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1. Diagnostic criteria for amyotrophic lateral sclerosis: A multicentre study of inter-rater variation and sensitivity

Author: Johnsen, B., Pugdahl, K., Fuglsang-Frederiksen, A., Kollewe, K., Paracka, L., Dengler, R., Camdessanché, J.P., Nix, W., Liguori, R., Schofield, I., Maderna, L., Czell, D., Neuwirth, C., Weber, M., Drory, V.E., Abraham, A., Swash, M., and de Carvalho, M.
Published: 2019
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2. Phenotypic Variability in Acquired and Idiopathic Dystonia

Author: Defazio, G, Gigante, Af, Erro, R, Belvisi, D, Esposito, M, Trinchillo, A, De Joanna, G, Ceravolo, R, Mazzucchi, S, Unti, E, Barone, P, Scannapieco, S, Cotelli, Ms, Turla, M, Bianchi, M, Bertolasi, L, Pisani, A, Valentino, F, Altavista, Mc, Moschella, V, Girlanda, P, Terranova, C, Bono, F, Spano, G, Fabbrini, G, Ferrazzano, G, Albanese, A, Castagna, A, Cassano, D, Moja, Mc, Pellicciari, R, Bentivoglio, Ar, Eleopra, R, Cossu, G, Ercoli, T, Mascia, Mm, Di Biasio, F, Misceo, S, Magistrelli, L, Romano, M, Scaglione, Clm, Tinazzi, M, Maderna, L, Zibetti, M, and Berardelli, A
Subjects: clinical phenomenology, acquired, idiopathic, dystonia
Published: 2023

3. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis

Author: Verde, F, Zaina, G, Bodio, C, Borghi, M, Soranna, D, Peverelli, S, Ticozzi, N, Morelli, C, Doretti, A, Messina, S, Maderna, L, Colombrita, C, Gumina, V, Tiloca, C, Meroni, P, Zambon, A, Ratti, A, Silani, V, Verde F., Zaina G., Bodio C., Borghi M. O., Soranna D., Peverelli S., Ticozzi N., Morelli C., Doretti A., Messina S., Maderna L., Colombrita C., Gumina V., Tiloca C., Meroni P. L., Zambon A., Ratti A., Silani V., Verde, F, Zaina, G, Bodio, C, Borghi, M, Soranna, D, Peverelli, S, Ticozzi, N, Morelli, C, Doretti, A, Messina, S, Maderna, L, Colombrita, C, Gumina, V, Tiloca, C, Meroni, P, Zambon, A, Ratti, A, Silani, V, Verde F., Zaina G., Bodio C., Borghi M. O., Soranna D., Peverelli S., Ticozzi N., Morelli C., Doretti A., Messina S., Maderna L., Colombrita C., Gumina V., Tiloca C., Meroni P. L., Zambon A., Ratti A., and Silani V.
Published: 2021

4. CSF angiogenin levels in amyotrophic lateral Sclerosis-Frontotemporal dementia spectrum

Author: Morelli, C, Tiloca, C, Colombrita, C, Zambon, A, Soranna, D, Lafronza, A, Solca, F, Carelli, L, Poletti, B, Doretti, A, Verde, F, Maderna, L, Ticozzi, N, Ratti, A, Silani, V, Solca, F., Morelli, C, Tiloca, C, Colombrita, C, Zambon, A, Soranna, D, Lafronza, A, Solca, F, Carelli, L, Poletti, B, Doretti, A, Verde, F, Maderna, L, Ticozzi, N, Ratti, A, Silani, V, and Solca, F.
Abstract: Objective: Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1G93A mice have linked ANG to the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), stimulating interest in considering circulating ANG levels as an ALS disease biomarker although robust evidence is still lacking. Aim of our study was to assess differences of ANG levels in the cerebrospinal fluid (CSF) of a large cohort of patients with ALS and frontotemporal dementia (FTD) compared to controls and to explore correlations between ANG content and disease-related clinical variables. Methods: ANG levels were measured in CSF samples using a commercially available ELISA kit in 88 patients affected with ALS and/or FTD and 46 unrelated individuals (control group). Results: ANG levels didn’t differ significantly between cases and controls. Patients with FTD or ALS-FTD showed significantly increased CSF concentration of ANG compared to ALS patients without dementia and controls in a multivariate regression model (p < 0.001). No correlations were found in ALS/FTD patients between ANG levels and clinical parameters, including age, presence of C9orf72 repeat expansion, body mass index (BMI). Conclusions: our findings highlight a role of ANG as CSF biomarker useful to identify ALS patients with concurrent FTD and suggest that it should be further explored as potential biomarker for FTD.
Published: 2020

5. Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Author: Defazio, G., Fabbrini, G., Erro, R., Albanese, Alberto, Barone, P., Zibetti, M., Esposito, M., Pellicciari, R., Avanzino, L., Bono, F., Eleopra, R., Bertolasi, L., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Scaglione, C., Bentivoglio, Anna Rita, Cossu, G., Coletti Moja, M., Girlanda, P., Misceo, S., Pisani, A., Mascia, M. M., Ercoli, T., Tinazzi, M., Maderna, L., Minafra, B., Magistrelli, L., Romano, M., Aguggia, M., Tambasco, N., Castagna, A., Cassano, D., Berardelli, A., Ferrazzano, G., Lalli, S., Silvestre, F., Manganelli, F., Di Biasio, F., Marchese, R., Demonte, G., Santangelo, D., Devigili, G., Durastanti, V., Turla, M., Mazzucchi, S., Petracca, Martina, Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., Modugno, N., Albanese A. (ORCID:0000-0002-5864-0006), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Petracca M., Defazio, G., Fabbrini, G., Erro, R., Albanese, Alberto, Barone, P., Zibetti, M., Esposito, M., Pellicciari, R., Avanzino, L., Bono, F., Eleopra, R., Bertolasi, L., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Scaglione, C., Bentivoglio, Anna Rita, Cossu, G., Coletti Moja, M., Girlanda, P., Misceo, S., Pisani, A., Mascia, M. M., Ercoli, T., Tinazzi, M., Maderna, L., Minafra, B., Magistrelli, L., Romano, M., Aguggia, M., Tambasco, N., Castagna, A., Cassano, D., Berardelli, A., Ferrazzano, G., Lalli, S., Silvestre, F., Manganelli, F., Di Biasio, F., Marchese, R., Demonte, G., Santangelo, D., Devigili, G., Durastanti, V., Turla, M., Mazzucchi, S., Petracca, Martina, Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., Modugno, N., Albanese A. (ORCID:0000-0002-5864-0006), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), and Petracca M.
Abstract: Background: Acute peripheral trauma is a controversial risk factor for idiopathic dystonia. Materials and methods: We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia. Results: Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. 12/200, p = 0.3) and the overall number of injuries (145 for the 1382 idiopathic patients and 14 for the 200 patients with secondary dystonia, p = 0.2). Most traumas occurred before the onset of idiopathic or secondary dystonia but only a minority of such injuries (14 in the idiopathic group, 2 in the acquired group, p = 0.6) affected the same body part as that affected by dystonia. In the idiopathic group, the elapsed time between trauma and dystonia onset was 8.1 ± 9.2 years; only six of the 145 traumas (4.1%) experienced by 5/1382 idiopathic patients (0.36%) occurred one year or less before dystonia onset; in the acquired dystonia group, the two patients experienced prior trauma to the dystonic body part 5 and 6 years before dystonia development. Discussion and conclusion: Our data suggest that the contribution of peripheral acute trauma to idiopathic dystonia is negligible, if anything, and likely involves only a small subset of patients.
Published: 2020

