General Medicine, medicine.disease, Spine, Blood Patch, Psychiatry and Mental health, Venous thrombosis, Cerebral venous thrombosis, Anesthesia, Epidural, Neurology (clinical), Neurosurgery, medicine.symptom, Intracranial Thrombosis, business, Blood Patch, Epidural, 030217 neurology & neurosurgery
Abstract: Spontaneous intracranial hypotension results from a spinal CSF leak and usually presents with orthostatic headache, although acephalgic presentations have anecdotally been reported. The underlying low CSF volume, rarely, leads to serious complications such as cerebral venous thrombosis and coma. We report a patient presenting with cerebral venous thrombosis secondary to acephalgic spontaneous intracranial hypotension. An epidural blood patch was performed; nonetheless, the patient intracracal condition deteriorated to coma and neuroimages showed a deep brain swelling with midbrain distortion, subsequently complicated by intracranial pontine hemorrhage. © 2020, Fondazione Società Italiana di Neurologia.
Published: 2021

14. Intravenous immunoglobulin therapy in COVID-19-related encephalopathy

Author: Francesca Bisulli, Caterina Tonon, Giorgia Bernabè, Sabina Cevoli, Ilaria Cani, Umberto Pensato, Gloria Stofella, Lilia Volpi, Simone Vidale, Francesca Ceccaroni, Lorenzo Ferri, Roberto Michelucci, Olivia J. Henry, Rocco Liguori, Lorenzo Muccioli, Paolo Tinuper, Giacomo Fornaro, Maria Tappatà, Elena Pasini, Pietro Cortelli, Muccioli L., Pensato U., Bernabe G., Ferri L., Tappata M., Volpi L., Cani I., Henry O.J., Ceccaroni F., Cevoli S., Stofella G., Pasini E., Fornaro G., Tonon C., Vidale S., Liguori R., Tinuper P., Michelucci R., Cortelli P., and Bisulli F.
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurology, Constitutional symptoms, medicine.medical_treatment, Encephalopathy, Clinical Neurology, 03 medical and health sciences, 0302 clinical medicine, Intravenous Immunoglobulin Therapy, medicine, Humans, Adverse effect, Aged, Retrospective Studies, Mechanical ventilation, IVig, Brain Diseases, Original Communication, Respiratory distress, business.industry, SARS-CoV-2, Immunoglobulins, Intravenous, medicine.disease, encephalopathy, 030104 developmental biology, Delirium, Female, Neurology (clinical), medicine.symptom, business, Covid-19, 030217 neurology & neurosurgery
Abstract: Objective To report on efficacy and safety of intravenous immunoglobulin (IVIg) therapy in a case series of patients with COVID-19-related encephalopathy. Methods We retrospectively collected data on all patients with COVID-19 hospitalized at two Italian hospitals who developed encephalopathy during disease course and were treated with IVIg. Results Five patients (two females, mean age 66.8 years) developed encephalopathy after a mean of 12.6 days, since the onset of respiratory/constitutional symptoms related to COVID-19. Four patients suffered severe respiratory distress, three of which required invasive mechanical ventilation. Neurological manifestations included impaired consciousness, agitation, delirium, pyramidal and extrapyramidal signs. EEG demonstrated diffuse slowing in all patients. Brain MRI showed non-specific findings. CSF analysis revealed normal cell count and protein levels. In all subjects, RT-PCR for SARS-CoV-2 in CSF tested negative. IVIg at 0.4 g/kg/die was commenced 29.8 days (mean, range: 19–55 days) after encephalopathy onset, leading to complete electroclinical recovery in all patients, with an initial improvement of neuropsychiatric symptoms observed in 3.4 days (mean, range: 1–10 days). No adverse events related to IVIg were observed. Conclusions Our preliminary findings suggest that IVIg may represent a safe and effective treatment for COVID-19-associated encephalopathy. Clinical efficacy may be driven by the anti-inflammatory action of IVIg, associated with its anti-cytokine qualities.
Published: 2021

15. Clinical Reasoning: A 79-Year-Old Woman With Subacute Bilateral Visual Loss

Author: Umberto Pensato, Maria Guarino, Roberto D'Angelo, Giulia Amore, Rita Rinaldi, Pietro Cortelli, Simone Rossi, Rossi S., Amore G., Pensato U., D'Angelo R., Rinaldi R., Guarino M., and Cortelli P.
Subjects: medicine.medical_specialty, Intraocular pressure, genetic structures, Cyclophosphamide, Color vision, medicine.medical_treatment, Vision Disorders, Clinical Reasoning, Sensation, medicine, Humans, Medical history, Aged, Chemotherapy, business.industry, Cranial nerves, eye diseases, Surgery, Neurology, Female, sense organs, Neurology (clinical), business, Mastectomy, medicine.drug, Human
Abstract: A 79-year-old woman presented with a 10-day history of rapidly progressive bilateral visual loss with more prominent involvement of the right eye. Her medical history was significant for an infiltrative breast carcinoma treated with mastectomy and chemotherapy (cyclophosphamide, doxorubicin, and paclitaxel) 1 year before, complicated by bilateral foot paresthesias and decreased sensation. The patient achieved complete remission from cancer and maintained regular oncologic follow-up. On admission, vision was limited to hand motion in the right eye and markedly reduced in the left eye (20/50), so that she was unable to read. Color vision was untestable in the right eye and remained intact in the left eye. A right relative afferent pupillary defect (RAPD) was observed. Intraocular pressure was normal, whereas funduscopic evaluation revealed bilateral optic disc swelling. Extraocular movements were full and not painful and other cranial nerves were intact. The rest of the neurologic examination was unrevealing, apart from signs of a distal symmetric sensory polyneuropathy.
Published: 2021

