Search

Your search keyword '"Di Paolantonio, Andrea"' showing total 44 results
Start Over Author "Di Paolantonio, Andrea"
44 results on '"Di Paolantonio, Andrea"'

5. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, Berk, John L, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Douglas, Victory, Jennifer, Dalton, James, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, Conceição, Isabel M, Lopes, Ana, Lamas, Filipa, Neves, Carlos, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Santos, Miguel Oliveira, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, Perez, Javier M, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, Monte, Julia R, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Celine, Not, Adeline, Al-Salameh, Abdallah, Lecoq, Anne-Lise, Stephant, Maeva, Echaniz-Laguna, Andoni, Becquemont, Laurent, Beaudonnet, Guillemette, Algalarrondo, Vincent, Eliahou, Ludivine, Slama, Michel S, Rousseau, Antoine, Signate, Aissatou, Berthelot, Emeline, Inamo, Jocelyn, Planté-Bordeneuve, Violaine, Vervoitte, Laetitia, Focseneanu, Cecile, Gendre, Thierry, Arrouasse, Raphaele, Ayache, Samar S., Ernande, Laura, Le Corvoisier, Philippe, Salhi, Hayet, Choumert, Ariane, Ehinger, Vincent, Ruiz, Julie, Charlin, Cyril, Megelin, Thomas, Brannagan III, Thomas H, Fayerman, Raisy, Kim, Arreum, Paras, Allan, Gonzalez, Leidy J, Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna, Weimer, Louis, Cioroiu, Comana, Lambrianides, Sakis, Abu-Manneh, Rana, Zamba-Papanicolaou, Eleni, Agathangelou, Petros, Leonidou, Eleni, Tada, Satoshi, Fujita, Akemi, Nagai, Masahiro, Ando, Rina, Hosokawa, Yuko, Yamanishi, Yuki, Overcash, J. Scott, Giardino, Elena, Boyer, Leslie, Dang, Lien, Le, An, Nguyen, Tyler, Giang, Lien, Sellers, Peter, Tran, Leyla, Truong, Nghi, Vinas, Maita, Hrkman, Nicole, Miller, Sarah, Nguyen, David, Smith, Ashley, Pu, Helen, Li, Steve, Vuong, Thao, Dioso, Holly, Green, Sinikka, Lee, Kia, Chu, Hanh, Waters, Michael, Coskun, Derya J, Zepeda, Karla A, O'Riordan, William, Obici, Laura, Cortese, Andrea, Lozza, Alessandro, Merlini, Giampaolo, Rosti, Vittorio, Sabatelli, Mario, Bisogni, Giulia, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Nienhuis, Hans, Bulthuis-Kuiper, Janita, Kristen, Arnt V, Gerk, Olga, Ulbricht, Hannah, Taylor, Lenka, Meyle, Eva, Kleinschmidt, Natalia, Meyrath, David, Noe-Schwenn, Simone, Meng, Ulrike, Bauer, Ralf, aus dem Siepen, Fabian, Hein, Selina, Takahashi, Tetsuya, Oshita, Tomohiko, Koujin, Yoko, Neshige, Shuichiro, Nezu, Tomohisa, Segawa, Akiko, Ueno, Hiroki, Morino, Hiroyuki, Campistol, Josep M, Rodas Marin, Lida Maria, Blasco Pelicano, Josep Miquel, Dávila, Lucía Galán, Palacios, Marta, Pytel Cordoba, Vanesa, Guerrero Sola, Antonio, Horga, Alejandro, García Feijoo, Julián, Perez de Isla, Leopoldo, Marques Júnior, Wilson, Moscardini, Mariana, Litcanov, Debora Cristina, Viera Lima, Ana Flavia, Rodrigues, Leonardo, Marques Coutinho, Barbara, Moreira, Carolina Lavigne, Daccach Marques, Vanessa, Munoz Beamud, Francisco, Gragera Martínez, Álvaro, Borrachero, Cristina, Losada López, Inés Asunción, Cisneros Barroso, Eugenia, Rodríguez Rodríguez, Adrián, Sanz, Monica, Rigo Oliver, Elena, González Moreno, Juan, Gamez Martinez, Jose M, Descals, Cristina, Uson, Mercedes, Jose Vega, Francisco, Figuerola, Antoni, Montala, Carles, Waddington-Cruz, Márcia, Dias da Silva, Moises, Gervais de Santa Rosa, Renata, Pinto, Luiz Felipe, Pinto, Marcus Vinicius, Cardoso Berensztejn, Amanda, Barroso, Fabio, Lautre, Andrea, Orellana, Lucas G, González-Duarte Briseño, Maria Alejandra, Cárdenas-Soto, Karla, Jiménez López, Brenda Poled, Pérez-Castañeda, Sandra Lorena, Cantú Brito, Carlos Gerardo, Rivera de la Parra, David, Hernandez Reyes, Jose Pablo, del Mar Saniger Alba, Maria, Criollo Mora, Elia, Parman, Yesim, Rezzan, Kus Jülide, Sahin, Erdi, Serbest, Nail G, Durmus, Hacer, Cakar, Arman, Tugal Tutkun, Nuriye Ilknur, Karamursel, Sacit, Elitok, Ali, Sirin Inan, Nermin G, Altinkurt, Emre, Polydefkis, Michael, Ye, Jing, Allen, Adriane C, Chaudhry, Vinay, Jarrett, Raquel, Bressler, Neil, Burks, Kathleen L, Liu, Qingfeng, Khoshnoodi, Mohammad, Judge, Daniel P, Vista, Geno, Shah, Syed Mahmood, Hamaguchi, Hirotoshi, Oda, Junko, Fukase, Emi, Taniguchi, Ikuko, Oda, Tetsuya, Endo, Hironobu, Shimomura, Masahiro, Katanazaka, Kimitaka, Koto, Shusuke, Nakano, Takahiro, Scheid, Christof, Zueiter, Andreas, Pester, Lars, Walter, Doreen, Özdemir, Betül, Frenzel, Lukas F, Holtick, Udo, Oh, Jeeyoung, Kim, Hee Jin, Shin, Hyun Jin, Choi, Kyomin, Yamashita, Taro, Ueda, Mitsuharu, Masuda, Teruaki, Misumi, Yohei, Ueda, Akihiko, Nakahara, Keiichi, Yorita, Akiko, Tsuruhisa, Seiko, Taniwaki, Takayuki, Harada, Masaya, Moritaka, Taiga, Sakurada, Naonori, Mauricio, Elizabeth A, Baskin, Amber, Dimberg, Elliot, Dispenzieri, Angela, Fonder, Amie, Hobbs, Miriam, Russell, Stephen J, Dyck, Peter, Gonsalves, Wilson, Leung, Nelson, Witzig, Thomas E, Zeldenrust, Steven R, Hwa, Lisa, Kapoor, Prashant, Kumar, Shaji K, Lin, Yi, Lust, John A, Rajkumar, Vincent S, Dingli, David, Gertz, Morie A, Go, Ronald, Hayman, Suzanne R, Dalia, Samir, Carrillo, Esmeralda, Gorevic, Peter, Mason, Garnette, Chao, Chi-Chao, Lee, Ming-Jen, Su, Jen-Jen, Hsieh, Sung-Tsang, Tsai, Li-Kai, Yeh, Shin-Joe, Yang, Chih-Chao, Ajroud-Driss, Senda Ajroud-Driss, Casey, Patricia, Joslin, Benjamin C, Freimer, Miriam, Sankey, Alison, Kenepp, Amanda, Heintzman, Sarah, LoRusso, Samantha, Hokezu, Youichi, Kim, Byoung-Joon, Kim, JuHyeon, Lee, Ga Yeon, Cho, Eun Bin, Jeon, Eun-Seok, Min, Ju-Hong, Seok, Jin Myoung, Lee, Hye Lim, Park, Jae Hong, Sekijima, Yoshiki, Miyazawa, Chinatsu, Kato, Nagaaki, Kishida, Dai, Hineno, Akiyo, Kodaira, Minori, Yoshinaga, Tsuneaki, Miyahara, Teruyoshi, Imai, Akira, Matsumoto, Kazuhiko, Lin, Kon-Ping, Lee, Yi-Chung, Wixner, Jonas, Falk, Malin, Pilebro, Bjorn, Suhr, Ole, Lindqvist, Per, Soderberg, Karin, Pedrosa-Domellöf, Fatima, Anan, Intissar, Nordh, Erik, Tournev, Ivaylo, Zhelyazkova-Glaveeva, Sashka, Cherneva, Zheyna, Sarafov, Staiko, Chamova, Teodora, Cherninkova-Gopina, Sylvia, Schmidt, Hartmut H, Friebel, Frauke, Zibert, Andree, Mihailovic, Natasa, Schubert, Friederike, Vorona, Elena, Lahme, Larissa, Huesing-Kabar, Anna, Schilling, Matthias, Kabar, Iyad, Gillmore, Julian D, Martinez-Naharro, Ana, Chacko, Liza, Cohen, Oliver, Law, Steven, Rezk, Tamer, Lachmann, Helen J, Quan, Dianna, Blume, Brianna, Dixon, Stacy, Low, Soon Chai, Chan, Soo Looi, Lim, He Eng Li, Goh, Khean Jin, Mezei, Michelle M, Kraus, Deborah, Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Zwijack, Brittany, Florence, Julaine, Sommerville, R. Brian, Stewart, Graeme, Ryder, Julie, Mekhael, Linda, Taylor, Mark, Suan, Daniel, Wells, Karen, Stone, Paula, Itoya, Amenze, Owusu-Sekyere, Mercy, Thai, Desmond, Chahine, Ilonah, Pedrosa, Salve, Do, Thi Hoa (Therese), González-Duarte, Alejandra, Kyriakides, Theodoros, Ajroud-Driss, Senda, Mauricio, Elizabeth, Brannagan, Thomas H, III, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, and Sweetser, Marianne T