6. Correction to: Demographic and clinical determinants of neck pain in idiopathic cervical dystonia (Journal of Neural Transmission, (2020), 127, 10, (1435-1439), 10.1007/s00702-020-02245-4)

Author: Tinazzi, M., Erro, R., Mascia, M. M., Esposito, M., Ercoli, T., Ferrazzano, G., Di Biasio, F., Pellicciari, R., Eleopra, R., Bono, F., Bertolasi, L., Barone, P., Scaglione, C. L. M., Pisani, A., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Cossu, G., Zibetti, M., Coletti Moja, M., Girlanda, P., Maderna, L., Albanese, A., Petracca, M., Magistrelli, L., Misceo, S., Minafra, B., Romano, M., Squintani, G. M., Modugno, N., Aguggia, M., Cassano, D., Castagna, A., Morgante, F., Berardelli, A., Defazio, G., Albanese A. (ORCID:0000-0002-5864-0006), Petracca M., Tinazzi, M., Erro, R., Mascia, M. M., Esposito, M., Ercoli, T., Ferrazzano, G., Di Biasio, F., Pellicciari, R., Eleopra, R., Bono, F., Bertolasi, L., Barone, P., Scaglione, C. L. M., Pisani, A., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Cossu, G., Zibetti, M., Coletti Moja, M., Girlanda, P., Maderna, L., Albanese, A., Petracca, M., Magistrelli, L., Misceo, S., Minafra, B., Romano, M., Squintani, G. M., Modugno, N., Aguggia, M., Cassano, D., Castagna, A., Morgante, F., Berardelli, A., Defazio, G., Albanese A. (ORCID:0000-0002-5864-0006), and Petracca M.
Abstract: The original version of this article unfortunately contained a mistake.
Published: 2020

7. Demographic and clinical determinants of neck pain in idiopathic cervical dystonia

Author: Tinazzi, M., Erro, R., Mascia, M. M., Esposito, M., Ercoli, T., Ferrazzano, G., Di Biasio, F., Pellicciari, R., Eleopra, R., Bono, F., Bertolasi, L., Barone, P., Scaglione, C. L. M., Pisani, A., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Cossu, G., Zibetti, M., Moja, M. C., Girlanda, P., Maderna, L., Albanese, Alberto, Petracca, Martina, Magistrelli, L., Misceo, S., Minafra, B., Romano, M., Squintani, G. M., Modugno, N., Aguggia, M., Cassano, D., Castagna, A., Morgante, F., Berardelli, A., Defazio, G., Albanese A. (ORCID:0000-0002-5864-0006), Petracca M., Tinazzi, M., Erro, R., Mascia, M. M., Esposito, M., Ercoli, T., Ferrazzano, G., Di Biasio, F., Pellicciari, R., Eleopra, R., Bono, F., Bertolasi, L., Barone, P., Scaglione, C. L. M., Pisani, A., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Cossu, G., Zibetti, M., Moja, M. C., Girlanda, P., Maderna, L., Albanese, Alberto, Petracca, Martina, Magistrelli, L., Misceo, S., Minafra, B., Romano, M., Squintani, G. M., Modugno, N., Aguggia, M., Cassano, D., Castagna, A., Morgante, F., Berardelli, A., Defazio, G., Albanese A. (ORCID:0000-0002-5864-0006), and Petracca M.
Abstract: Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain.
Published: 2020

8. CSF angiogenin levels in amyotrophic lateral Sclerosis-Frontotemporal dementia spectrum

Author: Morelli, C., primary, Tiloca, C., additional, Colombrita, C., additional, Zambon, A., additional, Soranna, D., additional, Lafronza, A., additional, Solca, F., additional, Carelli, L., additional, Poletti, B., additional, Doretti, A., additional, Verde, F., additional, Maderna, L., additional, Ticozzi, N., additional, Ratti, A., additional, and Silani, V., additional
Published: 2019
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9. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. 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Abstract: To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018

10. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J. M., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Quanquan, Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., Macgowan, D. J. L., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S. K., Lenail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J. E., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., Landi F. (ORCID:0000-0002-3472-1389), Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J. M., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Quanquan, Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., Macgowan, D. J. L., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S. K., Lenail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J. E., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., and Landi F. (ORCID:0000-0002-3472-1389)
Abstract: To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018

11. CSF angiogenin levels in amyotrophic lateral Sclerosis-Frontotemporal dementia spectrum.

Author: Morelli, C., Tiloca, C., Colombrita, C., Zambon, A., Soranna, D., Lafronza, A., Solca, F., Carelli, L., Poletti, B., Doretti, A., Verde, F., Maderna, L., Ticozzi, N., Ratti, A., and Silani, V.
Subjects: FRONTOTEMPORAL lobar degeneration, CEREBROSPINAL fluid, AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL dementia, BODY mass index, DEMENTIA, TRANSGENIC mice
Abstract: Objective: Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1G93A mice have linked ANG to the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), stimulating interest in considering circulating ANG levels as an ALS disease biomarker although robust evidence is still lacking. Aim of our study was to assess differences of ANG levels in the cerebrospinal fluid (CSF) of a large cohort of patients with ALS and frontotemporal dementia (FTD) compared to controls and to explore correlations between ANG content and disease-related clinical variables. Methods: ANG levels were measured in CSF samples using a commercially available ELISA kit in 88 patients affected with ALS and/or FTD and 46 unrelated individuals (control group). Results: ANG levels didn't differ significantly between cases and controls. Patients with FTD or ALS-FTD showed significantly increased CSF concentration of ANG compared to ALS patients without dementia and controls in a multivariate regression model (p < 0.001). No correlations were found in ALS/FTD patients between ANG levels and clinical parameters, including age, presence of C9orf72 repeat expansion, body mass index (BMI). Conclusions: our findings highlight a role of ANG as CSF biomarker useful to identify ALS patients with concurrent FTD and suggest that it should be further explored as potential biomarker for FTD. [ABSTRACT FROM AUTHOR]
Published: 2020
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12. Platform Session – Electromyography: Large inter-rater variation on revised El Escorial and Awaji diagnostic criteria for amyotrophic lateral sclerosis