16. VP.52 Identification of a novel cytokine profile in serum and CSF of pediatric and adult SMA patients and its modulation upon nusinersen treatment

Author: S. Bonanno, P. Cavalcante, E. Salvi, E. Giagnorio, C. Malacarne, M. Cattaneo, F. Andreetta, A. Venerando, V. Pensato, C. Gellera, R. Zanin, C. Dosi, R. Masson, R. Mantegazza, L. Maggi, and S. Marcuzzo
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2022

17. The unforgivable curse of Harry Potter's thunderclap headaches

Author: Eleonora Matteo, Sabina Cevoli, and Umberto Pensato
Subjects: Male, medicine.medical_specialty, Curse, Subarachnoid hemorrhage, Headache Disorders, Primary, business.industry, Medicine in Literature, Harry potter, Diagnostic Techniques, Neurological, Subarachnoid Hemorrhage, medicine.disease, Reversible cerebral vasoconstriction syndrome, Neurology, Internal medicine, medicine, Cardiology, Spontaneous Intracranial Hypotension, Humans, Vasospasm, Intracranial, Neurology (clinical), business, Child, Thunderclap headaches
Published: 2021

18. Erenumab efficacy in highly resistant chronic migraine: a real-life study

Author: Alessia Pascazio, Sabina Cevoli, Matteo Benini, Giulia Pierangeli, Gian Maria Asioli, Umberto Pensato, Pietro Cortelli, Valentina Favoni, Calogero Calabrò, Elena Merli, Pensato U., Favoni V., Pascazio A., Benini M., Asioli G.M., Merli E., Calabro C., Cortelli P., Pierangeli G., and Cevoli S.
Subjects: medicine.medical_specialty, Pediatrics, Neurology, business.industry, Migraine Disorders, MEDLINE, Dermatology, General Medicine, Antibodies, Monoclonal, Humanized, Psychiatry and Mental health, Chronic Migraine, Calcitonin Gene-Related Peptide Receptor Antagonists, Monoclonal, medicine, Humans, Neurology (clinical), Neurosurgery, chronic migraine, Life study, business, Erenumab, Neuroradiology
Abstract: n.a.
Published: 2020

19. COVID‐19–Associated Encephalopathy and Cytokine‐Mediated Neuroinflammation

Author: Ilaria Cani, Umberto Pensato, Maria Guarino, Pietro Cortelli, Francesca Bisulli, Lorenzo Muccioli, Muccioli L., Pensato U., Cani I., Guarino M., Cortelli P., and Bisulli F.
Subjects: 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Betacoronaviru, Pandemic, business.industry, Coronavirus Infection, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), medicine.medical_treatment, Encephalopathy, Coronaviru, Pneumonia, Viral, Clinical Neurology, medicine.disease, Cytokine, Neurology, Encephaliti, Immunology, medicine, Neurology (clinical), Car t cells, business, Coronavirus Infections, Neuroinflammation, Human
Published: 2020
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20. EEG findings in COVID-19 related encephalopathy

Author: Umberto Pensato, Patrizia Riguzzi, Francesca Bisulli, Roberto Michelucci, Paolo Tinuper, Lilia Volpi, Lorenzo Muccioli, Irene Minardi, Maria Tappatà, Elena Pasini, Pasini E., Bisulli F., Volpi L., Minardi I., Tappata M., Muccioli L., Pensato U., Riguzzi P., Tinuper P., and Michelucci R.
Subjects: Male, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Encephalopathy, Pneumonia, Viral, Clinical Neurology, Electroencephalography, Article, Betacoronavirus, Physiology (medical), Pandemic, medicine, Humans, Pandemics, Aged, biology, medicine.diagnostic_test, Betacoronaviru, SARS-CoV-2, business.industry, Coronavirus Infection, COVID-19, Middle Aged, medicine.disease, biology.organism_classification, Virology, Sensory Systems, Pneumonia, Neurology, Central Nervous System Viral Disease, EEG Findings, Central Nervous System Viral Diseases, Female, Neurology (clinical), Symptom Assessment, Coronavirus Infections, business, Human
Published: 2020