Published
2021
Full Text
View/download PDF

7. Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Author

Gentile, Luca, primary, Diemberger, Igor, additional, Plante-Bordeneuve, Violaine, additional, Mazzeo, Anna, additional, Dori, Amir, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Dispenzieri, Angela, additional, Grogan, Martha, additional, Waddington Cruz, Márcia, additional, Adams, David, additional, Inamo, Jocelyn, additional, Kristen, Arnt V., additional, Lino Cirami, Calogero, additional, Chapman, Doug, additional, Gupta, Pritam, additional, Glass, Oliver, additional, and Amass, Leslie, additional

Published
2024
Full Text
View/download PDF

8. Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset

Author

Romano, Angela, primary, Guglielmino, Valeria, additional, Bisogni, Giulia, additional, Di Paolantonio, Andrea, additional, Truini, Andrea, additional, Minnella, Angelo Maria, additional, Sciarrone, Maria Ausilia, additional, Vitali, Francesca, additional, Maceroni, Martina, additional, Galosi, Eleonora, additional, Sabatelli, Mario, additional, and Luigetti, Marco, additional

Published
2023
Full Text
View/download PDF

9. Central nervous system involvement in two siblings affected by hereditary transthyretin amyloidosis 30 years after liver transplantation: a model for gene-silencing therapies

Author

Di Paolantonio, Andrea, Romano, A., Guglielmino, Valeria, Vitali, F., Sciarrone, Maria Ausilia, Bisogni, G., Verdolotti, Tommaso, Maceroni, Martina, Minnella, Angelo Maria, Luigetti, Marco, Di Paolantonio A., Guglielmino V., Sciarrone M. A., Verdolotti T., Maceroni M., Minnella A. M. (ORCID:0000-0001-5896-5313), Luigetti M. (ORCID:0000-0001-7539-505X), Di Paolantonio, Andrea, Romano, A., Guglielmino, Valeria, Vitali, F., Sciarrone, Maria Ausilia, Bisogni, G., Verdolotti, Tommaso, Maceroni, Martina, Minnella, Angelo Maria, Luigetti, Marco, Di Paolantonio A., Guglielmino V., Sciarrone M. A., Verdolotti T., Maceroni M., Minnella A. M. (ORCID:0000-0001-5896-5313), and Luigetti M. (ORCID:0000-0001-7539-505X)

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is a genetic, autosomal dominant, severe disease characterized by progressive sensory-motor polyneuropathy, cardiomyopathy, dysautonomia, renal and eyes involvement, provoked by the deposition of the mutated and unstable transthyretin protein. In past decades, liver transplant, avoiding the synthesis of the pathologic protein, has been a good, even if not resolutive, treatment. In this report we describe two siblings affected with ATTRv, who developed first symptoms of disease at a young age and underwent a liver transplant with prompt resolution of clinical manifestations. After several years, central nervous system and eyes symptoms relapsed despite treatment, considering that the synthesis of mutated protein continues in choroid plexus, a locum where current therapies are unable to act. In our opinion, these cases represent a long-term prognostic model for the novel gene-silencers approved for ATTRv, because they share a similar therapeutic effect with liver transplant: the block of mutated protein synthesis limited only in the main transthyretin (TTR) production organ is able to prevent the progression of disease only for some years, but not to avoid long-term clinical worsening due to extra-hepatic production of TTR. Novel future therapeutic strategies are demanded to guarantee a better long-term stabilization of symptomatology.