Author: Johnsen, Birger, primary, Pugdahl, Kirsten, additional, Fuglsang-Frederiksen, Anders, additional, Kollewe, Katja, additional, Paracka, Lejla, additional, Dengler, Reinhard, additional, Camdessanché, Jean-Philippe, additional, Nix, Wilfred, additional, Liguori, Rocco, additional, Schofield, Ian, additional, Maderna, L., additional, Czell, David, additional, Neuwirth, Christoph, additional, Weber, Markus, additional, Drory, V.E., additional, Avraham, Alon, additional, and de Carvalho, Mamede, additional
Published: 2018
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13. 28. Treatment with onabotulinumtoxinA of pectoral spasm after expander-based breast reconstruction

Author: Maderna, L., primary, Doretti, A., additional, Riccardi, B., additional, Gregorini, F., additional, Gerevini, S., additional, and Silani, V., additional
Published: 2016
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14. Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS

Author: Beghi, E, Pupillo, E, Bonito, V, Buzzi, P, Caponnetto, C, Chiò, A, Corbo, M, Giannini, F, Inghilleri, M, Bella, Vl, Logroscino, G, Lorusso, L, Lunetta, C, Mazzini, L, Messina, P, Mora, G, Perini, M, Quadrelli, Ml, Silani, V, Simone, Il, Tremolizzo, L, Samarelli, V, Tortelli, R, D'Errico, E, Merello, M, Tavernelli, F, Mancardi, GIOVANNI LUIGI, Mascolo, M, Bendotti, C, Buratti, M, Floriani, I, Giordano, L, Giussani, G, Maderna, L, Maestri, E, Marinou, K, Mennini, T, Messina, S, Morelli, C, Papetti, L, Rizzo, A, Ticozzi, N, Verde, F, Ferrarese, C, Marzorati, L, Testa, L, Valentino, F, Frasca, V, Giacomelli, E, Casali, S, Malentacchi, M, Calvo, A, Cammarosano, S, Moglia, C, Cavallo, E, Fuda, G., Beghi,E, Pupillo, E, Bonito, V, Buzzi, P, Caponnetto, C, Chiò, A, Corbo, M, Giannini, F, Inghilleri, M, La Bella, V, Logroscino,G, Lorusso,L, Lunetta,C, Mazzini, L, Messina, P, Mora, G, Perini, M, Quadrelli, ML, Silani, V, Simone, IL, Tremolizzo, L, Valentino, F, The Italian ALS, Study Group, Beghi, E, Bella, V, Logroscino, G, Lorusso, L, Lunetta, C, Quadrelli, M, Simone, I, The Italian ALS Study Group, I, and Ferrarese, C
Subjects: Male, amyotrophic lateral sclerosis, Vital Capacity, Placebo-controlled study, Pilot Projects, Gastroenterology, law.invention, Randomized controlled trial, law, Acetyl-L-carnitine, motor neuron disease, randomized trial, acetyl-l-carnitine, Amyotrophic lateral sclerosis, Acetylcarnitine, ALS, acetyl-L-carnitine, Nootropic Agents, Riluzole, Middle Aged, Treatment Outcome, Neurology, Combination, Disease Progression, Drug Therapy, Combination, Settore MED/26 - Neurologia, Female, medicine.drug, Adult, medicine.medical_specialty, Acetyl-L-carnitine, amyotrophic lateral sclerosis, motor neuron disease, randomized trial, Double blind, Double-Blind Method, Drug Therapy, Internal medicine, medicine, Humans, Aged, MED/26 - NEUROLOGIA, business.industry, Disease progression, medicine.disease, Surgery, Quality of Life, Amyotrophic Lateral Sclerosis, Excitatory Amino Acid Antagonists, Neurology (clinical), business
Abstract: Our objective was to assess the effects of acetyl-L-carnitine (ALC) with riluzole on disability and mortality of amyotrophic lateral sclerosis (ALS). Definite/probable ALS patients, 40-70 years of age, duration 6-24 months, self-sufficient (i.e. able to swallow, cut food/handle utensils, and walk), and with forced vital capacity (FVC) > 80% entered a pilot double-blind, placebo-controlled, parallel group trial and were followed for 48 weeks. ALC or placebo 3 g/day was added to riluzole 100 mg/day. Primary endpoint: number of patients no longer self-sufficient. Secondary endpoints: changes in ALSFRS-R, MRC, FVC and McGill Quality of Life (QoL) scores. Analysis was made in the intention-to-treat (ITT) and per-protocol (PP) population, completers and completers/compliers (i.e. taking > 75% of study drug). Forty-two patients received ALC and 40 placebo. In the ITT population, 34 (80.9%) patients receiving ALC and 39 (97.5%) receiving placebo became non-self-sufficient (p = 0.0296). In the PP analysis, percentages were 84.4 and 100.0% (p = 0.0538), respectively. Mean ALSFRS-R scores at 48 weeks were 33.6 (SD 10.4) and 27.6 (9.9) (p = 0.0388), respectively, and mean FVC scores 90.3 (32.6) and 58.6 (31.2) (p = 0.0158), respectively. Median survival was 45 months (ALC) and 22 months (placebo) (p = 0.0176). MRC, QoL and adverse events were similar. In conclusion, ALC may be effective, well-tolerated and safe in ALS. A pivotal phase III trial is needed.
Published: 2013

15. Oculomotor focal distonia

Author: Galardi G, Volonté MA, Maderna L, Amadio S, Nemni R, COMI , GIANCARLO, Galardi, G, Volonté, Ma, Maderna, L, Amadio, S, Nemni, R, and Comi, Giancarlo
Published: 2001

16. The Italian multicentric study on the prevalence of distal symmetric polyneuropathy: correlation between clinical variable and nerve conduction paramenters

Author: COMI , GIANCARLO, FEDELE D, COSCELLI C, CUCINOTTA D, FELDMAN E. L, GHIRLANDA G, NEGRIN P, SANTEUSANIO F, MADERNA L, the Italian Diabetic Neuropathy Comnmittee, Comi, Giancarlo, Fedele, D, Coscelli, C, Cucinotta, D, FELDMAN E., L, Ghirlanda, G, Negrin, P, Santeusanio, F, Maderna, L, and the Italian Diabetic Neuropathy, Comnmittee
Published: 1999

17. THE ITALIAN MULTICENTRE STUDY ON THE PREVALENCE OF DISTAL SYMMETRIC POLYNEUROPATHY: CORRELATION BETWEEN CLINICAL VARIABLES AND NERVE CONDUCTION PARAMETERS. ITALIAN DIABETIC NEUROPATHY COMMITTEE

Author: Comi, G., Fedele, D., Coscelli, C., Cucinotta, D., Eva Feldman, Ghirlanda, G., Negrin, P., Santeusanio, F., and Maderna, L.
Published: 1999