21. COVID-19-related encephalopathy presenting with aphasia resolving following tocilizumab treatment

Author: Ilaria Cani, Umberto Pensato, Federica Provini, Luca Guerra, Francesca Bisulli, Raffaele Lodi, Lorenzo Muccioli, Luca Albini Riccioli, Paolo Tinuper, Giorgio Bordin, Muccioli L., Pensato U., Cani I., Guerra L., Provini F., Bordin G., Riccioli L.A., Lodi R., Tinuper P., and Bisulli F.
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Short Communication, Immunology, Encephalopathy, SARS-COV-2, Electroencephalography, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Aphasia, Encephaliti, medicine, Immunology and Allergy, Humans, Cytokine, Brain Diseases, medicine.diagnostic_test, business.industry, COVID-19, Delirium, Middle Aged, medicine.disease, COVID-19 Drug Treatment, 030104 developmental biology, Expressive aphasia, Neurology, chemistry, Frontal lobe, Neurological, Encephalitis, Cytokines, Female, Neurology (clinical), Immunotherapy, medicine.symptom, Complication, business, Cytokine Release Syndrome, 030217 neurology & neurosurgery
Abstract: Encephalopathy is emerging as a recurrent complication of COVID-19 yet remains poorly characterized. We report the case of a middle-aged woman with COVID-19-related encephalopathy presenting as expressive aphasia and inattentiveness, subsequently progressing to agitation and marked confusion. Brain MRI and CSF analysis were unremarkable, while EEG showed slowing with frontal sharp waves. Neuropsychiatric symptoms resolved following treatment with tocilizumab. CNS involvement in COVID-19 may present as a subacute encephalopathy characterized by prominent frontal lobe dysfunction, with language disturbances as first neurological manifestation. Future studies should further investigate the role of tocilizumab in treating COVID-19-related encephalopathy., Graphical abstract Unlabelled Image, Highlights • CNS involvement in COVID-19 may present as a subacute encephalopathy. • COVID-19-related encephalopathy may present with early language disturbances. • Cytokine-mediated neuroinflammation has been suggested as the underlying mechanism. • Tocilizumab has shown efficacy in treating cytokine release syndrome. • In our patient, neuropsychiatric symptoms resolved following tocilizumab therapy.
Published: 2020

22. Room tilt illusion and persistent hiccups as presenting symptoms of a left PICA stroke: a case report

Author: Rita Rinaldi, Umberto Pensato, Maria Guarino, Roberto D'Angelo, Pietro Cortelli, Pensato U., D'Angelo R., Rinaldi R., Guarino M., and Cortelli P.
Subjects: medicine.medical_specialty, Neurology, Tilt illusion, business.industry, Dermatology, General Medicine, medicine.disease, stroke, Psychiatry and Mental health, Physical medicine and rehabilitation, Medicine, Neurology (clinical), Pica (disorder), Neurosurgery, medicine.symptom, business, Stroke, Hiccups, Neuroradiology
Abstract: n.a.
Published: 2019

23. Asymptomatic adrenoleukodystrophy in elderly males

Author: Ettore Salsano, Davide Pareyson, Chiara Benzoni, Cinzia Gellera, Silvia Fenu, Elena Mauro, and Viviana Pensato
Subjects: medicine.medical_specialty, Pediatrics, Neurology, business.industry, ATP-binding cassette transporter, medicine.disease, Asymptomatic, Medicine, Adrenoleukodystrophy, Neurology (clinical), medicine.symptom, business, Neuroradiology
Published: 2020

24. Correction to: Fulminant cerebral edema following CAR T-cell therapy: case report and pathophysiological insights from literature review

Author: Umberto Pensato, Lorenzo Muccioli, Pierluigi Zinzani, Roberto D’Angelo, Elisabetta Pierucci, Beatrice Casadei, Michele Dicataldo, Serena De Matteis, Pietro Cortelli, Francesca Bonifazi, and Maria Guarino
Subjects: Neurology, Neurology (clinical)
Published: 2022

25. Clinicoradiological Profile and Functional Outcome of Acute Cerebral Venous Thrombosis: A Hospital-Based Cohort Study

Author: Umberto Pensato, Maria Guarino, Valentina Barone, Elisabetta Favaretto, Rita Rinaldi, Francesca Rondelli, Lucia Pavolucci, Giulia Amore, Matteo Benini, Luca Spinardi, Matteo Foschi, Luca Favero, and Michele Russo
Subjects: medicine.medical_specialty, neuroimaging, business.industry, General Engineering, cerebral venous thrombosis, Odds ratio, Emergency department, medicine.disease, Thrombosis, Venous thrombosis, Neurology, Modified Rankin Scale, Concomitant, Internal medicine, headache, outcome, prognosis, medicine, Emergency Medicine, business, Superior sagittal sinus, Straight sinus
Abstract: Introduction Acute cerebral venous thrombosis (CVT) may result in a variety of clinical presentations, with headache being the most common. The relationship between clinical and neuroradiological characteristics in acute CVT patients is still not univocally characterized. Materials and methods We enrolled 32 consecutive acute CVT patients admitted to our emergency department from January 1, 2012, to June 30, 2019. Clinicoradiological associations and their relationship with the functional outcome at the discharge were tested. Results Headache was the presenting symptom in 85% of patients, more frequently subacute (82%), new-onset (67%), with unusual features in respect to prior headache episodes (100%), and associated with concomitant neurological symptoms/signs (74%). Patients with holocranial headache showed more frequent venous ischemia (VI) compared to those with bilateral and unilateral headache (50% vs. 20% vs. 0%, respectively; p=0.027). Patients with concomitant neurological defects had a higher prevalence of VI (50.0% vs. 15.0%; p=0.049) and superior sagittal sinus thrombosis (67% vs. 30%; p=0.043) than those without. Vomit was more frequently observed in patients with straight sinus thrombosis (67% vs. 8%; p=0.005). Increasing age and VI were independently associated with poor (modified Rankin scale (mRS) 2-5) functional outcome (odds ratio (OR) = 1.081, 95% confidence interval (CI) 1.004-1.165; p=0.038 and OR = 12.089, 95% CI 1.141-128.104; p=0.039, respectively). Conclusions Our study confirms and enriches available data on the clinicoradiological profile of patients with acute CVT and suggests that increasing age and venous ischemia are independently associated with poor outcomes.
Published: 2021

26. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

Author: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, James B. Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chiò, J. Raphael Gibbs, Clifton L. Dalgard, Sonja W. Scholz, Bryan J. Traynor, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel N. Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, José Luis Muñoz-Blanco, Zorica Stevic, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Kevin B. Boylan, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Christopher E. Shaw, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, H. Brittain, Mark J. Caulfield, Georgia C. Chan, Clare E.H. Craig, Louise C. Daugherty, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió-Tarí, Joanne M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James E. Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, Daniel Perez-Gil, Dimitris Polychronopoulos, John Pullinger, Tahrima Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Ellen R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki, Sampath Arepalli, Pavan Auluck, Robert H. Baloh, Robert Bowser, Alexis Brice, James Broach, William Camu, John Cooper-Knock, Philippe Corcia, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Faraz Faghri, Jennifer Farren, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Stephen A. Goutman, Terry D. Heiman-Patterson, Dena G. Hernandez, Ben Hoover, Lilja Jansson, Freya Kamel, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel JL. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Wim Robberecht, Ian Robey, Ekaterina Rogaeva, Jeffrey D. Rothstein, Michael Sendtner, Katie C. Sidle, Zachary Simmons, David J. Stone, Pentti J. Tienari, John Q. Trojanowski, Juan C. Troncoso, Miko Valori, Philip Van Damme, Ludo Van Den Bosch, Lorne Zinman, Diego Albani, Barbara Borroni, Alessandro Padovani, Amalia Bruni, Jordi Clarimon, Oriol Dols-Icardo, Ignacio Illán-Gala, Alberto Lleó, Adrian Danek, Daniela Galimberti, Elio Scarpini, Maria Serpente, Caroline Graff, Huei-Hsin Chiang, Behzad Khoshnood, Linn Öijerstedt, Christopher M. Morris, Benedetta Nacmias, Sandro Sorbi, Jorgen E. Nielsen, Lynne E. Hjermind, Valeria Novelli, Annibale A. Puca, Pau Pastor, Ignacio Alvarez, Monica Diez-Fairen, Miquel Aguilar, Robert Perneczky, Janine Diehl-Schimd, Mina Rossi, Agustin Ruiz, Mercè Boada, Isabel Hernández, Sonia Moreno-Grau, Johannes C. Schlachetzki, Dag Aarsland, Marilyn S. Albert, Johannes Attems, Matthew J. Barrett, Thomas G. Beach, Lynn M. Bekris, David A. Bennett, Lilah M. Besser, Eileen H. Bigio, Sandra E. Black, Bradley F. Boeve, Ryan C. Bohannan, Francesca Brett, Maura Brunetti, Chad A. Caraway, Jose-Alberto Palma, Andrea Calvo, Antonio Canosa, Dennis Dickson, Charles Duyckaerts, Kelley Faber, Tanis Ferman, Margaret E. Flanagan, Gianluca Floris, Tatiana M. Foroud, Juan Fortea, Ziv Gan-Or, Steve Gentleman, Bernardino Ghetti, Jesse Raphael Gibbs, Alison Goate, David Goldstein, Isabel González-Aramburu, Neill R. Graff-Radford, Angela K. Hodges, Heng-Chen Hu, Daniel Hupalo, Jon Infante, Alex Iranzo, Scott M. Kaiser, Horacio Kaufmann, Julia Keith, Ronald C. Kim, Gregory Klein, Rejko Krüger, Walter Kukull, Amanda Kuzma, Carmen Lage, Suzanne Lesage, James B. Leverenz, Giancarlo Logroscino, Grisel Lopez, Seth Love, Qinwen Mao, Maria Jose Marti, Elisa Martinez-McGrath, Mario Masellis, Eliezer Masliah, Patrick May, Ian McKeith, Marek-Marsel Mesulam, Edwin S. Monuki, Kathy L. Newell, Lucy Norcliffe-Kaufmann, Laura Palmer, Matthew Perkins, Olga Pletnikova, Laura Molina-Porcel, Regina H. Reynolds, Eloy Rodríguez-Rodríguez, Jonathan D. Rohrer, Pascual Sanchez-Juan, Clemens R. Scherzer, Geidy E. Serrano, Vikram Shakkottai, Ellen Sidransky, Nahid Tayebi, Alan J. Thomas, Bension S. Tilley, Ronald L. Walton, Randy Woltjer, Zbigniew K. Wszolek, Georgia Xiromerisiou, Chiara Zecca, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Neil A. Shneider, Ernest Fraenkel, Noah Zaitlen, James D. Berry, Andrea Malaspina, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris Broce, Vivian Drory, John Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steven Altschuler, Khaled Amar, Neil Archibald, Oliver Bandmann, Erica Capps, Alistair Church, Jan Coebergh, Alyssa Costantini, Peter Critchley, Boyd CP. Ghosh, Michele T.M. Hu, Christopher Kobylecki, P. Nigel Leigh, Carl Mann, Luke A. Massey, Uma Nath, Nicola Pavese, Dominic Paviour, Jagdish Sharma, Jenny Vaughan, HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, Clinicum, Pentti Tienari / Principal Investigator, Parkinson's UK, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Pathology, ANS - Cellular & Molecular Mechanisms, AII - Inflammatory diseases, Universidad de Cantabria, Rowe, James [0000-0001-7216-8679], and Apollo - University of Cambridge Repository
Subjects: 0301 basic medicine, Huntington's Disease, Pathology, amyotrophic lateral sclerosis, Huntingtin, Neurology, 1702 Cognitive Sciences, International ALS/FTD Genomics Consortium, Neurodegenerative, frontotemporal dementia, 3124 Neurology and psychiatry, 0302 clinical medicine, Medicine, 2.1 Biological and endogenous factors, Psychology, Amyotrophic lateral sclerosis, Aetiology, Alzheimer's Disease Related Dementias (ADRD), NYGC ALS Consortium, Huntingtin Protein, DNA Repeat Expansion, General Neuroscience, Frontotemporal Dementia (FTD), International FTD Genetics Consortium, whole-genome sequencing, Frontotemporal Dementia, Neurological, Cognitive Sciences, Lewy body dementia, huntingtin, repeat expansions, Amyotrophic Lateral Sclerosis, Humans, Mutation, Whole Genome Sequencing, Frontotemporal dementia, Huntington’s disease, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, FALS Sequencing Consortium, Article, 03 medical and health sciences, Atrophy, Rare Diseases, American Genome Center, Clinical Research, mental disorders, Genetics, Acquired Cognitive Impairment, Dementia, PROSPECT Consortium, Neurology & Neurosurgery, Lewy body, business.industry, International LBD Genomics Consortium, Neurosciences, 3112 Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, medicine.disease, Brain Disorders, nervous system diseases, 030104 developmental biology, Genomics England Research Consortium, 1701 Psychology, ALS, business, 1109 Neurosciences, 030217 neurology & neurosurgery
Abstract: Hannu Laaksovirta konsortion jäsenenä. The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium, The PROSPECT Consortium,17 James B. Rowe,17 Luisa Benussi,18 Giuliano Binetti,18,19 Roberta Ghidoni,18 Edwin Jabbari,20,21 Coralie Viollet,22 Jonathan D. Glass,23 Andrew B. Singleton,24 Vincenzo Silani,25,26 Owen A. Ross,27 Mina Ryten,8,28,29 Ali Torkamani,30 Toshiko Tanaka,31 Luigi Ferrucci,31 Susan M. Resnick,32 We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40?64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington?s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered. We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40?64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington?s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
Published: 2020