Published
2023

10. Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation

Author

Tozza, Stefano, primary, Luigetti, Marco, additional, Antonini, Giovanni, additional, Mazzeo, Anna, additional, Severi, Daniele, additional, Di Paolantonio, Andrea, additional, Leonardi, Luca, additional, Russo, Massimo, additional, Romano, Angela, additional, Forcina, Francesca, additional, Gentile, Luca, additional, Nolano, Maria, additional, Mattia, Consalvo, additional, and Manganelli, Fiore, additional

Published
2023
Full Text
View/download PDF

11. Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience

Author

Romano, Angela, primary, Guglielmino, Valeria, additional, Di Paolantonio, Andrea, additional, Bisogni, Giulia, additional, Sabatelli, Mario, additional, Della Marca, Giacomo, additional, Minnella, Angelo Maria, additional, Maceroni, Martina, additional, Bellavia, Simone, additional, Scala, Irene, additional, Sabatelli, Eleonora, additional, Rollo, Eleonora, additional, and Luigetti, Marco, additional

Published
2022
Full Text
View/download PDF

12. Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects

Author

Luigetti, Marco, primary, Guglielmino, Valeria, additional, Romozzi, Marina, additional, Romano, Angela, additional, Di Paolantonio, Andrea, additional, Bisogni, Giulia, additional, Sabatelli, Eleonora, additional, Modoni, Anna, additional, Sabatelli, Mario, additional, Servidei, Serenella, additional, and Lo Monaco, Mauro, additional

Published
2022
Full Text
View/download PDF

14. Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience

Author

Romano, Angela, Guglielmino, Valeria, Di Paolantonio, Andrea, Bisogni, Giulia, Sabatelli, Mario, Della Marca, Giacomo, Minnella, Angelo Maria, Maceroni, Martina, Bellavia, Simone, Scala, Irene, Sabatelli, Eleonora, Rollo, Eleonora, Luigetti, Marco, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Minnella, Angelo Maria (ORCID:0000-0001-5896-5313), Luigetti, Marco (ORCID:0000-0001-7539-505X), Romano, Angela, Guglielmino, Valeria, Di Paolantonio, Andrea, Bisogni, Giulia, Sabatelli, Mario, Della Marca, Giacomo, Minnella, Angelo Maria, Maceroni, Martina, Bellavia, Simone, Scala, Irene, Sabatelli, Eleonora, Rollo, Eleonora, Luigetti, Marco, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Minnella, Angelo Maria (ORCID:0000-0001-5896-5313), and Luigetti, Marco (ORCID:0000-0001-7539-505X)

Abstract

Introduction Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystemic disease with great phenotypic heterogeneity. Among extra-neurological features, pupillary abnormalities have been reported, either related to amyloid deposition in the eye or to a progressive autonomic neuropathy. Objective To evaluate the role of automated pupillometry, a non-invasive and rapid test able to provide objective and reproducible data on pupil size and reactivity, as a marker of disease severity in late-onset ATTRv patients. Patients and methods We performed automated pupillometry on a cohort of ATTRv patients and pre-symptomatic TTR mutation carriers and compared results to healthy controls. An exhaustive clinical and instrumental evaluation was performed on all enrolled subjects. Results A statistically significant difference in most pupillometry parameters was found in ATTRv patients as compared to both carriers and healthy controls. Moreover, in ATTRv patients, we found a significant correlation between many pupillometry findings and disease duration, as well as widely accepted clinical scales and investigations (NIS, Sudoscan from feet, and Norfolk QoL-DN questionnaire). Conclusions We suggest pupillometry may play a role as a reliable and non-invasive biomarker to evaluate ATTRv disease severity and monitor its progression.

Published
2022

15. Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy

Author

Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano, Luigetti, Marco (ORCID:0000-0001-7539-505X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano, Luigetti, Marco (ORCID:0000-0001-7539-505X), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Background and purpose Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the transthyretin gene. Therapeutic agents approved for this disease include the TTR stabilizer tafamidis and the gene-silencing drugs patisiran and inotersen. Inotersen is an antisense oligonucleotide that suppresses the hepatic production of transthyretin. After European Medical Agency approval in 2018, an early-access program was opened in Italy, and in this article, we present the long-term outcome of a cohort of Italian ATTRv patients who received inotersen within this program. Methods This is a multicenter, observational, retrospective study of patients affected by ATTRv that started inotersen during the early-access program. The primary end point was safety. Secondary end points included change from baseline in familial amyloid polyneuropathy (FAP) stage, Polyneuropathy Disability, Neuropathy Impairment Scale, Compound Autonomic Dysfunction Test, Norfolk Quality of Life-Diabetic Neuropathy, troponin, N-terminal pro-brain natriuretic peptide, interventricular septum thickness, and body mass index. Results In total, 23 patients were enrolled. No patient permanently discontinued the treatment because of thrombocytopenia, and no cases of severe thrombocytopenia were observed. Five patients discontinued the treatment permanently because of voluntary withdrawal (two patients), renal failure after infective pyelonephritis, not related to inotersen, drug-related hypotension, and amyloid-negative crescentic glomerulonephritis. In seven patients, dosing frequency was reduced to every 2 weeks due to recurrent thrombocytopenia. Considering the FAP stage, only two patients worsened, whereas the other 21 patients remained stable until the last follow-up available. Conclusions The long-term safety profile of inotersen is favorable. Neurologic disease severity at baseline is the main factor associated with pro

Published
2022

16. Guillain–Barré syndrome from an emergency department view: how to better predict the outcome?

Author

Covino, Marcello, Romozzi, Marina, Simeoni, Benedetta, Di Paolantonio, Andrea, Sabatelli, Mario, Franceschi, Francesco, Luigetti, Marco, Marcello Covino (ORCID:0000-0002-6709-2531), Marina Romozzi, Andrea Di Paolantonio, Mario Sabatelli (ORCID:0000-0001-6635-4985), Francesco Franceschi (ORCID:0000-0001-6266-445X), Marco Luigetti (ORCID:0000-0001-7539-505X), Covino, Marcello, Romozzi, Marina, Simeoni, Benedetta, Di Paolantonio, Andrea, Sabatelli, Mario, Franceschi, Francesco, Luigetti, Marco, Marcello Covino (ORCID:0000-0002-6709-2531), Marina Romozzi, Andrea Di Paolantonio, Mario Sabatelli (ORCID:0000-0001-6635-4985), Francesco Franceschi (ORCID:0000-0001-6266-445X), and Marco Luigetti (ORCID:0000-0001-7539-505X)

Abstract

Objective In Guillain–Barre syndrome (GBS), respiratory failure is the most serious manifestation and mechanical ventilation (MV) is required in approximately 20% of the patients. In this retrospective study, we aimed to evaluate clinical factors that can be evaluated in the Emergency Department which may influence the short-term prognosis of GBS patients. Methods Data were acquired regarding age, sex, antecedent infections, neurological signs and symptoms, cerebrospinal fluid examination, nerve conduction studies, treatment of GBS, need for MV, length of stay in the hospital, and discharge destination (home or rehabilitation). Charlson Comorbidity Index and modified Erasmus GBS outcome score (mEGOS) were collected on admission. Results Seventy-eight GBS patients were recruited with a mean age of 53.9 (range 19-81). Sixty-nine (88.46%) were diagnosed with GBS and nine (11.54%) had classic Miller-Fisher syndrome. Mean values for the Charlson Comorbidity index were 1.20 ± 1.81, and the values of mEGOS were 2.4 ± 1.6. The rate of home discharge and rehabilitation was similar between elderly and younger patients. Patients who required MV had higher mEGOS (p-value=0.061). Regarding the electrophysiological subtypes, we did not observe a significant difference between AIDP and AMAN/AMSAN concerning the need for MV, the type of discharge, values of mEGOS and Charlson Comorbidity Index. Discussion A significant correlation was found between mEGOS and the need for MV. Age did not influence the short-term prognosis of GBS patients. mEGOS may be a useful tool for predicting outcomes in patients with GBS and higher mEGOS scores on admission significantly correlated with poor outcomes.