18. Repeatability of surface EMG variables during voluntary isometric contractions of the biceps brachii

Author: Rainoldi, Alberto, Galardi, G., Maderna, L., Comi, G., Lo Conte, L., and Merletti, R.
Published: 1999

19. Repeatability of surface EMG variables during voluntary isometric contractions of the biceps brachii muscle

Author: Galardi, G, Rainoldi, Alberto, Maderna, L, and Merletti, R.
Published: 1998

20. A single-blinded, randomized pilot study of botulinum toxin type A combined with non-pharmacological treatment for spastic foot

Author: Baricich, A, primary, Carda, S, additional, Bertoni, M, additional, Maderna, L, additional, and Cisari, C, additional
Published: 2008
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21. Neurophysiological Studies In Metachromatic Leukodistrophy

Author: Galardi, G, primary, Amadio, S, additional, Maderna, L, additional, Medaglini, S, additional, Wrabetz, L, additional, and Comi, G., additional
Published: 2001
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22. Repeatability of surface EMG variables during voluntary isometric contractions of the biceps brachii muscle

Author: Rainoldi, A., primary, Galardi, G., additional, Maderna, L., additional, Comi, G., additional, Lo Conte, L., additional, and Merletti, R., additional
Published: 1999
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23. Fatigue in multiple sclerosis patients studied with repetitive transcranial magnetic stimulation

Author: Maderna, L, primary
Published: 1997
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24. Pretarsal injections of botulinum toxin improve blepharospasm in previously unresponsive patients.

Author: Albanese, A, primary, Bentivoglio, A R, additional, Colosimo, C, additional, Galardi, G, additional, Maderna, L, additional, and Tonali, P, additional
Published: 1996
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25. Ascending paralysis in AIDS patients: Guillain Barrè syndrome or cytomegalovirus (CMV) polyradiculopaty?

Author: Medaglini, S., primary, Fornara, C., additional, Maderna, L., additional, Galardi, G., additional, Fumagalli, L., additional, Cinque, P., additional, Lazzarin, A., additional, Canal, N., additional, and Comi, G., additional
Published: 1996
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26. Effects of intravenous immunoglobulin therapy on neruophysiological features in 5 patients with multifocal motor neuropathy

Author: Galardi, G., primary, Amadio, S., additional, Bianchi, E., additional, Maderna, L., additional, Riti, F., additional, Fazio, R., additional, Nemni, R., additional, and Comi, G., additional
Published: 1995
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27. Neurophysiological assessment of the effects of high-dose i.v. immunoglobulin treatment in 9 patients with chronic inflammatory demyelinating polyneuropathy

Author: Amadio, S., primary, Galardi, G., additional, Bianchi, E., additional, Maderna, L., additional, Riti, F., additional, Fazio, R., additional, Nemni, R., additional, and Comi, G., additional
Published: 1995
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28. Pupillometry for assessment of pupil motolity after botulinum toxin treatment

Author: Galardi, G., primary, Sora, M.G.Natali, additional, Amadio, S., additional, Rossi, P., additional, Maderna, L., additional, and Comi, G., additional
Published: 1993
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29. Pupillometry for assessment of pupillary motility after botulinum toxin treatment

Author: Comi, G., primary, Galardi, G., additional, Natali Sora, M.G., additional, Rossi, P., additional, Maderna, L., additional, and Canal, N., additional
Published: 1993
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30. Lymphocyte subset values modification following low-dose total body irradiation (LD-TBI): A longitudinal study on chronic progressive multiple sclerosis (CPMS)

Author: Colombo, B., primary, Comi, G., additional, Martinelli, V., additional, Poggi, A., additional, Filippi, M., additional, Maderna, L., additional, Ferrarini, M., additional, Ciboddo, G., additional, Fossati, V., additional, and Martinenghi, C., additional
Published: 1991
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31. Transcranial magnetic stimulation and silent period in spasmodic torticollis.

Author: Amadio S, Panizza M, Pisano F, Maderna L, Miscio C, Nilsson J, Volonté MA, Comi G, and Galardi G
Published: 2000

32. Electrophysiologic studies in tarsal tunnel syndrome: diagnostic reliability of motor distal latency, mixed nerve and sensory nerve conduction studies.

Author: Galardi G, Amadio S, Maderna L, Meraviglia MV, Brunati L, Dal Conte G, and Comi G
Published: 1994
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33. Telepresence teaching visual equipment

Author: Brofferio, S. C., Grotto, U. Lauro, and Maderna, L.
Published: 2000
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34. Neurophysiological and neuroradiological correlates of fatigue in non-disabled multiple sclerosis patients

Author: Rossi, P., Leocani, L., Colombo, B., Boneschi, F. M., marco rovaris, Filippi, M., Maderna, L., Comi, G., Canal, N., Rossi, P., Leocani, ANNUNZIATA MARIA LETIZIA, Colombo, B., Boneschi, F. M., Rovaris, M., Filippi, Massimo, Maderna, L., Comi, G., and Canal, N.

35. The diagnosis of Amyotrophic Lateral Sclerosis

Author: Vincenzo Silani, Messina, S., Poletti, B., Morelli, C., Doretti, A., Ticozzi, N., and Maderna, L.

36. Diagnosis of Amyotrophic Lateral Sclerosis (ALS): 2009 | La diagnosi di Sclerosi Laterale Amiotrofica (SLA): 2009

Author: Silani, V., Morelli, C., Nicola Ticozzi, and Maderna, L.

37. Genetics of familial amyotrophic lateral sclerosis

Author: Ticozzi, N., Tiloca, C., Claudia Morelli, Colombrita, C., Poletti, B., Doretti, Maderna, L., Messina, S., Ratti, A., and Silani, V.

38. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Subjects: Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
Abstract: © 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018

39. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis

Author: Stefano Messina, Maria Orietta Borghi, Claudia Colombrita, Silvia Peverelli, Gloria Zaina, Federico Verde, Valentina Gumina, Cinzia Tiloca, Vincenzo Silani, Claudia Morelli, Alberto Doretti, Antonia Ratti, Luca Maderna, Nicola Ticozzi, Caterina Bodio, Davide Soranna, Pier Luigi Meroni, Antonella Zambon, Verde, F, Zaina, G, Bodio, C, Borghi, M, Soranna, D, Peverelli, S, Ticozzi, N, Morelli, C, Doretti, A, Messina, S, Maderna, L, Colombrita, C, Gumina, V, Tiloca, C, Meroni, P, Zambon, A, Ratti, A, and Silani, V
Subjects: Male, medicine.medical_specialty, neurochemistry, CSF, Lower motor neuron, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Degenerative disease, Neurofilament Proteins, Internal medicine, medicine, Humans, Amyotrophic lateral sclerosis, Motor Neuron Disease, Phosphorylation, MED/01 - STATISTICA MEDICA, Primary Lateral Sclerosis, Aged, Retrospective Studies, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Clinical trial, Psychiatry and Mental health, medicine.anatomical_structure, Hexosaminidases, Biomarker (medicine), Surgery, Female, Neurology (clinical), ALS, business, 030217 neurology & neurosurgery, Biomarkers
Abstract: Primary lateral sclerosis (PLS) is a rare degenerative disease of upper motor neurons (UMNs) manifesting with progressive spasticity. Disease progression is definitely slower than in amyotrophic lateral sclerosis (ALS). Clinical distinction between PLS and ALS can be challenging, as the UMN-dominant form of ALS may sometimes not manifest lower motor neuron (LMN) signs for a long time after symptom onset.1 Therefore, traditional PLS diagnostic criteria allowed diagnosis only after 3 or 4 years of documented absence of LMN signs,2 which poses a psychological burden on patients, hinders correct clinical management and prevents enrolment in clinical trials. In order to overcome these issues, new diagnostic criteria have been recently formulated, shortening the time required for a diagnosis of probable PLS to 2 years.1 Diagnostic uncertainties in PLS are complicated by the lack of specific neurochemical biomarkers. Whereas cerebrospinal fluid (CSF) neurofilament levels are clearly increased in ALS, making them a well-established ALS biomarker reflecting axonal degeneration, few studies reported lower increases in PLS3; a similar pattern was observed for the putative ALS microglial biomarker chitotriosidase (Chit1).4 Here we measured phosphorylated neurofilament heavy chain (pNFH) and Chit1 in the CSF of patients with PLS, ALS and non-neurodegenerative neurological conditions, focusing on the ability of each biomarker to distinguish PLS from controls and from ALS. ### Patients In this retrospective study we included those 10 patients (5 men, 5 women) from our consecutive PLS series (n=52) whose CSF was stored in our biobank. They all fulfilled—at the time of sampling or on later evaluations—the recently published diagnostic criteria for definite (n=9) or probable (n=1) PLS.1 Patients with ALS and neurological controls (NCs) were selected randomly from our biobank to form two cohorts with sex and age distributions similar to PLS. Patients with ALS (n=28; 16 men, 12 women) fulfilled …
Published: 2020

40. Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry

Author: Francesca Di Biasio, Roberta Marchese, Giovanni Abbruzzese, Ottavia Baldi, Marcello Esposito, Francesco Silvestre, Girolamo Tescione, Alfredo Berardelli, Giovanni Fabbrini, Gina Ferrazzano, Roberta Pellicciari, Roberto Eleopra, Grazia Devigili, Francesco Bono, Domenico Santangelo, Laura Bertolasi, Maria Concetta Altavista, Vincenzo Moschella, Paolo Barone, Roberto Erro, Alberto Albanese, Cesa Scaglione, Rocco Liguori, Maria Sofia Cotelli, Giovanni Cossu, Roberto Ceravolo, Mario Coletti Moja, Maurizio Zibetti, Antonio Pisani, Martina Petracca, Michele Tinazzi, Luca Maderna, Paolo Girlanda, Luca Magistrelli, Salvatore Misceo, Marcello Romano, Brigida Minafra, Nicola Modugno, Marco Aguggia, Daniela Cassano, Giovanni Defazio, Laura Avanzino, Di Biasio F., Marchese R., Abbruzzese G., Baldi O., Esposito M., Silvestre F., Tescione G., Berardelli A., Fabbrini G., Ferrazzano G., Pellicciari R., Eleopra R., Devigili G., Bono F., Santangelo D., Bertolasi L., Altavista M.C., Moschella V., Barone P., Erro R., Albanese A., Scaglione C., Liguori R., Cotelli M.S., Cossu G., Ceravolo R., Coletti Moja M., Zibetti M., Pisani A., Petracca M., Tinazzi M., Maderna L., Girlanda P., Magistrelli L., Misceo S., Romano M., Minafra B., Modugno N., Aguggia M., Cassano D., Defazio G., and Avanzino L.
Subjects: 0301 basic medicine, medicine.medical_specialty, SNi, cervical dystonia, Head tremor, spread, Sensory system, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Post-hoc analysis, medicine, pain, Cervical dystonia, Sensory trick, lcsh:Neurology. Diseases of the nervous system, Dystonia, Neck pain, sensory trick, business.industry, medicine.disease, tremor, nervous system diseases, 030104 developmental biology, Neurology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Introduction: Cervical dystonia (CD) is one of the most common forms of adult-onset isolated dystonia. Recently, CD has been classified according to the site of onset and spread, in different clinical subgroups, that may represent different clinical entities or pathophysiologic subtypes. In order to support this hypothesis, in this study we have evaluated whether different subgroups of CD, that clinically differ for site of onset and spread, also imply different sensorimotor features. Methods: Clinical and demographic data from 842 patients with CD from the Italian Dystonia Registry were examined. Motor features (head tremor and tremor elsewhere) and sensory features (sensory trick and neck pain) were investigated. We analyzed possible associations between motor and sensory features in CD subgroups [focal neck onset, no spread (FNO-NS); focal neck onset, segmental spread (FNO-SS); focal onset elsewhere with segmental spread to neck (FOE-SS); segmental neck involvement without spread (SNI)]. Results: In FNO-NS, FOE-SS, and SNI subgroups, head tremor was associated with the presence of tremor elsewhere. Sensory trick was associated with pain in patients with FNO-NS and with head tremor in patients with FNO-SS. Conclusion: The frequent association between head tremor and tremor elsewhere may suggest a common pathophysiological mechanism. Two mechanisms may be hypothesized for sensory trick: a gating mechanism attempting to reduce pain and a sensorimotor mechanism attempting to control tremor.
Published: 2020

41. Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Author: Francesca Di Biasio, Roberto Ceravolo, Giovanni Fabbrini, Valentina Durastanti, Fiore Manganelli, Marcello Esposito, Maria Concetta Altavista, Marcello Mario Mascia, Nicola Tambasco, Alberto Albanese, Luca Maderna, Roberta Pellicciari, Cesa Scaglione, Tommaso Ercoli, Anna Castagna, Stefania Lalli, Marcello Romano, Paolo Girlanda, Giulio Demonte, Michele Tinazzi, Alfredo Berardelli, Francesca Morgante, Laura Bertolasi, Maria Cotelli, Antonio Pisani, Marinella Turla, Valentina Oppo, Marco Aguggia, Paolo Barone, Giovanni Cossu, Nicola Modugno, Francesco Silvestre, Maurizio Zibetti, Salvatore Misceo, Roberto Eleopra, Grazia Devigili, Giulia Di Lazzaro, Roberta Marchese, Giovanna Squintani, Gina Ferrazzano, Daniela Cassano, Luca Magistrelli, Domenico Santangelo, P. Barbero, Sonia Mazzucchi, Giovanni Defazio, Roberto Erro, Francesco Bono, Brigida Minafra, Martina Petracca, Anna Rita Bentivoglio, Mario Coletti Moja, Laura Avanzino, Defazio, G., Fabbrini, G., Erro, R., Albanese, A., Barone, P., Zibetti, M., Esposito, M., Pellicciari, R., Avanzino, L., Bono, F., Eleopra, R., Bertolasi, L., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Scaglione, C., Bentivoglio, A. R., Cossu, G., Coletti Moja, M., Girlanda, P., Misceo, S., Pisani, A., Mascia, M. M., Ercoli, T., Tinazzi, M., Maderna, L., Minafra, B., Magistrelli, L., Romano, M., Aguggia, M., Tambasco, N., Castagna, A., Cassano, D., Berardelli, A., Ferrazzano, G., Lalli, S., Silvestre, F., Manganelli, F., Di Biasio, F., Marchese, R., Demonte, G., Santangelo, D., Devigili, G., Durastanti, V., Turla, M., Mazzucchi, S., Petracca, M., Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., and Modugno, N.
Subjects: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Injury, Trauma, 03 medical and health sciences, 0302 clinical medicine, Dystonia, Acute Disease, Aged, Dystonic Disorders, Female, Humans, Italy, Middle Aged, Peripheral Nerve Injuries, Retrospective Studies, Risk Factors, Registries, otorhinolaryngologic diseases, Medicine, Risk factor, Medical attention, Secondary Dystonia, business.industry, medicine.disease, nervous system diseases, Peripheral, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neurology (clinical), Geriatrics and Gerontology, business, Acute trauma, 030217 neurology & neurosurgery
Abstract: Background Acute peripheral trauma is a controversial risk factor for idiopathic dystonia. Materials and methods We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia. Results Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. 12/200, p = 0.3) and the overall number of injuries (145 for the 1382 idiopathic patients and 14 for the 200 patients with secondary dystonia, p = 0.2). Most traumas occurred before the onset of idiopathic or secondary dystonia but only a minority of such injuries (14 in the idiopathic group, 2 in the acquired group, p = 0.6) affected the same body part as that affected by dystonia. In the idiopathic group, the elapsed time between trauma and dystonia onset was 8.1 ± 9.2 years; only six of the 145 traumas (4.1%) experienced by 5/1382 idiopathic patients (0.36%) occurred one year or less before dystonia onset; in the acquired dystonia group, the two patients experienced prior trauma to the dystonic body part 5 and 6 years before dystonia development. Discussion and conclusion Our data suggest that the contribution of peripheral acute trauma to idiopathic dystonia is negligible, if anything, and likely involves only a small subset of patients.
Published: 2020

42. CSF angiogenin levels in amyotrophic lateral Sclerosis-Frontotemporal dementia spectrum

Author: Davide Soranna, Laura Carelli, Luca Maderna, Cinzia Tiloca, Antonella Zambon, Claudia Morelli, Alberto Doretti, Federica Solca, Federico Verde, Annalisa Lafronza, Barbara Poletti, Vincenzo Silani, Antonia Ratti, Nicola Ticozzi, Claudia Colombrita, Morelli, C, Tiloca, C, Colombrita, C, Zambon, A, Soranna, D, Lafronza, A, Solca, F, Carelli, L, Poletti, B, Doretti, A, Verde, F, Maderna, L, Ticozzi, N, Ratti, A, and Silani, V
Subjects: Male, Pathology, medicine.medical_specialty, genetic structures, Angiogenin, CSF biomarker, Mice, Transgenic, frontotemporal dementia, Cohort Studies, Neovascularization, 03 medical and health sciences, 0302 clinical medicine, Neurotrophic factors, mental disorders, medicine, Animals, Humans, amyotrophic lateral sclerosi, Amyotrophic lateral sclerosis, C9orf72 Protein, business.industry, Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, nutritional and metabolic diseases, Ribonuclease, Pancreatic, medicine.disease, eye diseases, Neurology, sense organs, Neurology (clinical), medicine.symptom, business, hormones, hormone substitutes, and hormone antagonists, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract: Objective: Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1G93A mice have linked ANG to the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), stimulating interest in considering circulating ANG levels as an ALS disease biomarker although robust evidence is still lacking. Aim of our study was to assess differences of ANG levels in the cerebrospinal fluid (CSF) of a large cohort of patients with ALS and frontotemporal dementia (FTD) compared to controls and to explore correlations between ANG content and disease-related clinical variables. Methods: ANG levels were measured in CSF samples using a commercially available ELISA kit in 88 patients affected with ALS and/or FTD and 46 unrelated individuals (control group). Results: ANG levels didn’t differ significantly between cases and controls. Patients with FTD or ALS-FTD showed significantly increased CSF concentration of ANG compared to ALS patients without dementia and controls in a multivariate regression model (p found in ALS/FTD patients between ANG levels and clinical parameters, including age, presence of C9orf72 repeat expansion, body mass index (BMI). Conclusions: our findings highlight a role of ANG as CSF biomarker useful to identify ALS patients with concurrent FTD and suggest that it should be further explored as potential biomarker for FTD.
Published: 2019
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43. A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Author: Andrea Ciammola, Davide Sangalli, Jenny Sassone, Barbara Poletti, Laura Carelli, Paolo Banfi, Gabriele Pappacoda, Isabella Ceccherini, Alice Grossi, Luca Maderna, Monica Pingue, Floriano Girotti, Vincenzo Silani, Ciammola, A., Sangalli, D., Sassone, J., Poletti, B., Carelli, L., Banfi, P., Pappacoda, G., Ceccherini, I., Grossi, A., Maderna, L., Pingue, M., Girotti, F., and Silani, V.
Subjects: 0301 basic medicine, Pathology, medicine.medical_specialty, leukodystrophy, Ataxia, adult onset, Case Report, Neurological disorder, Biology, Gene mutation, medicine.disease_cause, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Alexander disease, medicine, GFAP-glial fibrillary acidic protein, gene mutation, lcsh:Neurology. Diseases of the nervous system, Mutation, Point mutation, Leukodystrophy, medicine.disease, 030104 developmental biology, Neurology, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery
Abstract: Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 years), and adult (>13 years). The three forms differ in symptoms and prognosis. Rapid neurological decline with a fatal course characterizes the early-onset forms, while symptoms are milder and survival is longer in the adult forms. Currently, the sole known cause of AxD is mutations in the GFAP gene, which encodes a type III intermediate filament protein that is predominantly expressed in astrocytes. A wide spectrum of GFAP mutations comprising point mutations, small insertions, and deletions is associated with the disease. The genotype-phenotype correlation remains unclear. The considerable heterogeneity in severity of disease among individuals carrying identical mutations suggests that other genetic or environmental factors probably modify age at onset or progression of AxD. Describing new cases is therefore important for establishing reliable genotype-phenotype correlations and revealing environmental factors able to modify age at onset or progression of AxD. We report the case of a 54-year-old Caucasian woman, previously diagnosed with ovarian cancer and treated with surgery and chemotherapy, who developed dysarthria, ataxia, and spastic tetraparesis involving mainly the left side. Cerebral and spinal magnetic resonance imaging (MRI) revealed a peculiar tadpole-like atrophy of the brainstem. Genetic analysis of the GFAP gene detected a heterozygous mutation in exon 1 (c.219G>C), resulting in an amino acid exchange from methionine to isoleucine at codon 73 (p.M73I). The expression of this mutant in vitro affected the formation of the intermediate filament network. Thus, we have identified a new GFAP mutation in a patient with an adult form of AxD.
Published: 2019