27. Erenumab in 159 high frequency and chronic migraine patients: real-life results from the Bologna Headache Center

Author: Pietro Cortelli, Gian Maria Asioli, Giulia Pierangeli, Matteo Benini, Sabina Cevoli, Umberto Pensato, Valentina Favoni, Calogero Calabrò, Elena Merli, Alessia Pascazio, Eleonora Matteo, Matteo E., Favoni V., Pascazio A., Pensato U., Benini M., Asioli G.M., Merli E., Calabro C., Cortelli P., Pierangeli G., and Cevoli S.
Subjects: medicine.medical_specialty, Pediatrics, Neurology, business.industry, Migraine Disorders, Headache, MEDLINE, Dermatology, General Medicine, Antibodies, Monoclonal, Humanized, Psychiatry and Mental health, Chronic Migraine, Calcitonin Gene-Related Peptide Receptor Antagonists, medicine, Humans, Center (algebra and category theory), Neurology (clinical), Neurosurgery, chronic migraine, business, Erenumab, Neuroradiology
Abstract: Migraine is one of the most prevalent and disabling conditions worldwide. Treatment of migraine can involve both acute and preventive interventions. Patients with frequent headache mayrequire both approaches. Acute treatment is aimed at aborting the headache attack, whereas preventive treatment is geared toward reducing the frequency and severity of attacks.
Published: 2020

28. Moving closer to the ideal migraine acute treatment

Author: Sabina Cevoli, Umberto Pensato, and Valentina Favoni
Subjects: medicine.medical_specialty, Neurology, Ideal (set theory), business.industry, Migraine Disorders, MEDLINE, Dermatology, General Medicine, medicine.disease, Serotonin Receptor Agonists, Psychiatry and Mental health, Treatment Outcome, Migraine, medicine, Humans, Medical physics, Neurology (clinical), Neurosurgery, business, Neuroradiology
Published: 2020

29. Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

Author: Eleonora Dalla Bella, Viviana Pensato, Valeria Elisa Contarino, Stefano F. Cappa, Cinzia Gellera, Giuseppe Lauria, Monica Consonni, and Eleonora Catricalà
Subjects: Male, FTD, frontotemporal dementia, Neuropsychological Tests, lcsh:RC346-429, CT, cortical thickness, 0302 clinical medicine, Neuropsychological assessment, Amyotrophic lateral sclerosis, Cognitive impairment, Cerebral Cortex, medicine.diagnostic_test, 05 social sciences, Neurodegeneration, Cognition, Regular Article, Cognitive profiles, Middle Aged, ALS, amyotrophic lateral sclerosis, HC, healthy control, Magnetic Resonance Imaging, Neurology, ALSimp, ALS with cognitive and/or behavioural impairment, lcsh:R858-859.7, Female, Frontotemporal dementia, Temporal lobe, MD, multi-domain, Cognitive Neuroscience, lcsh:Computer applications to medicine. Medical informatics, 050105 experimental psychology, Cortical thickness, 03 medical and health sciences, C9– ALS, ALS without C9orf repeat expansion, medicine, ALScn, cognitively-normal ALS, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, lcsh:Neurology. Diseases of the nervous system, ALSbi, ALS with mild behavioural impairment, Aged, C9+ ALS, ALS harbouring C9orf72 repeat expansion, business.industry, Amyotrophic Lateral Sclerosis, Magnetic resonance imaging, GM, grey matter, medicine.disease, ALSci, ALS with mild cognitive impairment, Neurology (clinical), Atrophy, business, Cognition Disorders, Neuroscience, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) can be associated with a spectrum of cognitive and behavioural symptoms, but the related patterns of focal cortical atrophy in non-demented ALS patients remain largely unknown. We enrolled 48 non-demented ALS patients and 26 healthy controls for a comprehensive neuropsychological assessment and a magnetic resonance exam. Behavioural and cognitive impairment was defined on the basis of a data-driven multi-domain approach in 21 ALS patients. Averaged cortical thickness of 74 bilateral brain regions was used as a measure of cortical atrophy. Cortical thinning in a fronto-parietal network, suggesting a disease-specific pattern of neurodegeneration, was present in all patients, independent of cognitive and behavioural status. Between-group and correlational analyses revealed that inferior frontal, temporal, cingular and insular thinning are markers for cognitive and behavioural deficits, with language impairment mainly related to left temporal pole and insular involvement. These specific correlates support the concept of a spectrum of deficits, with an overlap between the ALS cognitive phenotypes and the syndromes of frontotemporal dementia., Highlights • Language, social cognition and executive dysfunctions are frequent symptoms in ALS. • Fronto-parietal cortical thinning is present in non-demented ALS patients. • Temporal, cingular and insular thinning are markers for cognitive impairment in ALS. • Left temporal pole and insular thinning is linked to language impairment in ALS.
Published: 2018

30. Real-life assessment of erenumab discontinuation following one year of treatment in migraine patients

Author: Davide Mascarella, Pietro Cortelli, Umberto Pensato, Eleonora Matteo, Valentina Favoni, Sabina Cevoli, Agnese Turrini, and Giulia Pierangeli
Subjects: Pediatrics, medicine.medical_specialty, Neurology, Migraine, business.industry, Life assessment, Medicine, Neurology (clinical), business, medicine.disease, Discontinuation
Published: 2021

31. Behavioural impairment in ALS patients with SOD1 mutations

Author: Viviana Pensato, Cinzia Gellera, Enrica Bersano, Eleonora Dalla Bella, Giuseppe Lauria, and Monica Consonni
Subjects: Oncology, medicine.medical_specialty, Neurology, business.industry, Internal medicine, SOD1, Medicine, Neurology (clinical), business
Published: 2021

32. Dysregulation of myomiRs as common pathogenic feature associated with muscle atrophy in ALS, SMA and SBMA: Evidence from animal models and human patients

Author: Monica Nizzardo, Viviana Pensato, Silvia Bonanno, Michela Taiana, Giuseppe Lauria, Riccardo Masson, Eleonora Giagnorio, Lorenzo Maggi, Renato Mantegazza, Cinzia Gellera, Silvia Fenu, Francesca Andreetta, Paola Cavalcante, Franco Salerno, Davide Pareyson, Stefania Corti, Claudia Malacarne, Eleonora Dalla Bella, Mariarita Galbiati, Cinzia Cagnoli, Stefania Marcuzzo, Angelo Poletti, and Anna Venerando
Subjects: Neurology, Feature (computer vision), business.industry, medicine, Neurology (clinical), medicine.symptom, SMA, business, Neuroscience, Muscle atrophy
Published: 2021

33. Chronic migraine with medication overuse headache: Is detoxification still necessary in the era of new prophylaxes?

Author: Sabina Cevoli, Valentina Favoni, Giorgia Andrini, Umberto Pensato, Eleonora Matteo, Davide Mascarella, Pietro Cortelli, Agnese Turrini, Giulia Pierangeli, and Gian Maria Asioli
Subjects: medicine.medical_specialty, Chronic Migraine, Neurology, business.industry, Detoxification, Medicine, Neurology (clinical), business, Intensive care medicine, Medication overuse
Published: 2021

34. Neurotoxicity-related to CAR-T therapy: Proposed protocol and preliminary data from Bologna

Author: Paola Tacchetti, Giulia Amore, Luisa Sambati, Beatrice Casadei, Irene Defrancesco, Cinzia Pellegrini, Lucia Cretella, Francesco De Felice, Rita Rinaldi, Elena Zamagni, Francesca Bonifazi, Michele Cavo, Susanna Mondini, Susanna Sammali, Marianna Nicodemo, Pier Luigi Zinzani, Rossella Santoro, Elisabetta Pierucci, Pietro Cortelli, Umberto Pensato, Francesca Rondelli, Maria Guarino, and Roberto D'Angelo
Subjects: Protocol (science), Oncology, medicine.medical_specialty, Neurology, business.industry, Internal medicine, medicine, Neurotoxicity, Neurology (clinical), Car t cells, medicine.disease, business
Published: 2021