Published
2022

17. Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy

Author

Luigetti, Marco, primary, Antonini, Giovanni, additional, Di Paolantonio, Andrea, additional, Gentile, Luca, additional, Grandis, Marina, additional, Leonardi, Luca, additional, Lozza, Alessandro, additional, Manganelli, Fiore, additional, Mazzeo, Anna, additional, Mussinelli, Roberta, additional, My, Filomena, additional, Obici, Laura, additional, Maria Pennisi, Elena, additional, Romozzi, Marina, additional, Russo, Massimo, additional, Sabatelli, Mario, additional, Salvalaggio, Alessandro, additional, Tagliapietra, Matteo, additional, and Tozza, Stefano, additional

Published
2022
Full Text
View/download PDF

20. Thr124Met myelin protein zero mutation mimicking motor neuron disease

Author

Bisogni, Giulia, primary, Romano, Angela, additional, Conte, Amelia, additional, Tasca, Giorgio, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Fabrizi, Gian Maria, additional, Patanella, Agata Katia, additional, Meleo, Emiliana, additional, and Sabatelli, Mario, additional

Published
2021
Full Text
View/download PDF

21. Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care

Author

Luigetti,Marco, Romano,Angela, Di Paolantonio,Andrea, Bisogni,Giulia, and Sabatelli,Mario

Subjects
Therapeutics and Clinical Risk Management
Abstract

Marco Luigetti,1,2 Angela Romano,2 Andrea Di Paolantonio,2 Giulia Bisogni,3 Mario Sabatelli2,3 1Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; 2Università Cattolica del Sacro Cuore, Rome, Italy; 3Centro Clinico NEMO Adulti, Rome, ItalyCorrespondence: Marco LuigettiNeurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A Gemelli 8, Rome 00168, ItalyTel +39-06-3015 4435Fax +39-06-3550 1909Email mluigetti@gmail.comAbstract: Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. hATTR amyloidosis represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should consider the frequent cardiac, ocular and renal impairment. Especially a hypertrophic cardiomyopathy, even if usually latent, is identifiable in at least 50% of the patients. Therapeutically, current available options act at different stages of TTR production, including synthesis inhibition (liver transplantation and/or gene-silencing drugs) or tetramer TTR stabilization (TTR stabilizers), increasing survival at different disease stages.Keywords: amyloid, polyneuropathy, clinical care, therapy, transthyretin

Published
2020

22. Thr124Met myelin protein zero mutation mimicking motor neuron disease

Author

Bisogni, G., Romano, A., Conte, A., Tasca, Giorgio, Bernardo, D., Luigetti, Marco, Di Paolantonio, Andrea, Fabrizi, G. M., Patanella, A. K., Meleo, Emiliana, Sabatelli, Mario, Tasca G., Luigetti M. (ORCID:0000-0001-7539-505X), Di Paolantonio A., Meleo E., Sabatelli M. (ORCID:0000-0001-6635-4985), Bisogni, G., Romano, A., Conte, A., Tasca, Giorgio, Bernardo, D., Luigetti, Marco, Di Paolantonio, Andrea, Fabrizi, G. M., Patanella, A. K., Meleo, Emiliana, Sabatelli, Mario, Tasca G., Luigetti M. (ORCID:0000-0001-7539-505X), Di Paolantonio A., Meleo E., and Sabatelli M. (ORCID:0000-0001-6635-4985)

Abstract

Mutations in myelin protein zero (MPZ) are associated with heterogeneous manifestations. In this study, we report clinical, electrophysiological, pathological, and muscle MRI findings from two relatives with MPZ Thr124Met variants, disclosing different phenotypes. The proband was a 73-year-old female with a 12-year-story of atrophy, weakness, and fasciculations in her proximal and distal lower limbs. EMG examination showed neurogenic signs with active denervation together with reduced sensory action potentials, without sensory symptoms. The initial diagnosis was of a slowly progressive lower motor neuron disease (MND) with subclinical sensory axonal neuropathy. Two years later, the observation of her 60-year-old nephew, who had a distal sensory-motor neuropathy, prompted the analysis of inherited neuropathies-related genes and revealed a MPZ Thr124Met mutation in both cases. Our findings expand the clinical spectrum of MPZ-related neuropathy and highlight that Thr124Met mutation may cause a syndrome mimicking MND. The challenging issue to detect sensory features in the diagnostic MND work up is discussed.

Published
2021

24. Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy

Author

Gentile, Luca, primary, Russo, Massimo, additional, Luigetti, Marco, additional, Bisogni, Giulia, additional, Di Paolantonio, Andrea, additional, Romano, Angela, additional, Guglielmino, Valeria, additional, Arimatea, Ilenia, additional, Sabatelli, Mario, additional, Toscano, Antonio, additional, Vita, Giuseppe, additional, and Mazzeo, Anna, additional

Published
2021
Full Text
View/download PDF

25. Thr124Met myelin protein zero mutation mimicking motor neuron disease.

Author

Bisogni, Giulia, Romano, Angela, Conte, Amelia, Tasca, Giorgio, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Fabrizi, Gian Maria, Patanella, Agata Katia, Meleo, Emiliana, and Sabatelli, Mario

Subjects
MOTOR neuron diseases, MYELIN proteins, ACTION potentials, GENETIC mutation, POLYNEUROPATHIES
Abstract

Mutations in myelin protein zero (MPZ) are associated with heterogeneous manifestations. In this study, we report clinical, electrophysiological, pathological, and muscle MRI findings from two relatives with MPZ Thr124Met variants, disclosing different phenotypes. The proband was a 73-year-old female with a 12-year-story of atrophy, weakness, and fasciculations in her proximal and distal lower limbs. EMG examination showed neurogenic signs with active denervation together with reduced sensory action potentials, without sensory symptoms. The initial diagnosis was of a slowly progressive lower motor neuron disease (MND) with subclinical sensory axonal neuropathy. Two years later, the observation of her 60-year-old nephew, who had a distal sensory-motor neuropathy, prompted the analysis of inherited neuropathies-related genes and revealed a MPZ Thr124Met mutation in both cases. Our findings expand the clinical spectrum of MPZ-related neuropathy and highlight that Thr124Met mutation may cause a syndrome mimicking MND. The challenging issue to detect sensory features in the diagnostic MND work up is discussed. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

26. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Adams, David, primary, Polydefkis, Michael, additional, González-Duarte, Alejandra, additional, Wixner, Jonas, additional, Kristen, Arnt V, additional, Schmidt, Hartmut H, additional, Berk, John L, additional, Losada López, Inés Asunción, additional, Dispenzieri, Angela, additional, Quan, Dianna, additional, Conceição, Isabel M, additional, Slama, Michel S, additional, Gillmore, Julian D, additional, Kyriakides, Theodoros, additional, Ajroud-Driss, Senda, additional, Waddington-Cruz, Márcia, additional, Mezei, Michelle M, additional, Planté-Bordeneuve, Violaine, additional, Attarian, Shahram, additional, Mauricio, Elizabeth, additional, Brannagan, Thomas H, additional, Ueda, Mitsuharu, additional, Aldinc, Emre, additional, Wang, Jing Jing, additional, White, Matthew T, additional, Vest, John, additional, Berber, Erhan, additional, Sweetser, Marianne T, additional, Coelho, Teresa, additional, Vita, Giuseppe, additional, Rizzo, Vincenzo, additional, Russo, Massimo, additional, Mazzeo, Anna, additional, Gentile, Luca, additional, Brueckner, Caitlin, additional, Lazzari, Victoria, additional, Wiesman, Janice, additional, DeLong, Douglas, additional, Victory, Jennifer, additional, Dalton, James, additional, May, John, additional, Gilmore, Catherine, additional, Diallo, Saran, additional, Delmont, Emilien, additional, Pouget, Jean, additional, Verschueren, Annie, additional, Grapperon, Aude-Marie, additional, Campana-Salort, Emmanuelle, additional, Lopes, Ana, additional, Lamas, Filipa, additional, Neves, Carlos, additional, Castro, Jose, additional, Pereira, Pedro, additional, Castro, Isabel, additional, Franco, Ana, additional, Santos, Miguel Oliveira, additional, de Azevedo Coutinho, Conceição, additional, Falcao de Campos, Catarina, additional, Hipólito Reis, Antonio, additional, Correia, Nuno, additional, Perez, Javier M, additional, Martins da Silva, Ana, additional, Alves, Cristina, additional, Cardoso, Marcio, additional, Valdrez, Katia, additional, Monte, Julia R, additional, Pessoa, Bernardete, additional, Guimaraes, Nadia, additional, Freitas, Monica, additional, Ramalho, Joana, additional, Ferreira, Natalia, additional, Kuzume, Daisuke, additional, Tard, Celine, additional, Waucquier, Nawal, additional, Rougeaux, Isabelle, additional, Brice, Sylvie, additional, Kasprzyk, Emmanuelle, additional, Elrezzi, Elise, additional, Meguig, Sayah, additional, Hachulla, Eric, additional, Gauvain, Clement, additional, Migaud-Chervy, Maria-Claire, additional, Deplanque, Dominique, additional, Jozefowicz, Elsa, additional, Lebellec, Loic, additional, Adams, David, additional, Balaya-Gouraya, Line, additional, Jehan Lacour, Nathalie, additional, Bournane, Halima, additional, Martin, Nathalie, additional, Elabed, Mongia, additional, Sacko, Niamey, additional, Boubrit, Yasmine, additional, Gaouar, Amina, additional, Rakotondratafika, Fetra, additional, Théaudin-Saliou, Marie, additional, Cauquil-Michon, Cécile, additional, Labeyrie, Celine, additional, Not, Adeline, additional, Al-Salameh, Abdallah, additional, Lecoq, Anne-Lise, additional, Stephant, Maeva, additional, Echaniz-Laguna, Andoni, additional, Becquemont, Laurent, additional, Beaudonnet, Guillemette, additional, Algalarrondo, Vincent, additional, Eliahou, Ludivine, additional, Rousseau, Antoine, additional, Signate, Aissatou, additional, Berthelot, Emeline, additional, Inamo, Jocelyn, additional, Vervoitte, Laetitia, additional, Focseneanu, Cecile, additional, Gendre, Thierry, additional, Arrouasse, Raphaele, additional, Ayache, Samar S., additional, Ernande, Laura, additional, Le Corvoisier, Philippe, additional, Salhi, Hayet, additional, Choumert, Ariane, additional, Ehinger, Vincent, additional, Ruiz, Julie, additional, Charlin, Cyril, additional, Megelin, Thomas, additional, Brannagan III, Thomas H, additional, Fayerman, Raisy, additional, Kim, Arreum, additional, Paras, Allan, additional, Gonzalez, Leidy J, additional, Tsang, Steven, additional, Wajnsztajn, Fernanda, additional, Shije, Jeffrey, additional, Ulane, Christina, additional, Kleyman, Inna, additional, Weimer, Louis, additional, Cioroiu, Comana, additional, Lambrianides, Sakis, additional, Abu-Manneh, Rana, additional, Zamba-Papanicolaou, Eleni, additional, Agathangelou, Petros, additional, Leonidou, Eleni, additional, Tada, Satoshi, additional, Fujita, Akemi, additional, Nagai, Masahiro, additional, Ando, Rina, additional, Hosokawa, Yuko, additional, Yamanishi, Yuki, additional, Overcash, J. Scott, additional, Giardino, Elena, additional, Boyer, Leslie, additional, Dang, Lien, additional, Le, An, additional, Nguyen, Tyler, additional, Giang, Lien, additional, Sellers, Peter, additional, Tran, Leyla, additional, Truong, Nghi, additional, Vinas, Maita, additional, Hrkman, Nicole, additional, Miller, Sarah, additional, Nguyen, David, additional, Smith, Ashley, additional, Pu, Helen, additional, Li, Steve, additional, Vuong, Thao, additional, Dioso, Holly, additional, Green, Sinikka, additional, Lee, Kia, additional, Chu, Hanh, additional, Waters, Michael, additional, Coskun, Derya J, additional, Zepeda, Karla A, additional, O'Riordan, William, additional, Obici, Laura, additional, Cortese, Andrea, additional, Lozza, Alessandro, additional, Merlini, Giampaolo, additional, Rosti, Vittorio, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Guglielmino, Valeria, additional, Romano, Angela, additional, Nienhuis, Hans, additional, Bulthuis-Kuiper, Janita, additional, Gerk, Olga, additional, Ulbricht, Hannah, additional, Taylor, Lenka, additional, Meyle, Eva, additional, Kleinschmidt, Natalia, additional, Meyrath, David, additional, Noe-Schwenn, Simone, additional, Meng, Ulrike, additional, Bauer, Ralf, additional, aus dem Siepen, Fabian, additional, Hein, Selina, additional, Takahashi, Tetsuya, additional, Oshita, Tomohiko, additional, Koujin, Yoko, additional, Neshige, Shuichiro, additional, Nezu, Tomohisa, additional, Segawa, Akiko, additional, Ueno, Hiroki, additional, Morino, Hiroyuki, additional, Campistol, Josep M, additional, Rodas Marin, Lida Maria, additional, Blasco Pelicano, Josep Miquel, additional, Dávila, Lucía Galán, additional, Palacios, Marta, additional, Pytel Cordoba, Vanesa, additional, Guerrero Sola, Antonio, additional, Horga, Alejandro, additional, García Feijoo, Julián, additional, Perez