44. Diagnostic criteria for amyotrophic lateral sclerosis: a multicentre study of inter-rater variation and sensitivity

Author: Ian S. Schofield, Luca Maderna, Alon Abraham, Anders Fuglsang-Frederiksen, Vivian E. Drory, David Czell, W. Nix, Kirsten Pugdahl, Jean-Philippe Camdessanché, Markus Weber, Michael Swash, Reinhard Dengler, Lejla Paracka, Birger Johnsen, M. de Carvalho, Rocco Liguori, Christoph Neuwirth, Katja Kollewe, Johnsen, B., Pugdahl, K., Fuglsang-Frederiksen, A., Kollewe, K., Paracka, L., Dengler, R., Camdessanché, J.P., Nix, W., Liguori, R., Schofield, I., Maderna, L., Czell, D., Neuwirth, C., Weber, M., Drory, V.E., Abraham, A., Swash, M., and de Carvalho, M.
Subjects: Male, medicine.medical_specialty, Internationality, Diagnostic criteria, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, Electrodiagnosi, Humans, Medicine, 0501 psychology and cognitive sciences, Sensitivity (control systems), Amyotrophic lateral sclerosis, Physician's Role, Amyotrophic lateral sclerosi, Aged, Observer Variation, Electromyography, business.industry, Electrodiagnosis, Amyotrophic Lateral Sclerosis, 05 social sciences, Reproducibility of Results, Middle Aged, Revised El Escorial criteria, medicine.disease, Awaji criteria, Sensory Systems, Clinical Practice, Inter-rater reliability, Neurology, Female, Neurology (clinical), Inter-rater variation, Sensory System, business, 030217 neurology & neurosurgery, Kappa, Follow-Up Studies
Abstract: Objective This study assesses inter-rater agreement and sensitivity of diagnostic criteria for amyotrophic lateral sclerosis (ALS). Methods Clinical and electrophysiological data of 399 patients with suspected ALS were collected by eleven experienced physicians from ten different countries. Eight physicians classified patients independently and blinded according to the revised El Escorial Criteria (rEEC) and to the Awaji Criteria (AC). Inter-rater agreement was assessed by Kappa coefficients, sensitivity by majority diagnosis on 350 patients with follow-up data. Results Inter-rater agreement was generally low both for rEEC and AC. Agreement was best on the categories “Not-ALS”, “Definite”, and “Probable”, and poorest for “Possible” and “Probable Laboratory-supported”. Sensitivity was equal for rEEC (64%) and AC (63%), probably due to downgrading of “Probable Laboratory-supported” patients by AC. However, AC was significantly more effective in classifying patients as “ALS” versus “Not-ALS” (p Conclusions Inter-rater variation is high both for rEEC and for AC probably due to a high complexity of the rEEC inherent in the AC. The gain of AC on diagnostic sensitivity is reduced by the omission of the “Probable Laboratory-supported” category. Significance The results highlight a need for initiatives to develop simpler and more reproducible diagnostic criteria for ALS in clinical practice and research.
Published: 2018

45. MRI abnormalities found 1 year prior to symptom onset in a case of Creutzfeldt–Jakob disease

Author: Federico Verde, Andrea Falini, Vincenzo Silani, Fabio Moda, Elisa Scola, Floriano Girotti, Stefano Messina, Luca Maderna, Fabrizio Tagliavini, Narghes Calcagno, Nicola Ticozzi, Verde, F, Ticozzi, N, Messina, S, Calcagno, N, Girotti, F, Maderna, L, Moda, F, Scola, E, Falini, Andrea, Tagliavini, F, and Silani, V.
Subjects: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Neurology, business.industry, MEDLINE, Posterior reversible encephalopathy syndrome, Disease, Ideomotor apraxia, Creutzfeldt-Jakob Syndrome, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroradiology, Visual agnosia
Published: 2016

46. Neuromyotonia, systemic lupus erythematosus and acetylcholine-receptor antibodies

Author: Stefano Amadio, Giuseppe Magnani, Letizia Leocani, T. Locatelli, Giancarlo Comi, Raffaello Nemni, Luca Maderna, Nicola Canal, Magnani, G, Nemni, R, Leocani, ANNUNZIATA MARIA LETIZIA, Amadio, S, Locatelli, T, Maderna, L, Canal, N, and Comi, Giancarlo
Subjects: medicine.medical_specialty, Neurology, Anti-nuclear antibody, Neuromyotonia, biology, business.industry, medicine.disease, Blisibimod, Immunology, medicine, biology.protein, Neurology (clinical), Antibody, business, Anti-SSA/Ro autoantibodies, Neuroradiology, Acetylcholine receptor
Published: 1998

47. MRI and motor evoked potential findings in nondisabled multiple sclerosis patients with and without symptoms of fatigue

Author: Luca Maderna, Paolo Rossi, Bruno Colombo, Filippo Martinelli Boneschi, Marco Rovaris, Massimo Filippi, Giancarlo Comi, Colombo, B, MARTINELLI BONESCHI, F, Rossi, P, Rovaris, M, Maderna, L, Filippi, Massimo, and Comi, Giancarlo
Subjects: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Internal capsule, Neurology, Adolescent, Severity of Illness Index, Central nervous system disease, Lesion, Internal medicine, medicine, Humans, Evoked potential, Fatigue, Cerebral Cortex, Expanded Disability Status Scale, medicine.diagnostic_test, Multiple sclerosis, Magnetic resonance imaging, Middle Aged, Evoked Potentials, Motor, medicine.disease, Magnetic Resonance Imaging, Surgery, Cardiology, Female, Neurology (clinical), medicine.symptom, Psychology
Abstract: Fatigue is a common symptom of multiple sclerosis (MS) even in the early phases of the disease, when neurological disability is usually still not present. To investigate the pathophysiology of fatigue we compared neurophysiological (motor evoked potentials of the four limbs, MEPs) and brain magnetic resonance imaging (MRI) findings in two groups of nondisabled MS patients, those with (n=15) and those without (n=15) fatigue. Fatigue was assessed by an interview and scored by the Fatigue Severity Scale. The two groups were matched for sex, age, disease duration, Expanded Disability Status Scale score, pyramidal Functional System (FS) score, and depression score. MEPs were abnormal in five patients with fatigue and in one patient without fatigue. A significant association was found between the patient scores on the Fatigue Severity Scale, and the burden of MRI lesions (r=0.5; P< 0.005). Significantly higher parietal lobe (P< 0.05), internal capsule (P< 0.05), and periventricular trigone (P< 0.05) lesion loads were found in patients with fatigue than in those without. Our results agree with a central nervous system origin of fatigue in MS patients. This symptom might be a consequence either of a functional deafferentation of the cortex due to cortico-subcortical interconnection damage or of a demyelination in critical sites of the CNS, such as the cortico-spinal tract.
Published: 2000