35. The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Author: Simona Mellone, Massimo Saraceno, Alice Di Pierro, Viviana Pensato, Eleonora Dalla Bella, Letizia Mazzini, Roberta Croce, Cinzia Gellera, Ettore Salsano, Elvezia Maria Paraboschi, Sandra D'Alfonso, Mara Giordano, and Lucia Corrado
Subjects: Genetics, 03 medical and health sciences, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), medicine, Neurology (clinical), Amyotrophic lateral sclerosis, Allele, Biology, medicine.disease, TARDBP, 030217 neurology & neurosurgery
Abstract: Here, we described the first amyotrophic lateral sclerosis patient presenting the c.881 G > T p.G294V TARDBP mutation in homozygous status. The patient belongs to a large pedigree from Morocco. Except for one older affected brother his parents and remaining 8 sibs are referred to be healthy and do not show any neurological sign or symptom. The lack of evidence of TARDBP deletions of any sizes, together with the presence of several AOH segments, strongly suggests that the homozygosity status of p.G294V in the proband derived from parental consanguinity. A revision of the literature and our cohorts indicates that the p.G294V mutation has been detected in only 15 additional ALS patients in heterozygosity and, except for one additional Moroccan patient, all were of Italian origin. The analysis of microsatellite markers surrounding the TARDBP gene in 8 individuals carrying the p.G294V mutation showed that the haplotypic context of the Moroccan proband is shared with most patients of European origin indicating that they carry the p.G294V mutation inherited from a common ancestor. The analysis of the 15 ALS pedigrees (from literature data and present study), strongly suggests a reduced penetrance of the p.G294V mutation since for 13 of the 15 described p.G294V ALS cases the parents did not show any neurological symptoms. This result has potentially important implications in genetic counseling, since genetic testing of a reduced penetrance mutation on pre-symptomatic individuals proves very difficult to predict the outcome based on the genotype.
Published: 2019
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36. Encephalopathy in COVID-19 Presenting With Acute Aphasia Mimicking Stroke.

Author: Pensato, Umberto, Muccioli, Lorenzo, Pasini, Elena, Tappatà, Maria, Ferri, Lorenzo, Volpi, Lilia, Licchetta, Laura, Battaglia, Stella, Rossini, Giada, Bon, Isabella, Re, Maria Carla, Cirillo, Luigi, Simonetti, Luigi, Gramegna, Laura Ludovica, Michelucci, Roberto, Cortelli, Pietro, Zini, Andrea, and Bisulli, Francesca
Subjects: COVID-19, PATHOLOGY, VIRUS diseases, SYMPTOMS, CORONAVIRUSES
Abstract: Introduction: Neurological manifestations are emerging as relatively frequent complications of corona virus disease 2019 (COVID-19), including stroke and encephalopathy. Clinical characteristics of the latter are heterogeneous and not yet fully elucidated, while the pathogenesis appears related to neuroinflammation in a subset of patients. Case: A middle-aged man presented with acute language disturbance at the emergency department. Examination revealed expressive aphasia, mild ideomotor slowing, and severe hypocapnic hypoxemia. Multimodal CT assessment and electroencephalogram (EEG) did not reveal any abnormalities. COVID-19 was diagnosed based on chest CT findings and positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reverse transcription PCR (RT-PCR) on nasopharyngeal swab. The following day, neurological symptoms progressed to agitated delirium and respiratory status worsened, requiring admission to the ICU and mechanical ventilation. Brain MRI and cerebrospinal fluid (CSF) studies were unremarkable. RT-PCR for SARS-CoV-2 on CSF was negative. He received supportive treatment and intravenous low-dose steroids. His neurological and respiratory status resolved completely within 2 weeks. Conclusions: We report a patient with reversible COVID-19-related encephalopathy presenting as acute aphasia, mimicking stroke or status epilepticus, eventually evolving into delirium. Although large-vessel stroke is frequently encountered in COVID-19, our case suggests that focal neurological deficits may occur as the earliest feature of encephalopathy. Neurological status reversibility and the absence of abnormalities on brain MRI are consistent with a functional rather than a structural neuronal network impairment. [ABSTRACT FROM AUTHOR]
Published: 2020
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37. TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Author: Pensato, V, Tiloca, C, Corrado, L, Bertolin, C, Sardone, V, Del Bo, R, Calini, D, Mandrioli, J, Lauria, G, Mazzini, L, Querin, G, Ceroni, M, Cantello, R, Corti, S, Castellotti, B, Soldà, G, Duga, S, Comi, Gp, Cereda, C, Sorarù, G, D'Alfonso, S, Taroni, F, Shaw, Ce, Landers, Je, Ticozzi, N, Ratti, A, Gellera, C, Silani, V, and Slagen, Consortium
Subjects: Genetics, Male, media_common.quotation_subject, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Art, TUBA4A gene, Middle Aged, Article, Female, Humans, Mutation, Tubulin, Neurology, Neurology (clinical), Humanities, media_common
Abstract: Viviana Pensato • Cinzia Tiloca • Lucia Corrado • Cinzia Bertolin • Valentina Sardone • Roberto Del Bo • Daniela Calini • Jessica Mandrioli • Giuseppe Lauria • Letizia Mazzini • Giorgia Querin • Mauro Ceroni • Roberto Cantello • Stefania Corti • Barbara Castellotti • Giulia Solda • Stefano Duga • Giacomo P. Comi • Cristina Cereda • Gianni Soraru • Sandra D’Alfonso • Franco Taroni • Christopher E. Shaw • John E. Landers • Nicola Ticozzi • Antonia Ratti • Cinzia Gellera • Vincenzo Silani • The SLAGEN Consortium
Published: 2015