de Isla, Leopoldo, additional, Marques Júnior, Wilson, additional, Moscardini, Mariana, additional, Litcanov, Debora Cristina, additional, Viera Lima, Ana Flavia, additional, Rodrigues, Leonardo, additional, Marques Coutinho, Barbara, additional, Moreira, Carolina Lavigne, additional, Daccach Marques, Vanessa, additional, Munoz Beamud, Francisco, additional, Gragera Martínez, Álvaro, additional, Borrachero, Cristina, additional, Cisneros Barroso, Eugenia, additional, Rodríguez Rodríguez, Adrián, additional, Sanz, Monica, additional, Rigo Oliver, Elena, additional, González Moreno, Juan, additional, Gamez Martinez, Jose M, additional, Descals, Cristina, additional, Uson, Mercedes, additional, Jose Vega, Francisco, additional, Figuerola, Antoni, additional, Montala, Carles, additional, Dias da Silva, Moises, additional, Gervais de Santa Rosa, Renata, additional, Pinto, Luiz Felipe, additional, Pinto, Marcus Vinicius, additional, Cardoso Berensztejn, Amanda, additional, Barroso, Fabio, additional, Lautre, Andrea, additional, Orellana, Lucas G, additional, González-Duarte Briseño, Maria Alejandra, additional, Cárdenas-Soto, Karla, additional, Jiménez López, Brenda Poled, additional, Pérez-Castañeda, Sandra Lorena, additional, Cantú Brito, Carlos Gerardo, additional, Rivera de la Parra, David, additional, Hernandez Reyes, Jose Pablo, additional, del Mar Saniger Alba, Maria, additional, Criollo Mora, Elia, additional, Parman, Yesim, additional, Rezzan, Kus Jülide, additional, Sahin, Erdi, additional, Serbest, Nail G, additional, Durmus, Hacer, additional, Cakar, Arman, additional, Tugal Tutkun, Nuriye Ilknur, additional, Karamursel, Sacit, additional, Elitok, Ali, additional, Sirin Inan, Nermin G, additional, Altinkurt, Emre, additional, Ye, Jing, additional, Allen, Adriane C, additional, Chaudhry, Vinay, additional, Jarrett, Raquel, additional, Bressler, Neil, additional, Burks, Kathleen L, additional, Liu, Qingfeng, additional, Khoshnoodi, Mohammad, additional, Judge, Daniel P, additional, Vista, Geno, additional, Shah, Syed Mahmood, additional, Hamaguchi, Hirotoshi, additional, Oda, Junko, additional, Fukase, Emi, additional, Taniguchi, Ikuko, additional, Oda, Tetsuya, additional, Endo, Hironobu, additional, Shimomura, Masahiro, additional, Katanazaka, Kimitaka, additional, Koto, Shusuke, additional, Nakano, Takahiro, additional, Scheid, Christof, additional, Zueiter, Andreas, additional, Pester, Lars, additional, Walter, Doreen, additional, Özdemir, Betül, additional, Frenzel, Lukas F, additional, Holtick, Udo, additional, Oh, Jeeyoung, additional, Kim, Hee Jin, additional, Shin, Hyun Jin, additional, Choi, Kyomin, additional, Yamashita, Taro, additional, Masuda, Teruaki, additional, Misumi, Yohei, additional, Ueda, Akihiko, additional, Nakahara, Keiichi, additional, Yorita, Akiko, additional, Tsuruhisa, Seiko, additional, Taniwaki, Takayuki, additional, Harada, Masaya, additional, Moritaka, Taiga, additional, Sakurada, Naonori, additional, Mauricio, Elizabeth A, additional, Baskin, Amber, additional, Dimberg, Elliot, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Russell, Stephen J, additional, Dyck, Peter, additional, Gonsalves, Wilson, additional, Leung, Nelson, additional, Witzig, Thomas E, additional, Zeldenrust, Steven R, additional, Hwa, Lisa, additional, Kapoor, Prashant, additional, Kumar, Shaji K, additional, Lin, Yi, additional, Lust, John A, additional, Rajkumar, Vincent S, additional, Dingli, David, additional, Gertz, Morie A, additional, Go, Ronald, additional, Hayman, Suzanne R, additional, Dalia, Samir, additional, Carrillo, Esmeralda, additional, Gorevic, Peter, additional, Mason, Garnette, additional, Chao, Chi-Chao, additional, Lee, Ming-Jen, additional, Su, Jen-Jen, additional, Hsieh, Sung-Tsang, additional, Tsai, Li-Kai, additional, Yeh, Shin-Joe, additional, Yang, Chih-Chao, additional, Ajroud-Driss, Senda Ajroud-Driss, additional, Casey, Patricia, additional, Joslin, Benjamin C, additional, Freimer, Miriam, additional, Sankey, Alison, additional, Kenepp, Amanda, additional, Heintzman, Sarah, additional, LoRusso, Samantha, additional, Hokezu, Youichi, additional, Kim, Byoung-Joon, additional, Kim, JuHyeon, additional, Lee, Ga Yeon, additional, Cho, Eun Bin, additional, Jeon, Eun-Seok, additional, Min, Ju-Hong, additional, Seok, Jin Myoung, additional, Lee, Hye Lim, additional, Park, Jae Hong, additional, Sekijima, Yoshiki, additional, Miyazawa, Chinatsu, additional, Kato, Nagaaki, additional, Kishida, Dai, additional, Hineno, Akiyo, additional, Kodaira, Minori, additional, Yoshinaga, Tsuneaki, additional, Miyahara, Teruyoshi, additional, Imai, Akira, additional, Matsumoto, Kazuhiko, additional, Lin, Kon-Ping, additional, Lee, Yi-Chung, additional, Falk, Malin, additional, Pilebro, Bjorn, additional, Suhr, Ole, additional, Lindqvist, Per, additional, Soderberg, Karin, additional, Pedrosa-Domellöf, Fatima, additional, Anan, Intissar, additional, Nordh, Erik, additional, Tournev, Ivaylo, additional, Zhelyazkova-Glaveeva, Sashka, additional, Cherneva, Zheyna, additional, Sarafov, Staiko, additional, Chamova, Teodora, additional, Cherninkova-Gopina, Sylvia, additional, Friebel, Frauke, additional, Zibert, Andree, additional, Mihailovic, Natasa, additional, Schubert, Friederike, additional, Vorona, Elena, additional, Lahme, Larissa, additional, Huesing-Kabar, Anna, additional, Schilling, Matthias, additional, Kabar, Iyad, additional, Martinez-Naharro, Ana, additional, Chacko, Liza, additional, Cohen, Oliver, additional, Law, Steven, additional, Rezk, Tamer, additional, Lachmann, Helen J, additional, Blume, Brianna, additional, Dixon, Stacy, additional, Low, Soon Chai, additional, Chan, Soo Looi, additional, Lim, He Eng Li, additional, Goh, Khean Jin, additional, Kraus, Deborah, additional, Jack, Kristin, additional, Wade, N. Kevin, additional, Lopate, Glenn, additional, Zwijack, Brittany, additional, Florence, Julaine, additional, Sommerville, R. Brian, additional, Stewart, Graeme, additional, Ryder, Julie, additional, Mekhael, Linda, additional, Taylor, Mark, additional, Suan, Daniel, additional, Wells, Karen, additional, Stone, Paula, additional, Itoya, Amenze, additional, Owusu-Sekyere, Mercy, additional, Thai, Desmond, additional, Chahine, Ilonah, additional, Pedrosa, Salve, additional, and Do, Thi Hoa (Therese), additional