48. Repeatability of surface EMG variables during voluntary isometric contractions of the biceps brachii muscle

Author: Alberto Rainoldi, Roberto Merletti, Giuseppe Galardi, G. Comi, Luca Maderna, L.R. Lo Conte, Rainoldi, A, Galardi, G, Maderna, L, Comi, Giancarlo, LO CONTE, L, and Merletti, R.
Subjects: Adult, Male, medicine.medical_specialty, Contraction (grammar), Intraclass correlation, Biophysics, Neuroscience (miscellaneous), Electromyography, Isometric exercise, Biceps, Internal medicine, Isometric Contraction, Statistics, medicine, Humans, Muscle, Skeletal, Mathematics, medicine.diagnostic_test, Reproducibility of Results, Signal Processing, Computer-Assisted, Repeatability, Standard error, Turnover, Cardiology, Arm, Neurology (clinical)
Abstract: The repeatability of initial value and rate of change of mean spectral frequency (MNF), average rectified values (ARV) and muscle fiber conduction velocity (CV) was investigated in the dominant biceps brachii of ten normal subjects during sustained isometric voluntary contractions. Four levels of contraction were studied: 10%, 30%, 50% and 70% of the maximal voluntary contraction level (MVC). Each contraction was repeated three times in each of three different days for a total of nine contractions/level/subject and 90 contractions per level across the ten subjects. Repeatability was investigated using the Intraclass Correlation Coefficient (ICC) and the standard error of the mean (SEM) of the estimates for each subject. Contrary to observations in other muscles, CV estimates appeared to be very repeatable both within and between subjects. CV showed a small but significant increase when contraction force increased from 10% to 50% MVC but no change for further increase of force. As force increased, MNF showed a slight decrease possibly related to a wider spreading of the CV values. The rate of time decrement of MNF and CV increased with the level of contraction. The normalized decrement (% of initial value per second) was in general higher for MNF than for CV and was more repeatable between subjects at 10% MVC than at 70% MVC. A final observation is that a resting time of 5 minutes may not be sufficient after a contraction at 50% or 70% MVC.
Published: 1999

49. Electrophysiologic studies in tarsal tunnel syndrome. Diagnostic reliability of motor distal latency mixed nerve and sensory nerve conduction studies

Author: M V Meraviglia, Luca Maderna, Giuseppe Galardi, G. Comi, L Brunati, Stefano Amadio, G. Dal Conte, Galardi, G, Amadio, S, Maderna, L, Meraviglia, Mv, Brunati, L, DAL CONTE, G, and Comi, Giancarlo
Subjects: Neural Conduction, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Rehabilitation, Physical Therapy, Sports Therapy and Rehabilitation, Tarsal tunnel syndrome, Electromyography, Somatosensory system, medicine.disease, Nerve conduction velocity, Surgery, medicine.anatomical_structure, Anesthesia, medicine, Tibial nerve, Carpal tunnel syndrome, business, Sensory nerve
Abstract: The tarsal tunnel syndrome (TTS) is an entrapment of the posterior tibial nerve at the ankle, which, like carpal tunnel syndrome, improves with surgery but needs an instrumental diagnosis to exclude other diseases. This study was performed to evaluate the diagnostic value of nerve conduction tests proposed for the diagnosis of TTS. Of the 13 patients who were investigated 12 had secondary unilateral and 1 idiopathic bilateral TTS. One or more neurophysiologic parameters were abnormal in all cases. The diagnostic value of each neurophysiologic parameter was calculated by comparing conduction on the affected side with conduction on the healthy side of each patient with TTS. The accuracies of the sensory nerve action potential and mixed nerve action potential, both after stimulation of the plantar nerves, were almost the same, with sensory nerve action potentials more sensitive and less specific and mixed nerve action potentials less sensitive and more specific. Because from the clinical point of view we must be more afraid of false-positive results, the mixed nerve action potential is recommended for presurgical diagnosis of TTS. Coexistence of mixed nerve and sensory nerve action potential abnormalities, especially if asymmetric, are highly indicative of TTS.
Published: 1994

50. Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.

Author: Casiraghi V, Milone I, Brusati A, Peverelli S, Doretti A, Poletti B, Maderna L, Morelli C, Ticozzi N, Silani V, Verde F, and Ratti A
Subjects: Humans, Female, Male, Middle Aged, Aged, Biomarkers blood, Cohort Studies, Adult, Nerve Tissue Proteins, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis blood, Amyotrophic Lateral Sclerosis diagnosis, Neurofilament Proteins blood, Neurofilament Proteins genetics, Polymorphism, Single Nucleotide, DNA-Binding Proteins genetics, DNA-Binding Proteins blood, Genotype
Abstract: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative condition affecting upper and/or lower motor neurons and characterized neuropathologically by TDP-43 proteinopathy. Given its role in ALS pathobiology, it is currently under debate whether TDP-43 might represent a suitable ALS biomarker to be measured in patients' biofluids. The rs12608932 A > C single nucleotide polymorphism in the UNC13A gene is a risk factor for ALS and patients homozygous for the high-risk C allele display a higher burden of TDP-43 neuropathology than homozygotes for the low-risk A allele, although the association with TDP-43 levels in biofluids has never been evaluated. In this study, we measured serum levels of TDP-43 and neurofilament light chain (NFL) by Simoa technology in a cohort of 69 ALS patients stratified according to the UNC13A rs12608932 genotype compared to 43 neurologically healthy controls. By multiple linear regression analysis, serum TDP-43 was significantly elevated in ALS patients compared to controls, with UNC13A AA and AC, but not CC, ALS patients showing higher serum TDP-43 levels than controls. We also confirmed that serum NFL concentration was increased in ALS patients, without any correlation with the UNC13A genotype. Our results indicate that serum TDP-43 is higher in ALS patients compared to controls and that, in contrast to NFL, this increase is specifically associated with the UNC13A rs12608932 AA and AC genotypes, but not with the high-risk CC genotype. Studies in larger cohorts will be needed to confirm these findings and to elucidate the biological link between serum TDP-43 levels and UNC13A genotype., Competing Interests: Declaration of competing interest FV is Associate Editor of Journal of Alzheimer's Disease. The other Authors declare that they have no competing interests., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Published: 2024
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