38. PEX7Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Author: Manuela Rizzetto, Claudio Caccia, Viviana Pensato, Caterina Mariotti, Cinzia Gellera, Valerio Leoni, Lorenzo Nanetti, Franco Taroni, Nanetti, L, Pensato, V, Leoni, V, Rizzetto, M, Caccia, C, Taroni, F, Mariotti, C, and Gellera, C
Subjects: medicine.medical_specialty, Pathology, Ataxia, Rhizomelic chondrodysplasia punctata, business.industry, Gene mutation, medicine.disease, Gastroenterology, mass spectrometry, oxysterols, organic acids, fatty acids, metabolomics, cholesterol, neurodegenerative diseases, Peripheral neuropathy, Refsum disease, Neurology, Internal medicine, Retinitis pigmentosa, medicine, Missense mutation, Chondrodysplasia punctata, Neurology (clinical), medicine.symptom, business, Letter to the Editor
Abstract: Adult Refsum disease (ARD) is a progressive multisystem disorder that is characterized by retinitis pigmentosa, hearing and smell loss, skeletal deformities, and elevated levels of phytanic acid (PA) in tissues. Peripheral neuropathy, cardiac abnormalities, and skin ichthyosis are considered subsequent manifestations, and are often described in patients not treated with PA dietary restriction. Mutations of the gene encoding the phytanoyl-coenzyme A (CoA) hydroxylase enzyme (PHYH) are the major genetic cause of ARD,1 and in a small number of cases a second gene, PEX7, which encodes peroxin 7 receptor protein (PEX7), has been associated with the ARD phenotype.2 We observed two Italian siblings who presented with late-onset progressive ataxia and cognitive decline. They comprised a 56-year-old woman and her 63-year-old brother, born from consanguineous parents, and presented with infantile bilateral cataract and retinitis pigmentosa. Except for the visual defect, both siblings exhibited normal psychomotor development. In adulthood (at age 40 years for the brother and 53 years for the sister), both patients manifested progressive behavioral and cognitive abnormalities associated with ataxic gait. At the latest examination, at ages 57 and 63 years, respectively, they presented with dementia (Mini-Mental State Examination scores of 19/30 and 13/30, respectively), motor apraxia, ophthalmoparesis, mild dysarthria, ataxic gait, mild limb dysmetria, Babinski sign, and decreased lower-limb deep-tendon reflexes. Neither of the patients had hearing loss, anosmia, or short metacarpals/metatarsals, and only the brother presented with dilated cardiomyopathy. Brain MRI revealed mild diffuse atrophy, and muscle biopsy sampling revealed normal morphology. Nerve conduction studies demonstrated a mild motor demyelinating neuropathy in the lower limbs, and somatosensory evoked potentials revealed a prolongation of the central conduction time. Both patients also presented with increased plasma PA levels (387.5 and 188.9 µmol/L), suggesting a diagnosis of ARD. Mutational screening of PHYH was negative, but there was a novel homozygous mutation in PEX7, p.Leu12Pro, caused by a T>C transition at nucleotide 35 (c.35T>C). This missense variation involved a well-conserved residue, and has not been reported as a single-nucleotide polymorphism (SNP) in the Human Gene Mutation Database, National Center for Biotechnology Information database for SNPs (dbSNP132ver) or Exome Variant Server. In silico analyses predicted the mutation as probably damaging: the scores were 0.98 (PolyPhen-2-HumDiv), 0.635 (PolyPhen-2-HumVar), and 0 (Sorting Tolerant From Intolerant). The parents were not available for segregation analysis, and an asymptomatic brother was found to be heterozygous for this mutation. The patients refused a skin biopsy procedure, preventing investigations of plasmalogen synthesis.3 PEX7 mutations are most frequently found in infants affected by rhizomelic chondrodysplasia punctata type 1 (RCDP1), a congenital and rapidly worsening syndrome that is characterized by rhizomelia, chondrodysplasia punctata, cataract, and severe growth and mental retardation.3 The protein encoded by PEX7, Pex7, is essential for peroxisomal delivery of matrix enzymes containing the peroxisomal targeting signal type 2 in the amino acid sequence, including the phytanoyl-CoA hydroxylase and the plasmalogen synthesis apparatus.4 In both RCDP1 and ARD, patients present with elevated PA levels due to either a defect in the peroxisomal import of the metabolic enzymes or a primary loss-of-function of the phytanoyl-CoA hydroxylase enzyme.4 Several PEX7 mutations have so far been described in association with the RCDP1 phenotype. Only eight patients with PEX7 mutations and the Refsum phenotype have been reported, and in all of these cases the presentation was consistent with the ARD phenotype with a mild disease course (Table 1).2,3,5 In the previously reported cases, the most frequent disease manifestations were retinopathy, cataract, anosmia, hearing loss, and neuropathy (Table 1). In the cases described herein, the ocular abnormalities were also the earliest signs, but neither anosmia nor deafness was observed, while in the fifth decade both siblings developed progressive signs of dementia and ataxia. It is known that the clinical severity of this disease is associated with the residual activities and reduced amounts of Pex7.3 In particular, functional and modeling analyses have demonstrated that missense mutations associated with a severe phenotype are located in within the β sheets, probably causing a disruption of the protein structure.3 The p.Leu12Pro mutation, unlike previous missense mutations, is not located on the WD-40 repeat motif in PEX7, and it can be hypothesized that a less adverse effect on protein structure-allowing correct folding and greater residual activity-can account for the mild phenotype in these two patients. Table 1 Clinical, biochemical, and genetic characteristics of the patients with PEX7 gene mutations associated with Refsum disease phenotype, including the cases described in this study and review of the literature
Published: 2015

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