Published
2021
Full Text
View/download PDF

27. hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Author

Luigetti, Marco, primary, Romozzi, Marina, additional, Bisogni, Giulia, additional, Cardellini, Davide, additional, Cavallaro, Tiziana, additional, Di Paolantonio, Andrea, additional, Fabrizi, Gian Maria, additional, Fenu, Silvia, additional, Gentile, Luca, additional, Grandis, Marina, additional, Marucci, Gianluca, additional, Massucco, Sara, additional, Mazzeo, Anna, additional, Pareyson, Davide, additional, Romano, Angela, additional, Russo, Massimo, additional, Schenone, Angelo, additional, Tagliapietra, Matteo, additional, Tozza, Stefano, additional, Vita, Giuseppe, additional, and Sabatelli, Mario, additional

Published
2020
Full Text
View/download PDF

31. An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

Author

Piano, Carla, primary, Di Stasio, Enrico, additional, Primiano, Guido, additional, Janiri, Delfina, additional, Luigetti, Marco, additional, Frisullo, Giovanni, additional, Vollono, Catello, additional, Lucchini, Matteo, additional, Brunetti, Valerio, additional, Monforte, Mauro, additional, Guglielmi, Valeria, additional, Della Marca, Giacomo, additional, Evoli, Amelia, additional, Marra, Camillo, additional, Mirabella, Massimiliano, additional, Quaranta, Davide, additional, Ricci, Enzo, additional, Servidei, Serenella, additional, Silvestri, Gabriella, additional, Bellavia, Simone, additional, Bortolani, Sara, additional, Bove, Francesco, additional, Di Iorio, Riccardo, additional, Di Paolantonio, Andrea, additional, Genovese, Danilo, additional, Ialongo, Tamara, additional, Lo Monaco, Maria Rita, additional, Marotta, Jessica, additional, Patanella, Agata Katia, additional, Perna, Alessia, additional, Petracca, Martina, additional, Presicce, Giorgia, additional, Riso, Vittorio, additional, Rollo, Eleonora, additional, Romano, Angela, additional, Romozzi, Marina, additional, Sancricca, Cristina, additional, Scala, Irene, additional, Spagni, Gregorio, additional, Solito, Marcella, additional, Tricoli, Luca, additional, Zinzi, Paola, additional, Calabresi, Paolo, additional, and Bentivoglio, Anna Rita, additional

Published
2020
Full Text
View/download PDF

32. An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

Author

Piano, Carla, Di Stasio, Enrico, Primiano, Guido Alessandro, Janiri, Delfina, Luigetti, Marco, Frisullo, Giovanni, Vollono, Catello, Lucchini, Matteo, Brunetti, Valerio, Monforte, Mauro, Guglielmi, Valeria, Della Marca, Giacomo, Evoli Stampanoni-B, Amelia, Marra, Camillo, Mirabella, Massimiliano, Quaranta, Davide, Ricci, Enzo, Servidei, Serenella, Silvestri, Gabriella, Bellavia, Simone, Bortolani, Sara, Bove, Francesco, Di Iorio, Riccardo, Di Paolantonio, Andrea, Genovese, Danilo, Ialongo, Tamara, Lo Monaco, Maria Rita, Marotta, Jessica, Patanella, Agata Katia, Perna, Alessia, Petracca, Martina, Presicce, Giorgia, Riso, Vittorio, Rollo, Eleonora, Romano, Angela, Romozzi, Marina, Sancricca, Cristina, Scala, Irene, Spagni, Gregorio, Solito, Marcella, Tricoli, Luca, Zinzi, Paola, Calabresi, Paolo, Bentivoglio, Anna Rita, Di Stasio, Enrico (ORCID:0000-0003-1047-4261), Primiano, Guido, Luigetti, Marco (ORCID:0000-0001-7539-505X), Lucchini, Matteo (ORCID:0000-0002-0447-2297), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marra, Camillo (ORCID:0000-0003-3994-4044), Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Ricci, Enzo (ORCID:0000-0003-3092-3597), Servidei, Serenella (ORCID:0000-0001-8478-2799), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Lo Monaco, Maria Rita (ORCID:0000-0002-1457-7981), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Piano, Carla, Di Stasio, Enrico, Primiano, Guido Alessandro, Janiri, Delfina, Luigetti, Marco, Frisullo, Giovanni, Vollono, Catello, Lucchini, Matteo, Brunetti, Valerio, Monforte, Mauro, Guglielmi, Valeria, Della Marca, Giacomo, Evoli Stampanoni-B, Amelia, Marra, Camillo, Mirabella, Massimiliano, Quaranta, Davide, Ricci, Enzo, Servidei, Serenella, Silvestri, Gabriella, Bellavia, Simone, Bortolani, Sara, Bove, Francesco, Di Iorio, Riccardo, Di Paolantonio, Andrea, Genovese, Danilo, Ialongo, Tamara, Lo Monaco, Maria Rita, Marotta, Jessica, Patanella, Agata Katia, Perna, Alessia, Petracca, Martina, Presicce, Giorgia, Riso, Vittorio, Rollo, Eleonora, Romano, Angela, Romozzi, Marina, Sancricca, Cristina, Scala, Irene, Spagni, Gregorio, Solito, Marcella, Tricoli, Luca, Zinzi, Paola, Calabresi, Paolo, Bentivoglio, Anna Rita, Di Stasio, Enrico (ORCID:0000-0003-1047-4261), Primiano, Guido, Luigetti, Marco (ORCID:0000-0001-7539-505X), Lucchini, Matteo (ORCID:0000-0002-0447-2297), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marra, Camillo (ORCID:0000-0003-3994-4044), Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Ricci, Enzo (ORCID:0000-0003-3092-3597), Servidei, Serenella (ORCID:0000-0001-8478-2799), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Lo Monaco, Maria Rita (ORCID:0000-0002-1457-7981), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

Objective:Neurological sequelae of SARS-CoV-2 infection have already been reported, but there is insufficient data about the impact of the pandemic on the management of the patients with chronic neurological diseases. We aim to analyze the effect of COVID-19 pandemic and social restriction rules on these fragile patients. Methods:Patients with chronic neurologic diseases routinely followed at the outpatient clinic of Gemelli University Hospital, Rome, were assessed for symptoms suggestive of SARS-CoV-2 infection in the pandemic period, consequences of social restrictions, and neurological disease features, concomitant medical conditions, current medical and disease-specific treatments. Data source: a dedicated telephone survey designed to encompass questions on COVID-19 symptoms and on pandemic effects in chronic neurologic conditions. Results:Overall, 2,167 individuals were analyzed: 63 patients reported contact with COVID-19 positive cases, 41 performed the swab, and 2 symptomatic patients tested positive for COVID-19 (0.09%). One hundred fifty-eight individuals (7%) needed urgent neurological care, deferred due to the pandemic; 641 patients (30%) suspended hospital treatments, physiotherapy or other support interventions; 405 individuals (19%) reported a subjective worsening of neurological symptoms. Conclusions:In our population, the presence of neurological chronic diseases did not increase the prevalence of COVID-19 infection. Nevertheless, the burden of neurological disorders has been worsened by the lockdown.

Published
2020

33. hATTR pathology: Nerve biopsy results from Italian referral centers

Author

Luigetti, Marco, Romozzi, Marina, Bisogni, G., Cardellini, D., Cavallaro, T., Di Paolantonio, Andrea, Fabrizi, G. M., Fenu, S., Gentile, L., Grandis, M., Marucci, G., Massucco, S., Mazzeo, A., Pareyson, D., Romano, Angela, Russo, M., Schenone, A., Tagliapietra, M., Tozza, S., Vita, G., Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romozzi M., Di Paolantonio A., Romano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti, Marco, Romozzi, Marina, Bisogni, G., Cardellini, D., Cavallaro, T., Di Paolantonio, Andrea, Fabrizi, G. M., Fenu, S., Gentile, L., Grandis, M., Marucci, G., Massucco, S., Mazzeo, A., Pareyson, D., Romano, Angela, Russo, M., Schenone, A., Tagliapietra, M., Tozza, S., Vita, G., Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romozzi M., Di Paolantonio A., Romano A., and Sabatelli M. (ORCID:0000-0001-6635-4985)

Abstract

ObjectivePathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin (TTR) mutations. Sural nerve biopsy was performed according to standard protocols. Results: Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Conclusions: Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.

Published
2020

34. Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience

Author

Luigetti, Marco, Tortora, Annalisa, Romano, Angela, Di Paolantonio, Andrea, Guglielmino, Valeria, Bisogni, Giulia, Gasbarrini, Antonio, Calabresi, Paolo, Sabatelli, Mario, Luigetti, Marco (ORCID:0000-0001-7539-505X), Gasbarrini, Antonio (ORCID:0000-0002-7278-4823), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco, Tortora, Annalisa, Romano, Angela, Di Paolantonio, Andrea, Guglielmino, Valeria, Bisogni, Giulia, Gasbarrini, Antonio, Calabresi, Paolo, Sabatelli, Mario, Luigetti, Marco (ORCID:0000-0001-7539-505X), Gasbarrini, Antonio (ORCID:0000-0002-7278-4823), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Background and Aims: Hereditary transthyretin (ATTRv) amyloidosis represents a diagnostic challenge considering the great variability in clinical presentation and multiorgan involvement. In this study we report the prevalence of gastrointestinal (GI) involvement of patients with hereditary ATTRv amyloidosis from one single center of Italy, a non-endemic area. Methods: We retrospectively analyzed a cohort of 39 patients with hereditary ATTRv amyloidosis followed at the Neurology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. All patients had a documented mutation in the gene encoding the thansthyretin. Neurological, cardiological and gastrointestinal manifestations were systematically collected at every monitoring visit. Results: 82% reported at least one GI symptom. Unintentional weight loss was the most frequently reported. Lower GI symptoms were more frequent than upper GI symptoms (66.7% vs. 35.9%, p=0.0122). The first GI symptom was always reported within 5 years since disease onset. Gastrointestinal symptoms were almost always present in patients with Val30Met mutation (93.8%, 15/16), and in more than half of the cases with Phe64Leu mutation (66.7%, 8/12). All cases with a non-Val30Met mutation disclosed almost all GI symptoms within 5 years since disease onset; conversely, patients with Val30Met mutation continued to develop further GI manifestations during the disease course. Conclusions: Prevalence of GI symptoms in our cohort was 82%, resulting in a higher prevalence than reported in the THAOS registry. Gastroenterologists, therefore, play an important role for the management of the disease, and their expertise should be valued for an effective multidisciplinary approach to this condition.

Published
2020

35. Pathological findings in chronic inflammatory demyelinating polyradiculoneuropathy: A single-center experience

Author

Luigetti, Marco, Romano, Angela, Di Paolantonio, Andrea, Bisogni, G., Rossi, Salvatore, Conte, A., Madia, Francesca, Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romano A., Di Paolantonio A., Rossi S., Madia F., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti, Marco, Romano, Angela, Di Paolantonio, Andrea, Bisogni, G., Rossi, Salvatore, Conte, A., Madia, Francesca, Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romano A., Di Paolantonio A., Rossi S., Madia F., and Sabatelli M. (ORCID:0000-0001-6635-4985)

Abstract

Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary lesions are frequently observed, configuring a series of different pathological pictures. In this article, we review the pathological findings of a large series of sural nerve biopsies from our cohort of CIDP patients. Patients and Methods: Patients with CIDP who underwent nerve biopsy were retrospectively selected from those referred to the Institute of Neurology of the “Università Cattolica del Sacro Cuore” in Rome, Italy, from 1982 to February 2020. Sural nerve biopsy was performed according to standard protocols. Results: Sural nerve biopsy was performed in 43/130 CIDP patients. Demyelinating abnormalities and axonal loss were found in 67.4% and 83.7% of biopsies, respectively. Conversely, onion bulbs and inflammatory infiltrates were rare (18.6% and 4.7%, respectively). In three cases, we observed normal pathological findings. Conclusions: A pathognomonic pathological finding of CIDP cannot be established, but we confirm the utility of nerve biopsy in this setting to confirm the diagnosis (also in atypical phenotypes) and to elucidate pathogenic mechanisms.

Published
2020

36. Isolated light chain deposition disease neuropathy in a patient with multiple myeloma

Author

Romano, Angela, Riso, Vittorio, Bisogni, Giulia, Di Paolantonio, Andrea, Rossi, Elena, Sabatelli, Mario, Servidei, Serenella, Luigetti, Marco, Rossi, Elena (ORCID:0000-0002-7572-9379), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Servidei, Serenella (ORCID:0000-0001-8478-2799), Luigetti, Marco (ORCID:0000-0001-7539-505X), Romano, Angela, Riso, Vittorio, Bisogni, Giulia, Di Paolantonio, Andrea, Rossi, Elena, Sabatelli, Mario, Servidei, Serenella, Luigetti, Marco, Rossi, Elena (ORCID:0000-0002-7572-9379), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Luigetti, Marco (ORCID:0000-0001-7539-505X)

Abstract

In our patient, clinical history, neurological examination and NCS revealed a progressive axonal sensory-motor polyneuropathy. Although the presence of a polyneuropathy in patients with MM is quite common, the rapid progression of her clinical condition suggested a direct association with the underlying hematologic disease [3]. Ruled out other possible causes of neuropathy, we performed nerve biopsy, detecting abundant light chain deposition and thus confirming an aggressive hematologic disease, although other organs (including kidney and heart) were not involved. Based on these considerations, our patient was treated with chemotherapy, resulting in clinical stabilization. This report confirms that LCDD, although rare, could be one of the several mechanisms of nerve damage in hematologic diseases and could occur even without signs of other organ involvement. Since its recognition has important therapeutic implications, nerve biopsy is an irreplaceable diagnostic tool in patients with progressive neuropathy during hematologic disease.

Published
2020

40. Recurrent miller fisher: a new case report and a literature review

Author

Barbato, Francesco, Di Paolantonio, Andrea, Distefano, M, Mastrorosa, Alessia, Sabatelli, Mario, Servidei, Serenella, and Luigetti, Marco

Subjects
Male, Settore MED/26 - NEUROLOGIA, Miller Fisher Syndrome, Anti-GQ1b antibodies, Autoimmune disease, Miller-Fisher, Recurrent, Female, Humans, Recurrence, Steroids
Abstract

Miller Fisher syndrome (MFS) is considered to be an uncommon variant of Guillain-Barré Syndrome. The disease is clinically characterized by acute ataxia of limbs, areflexia and ophthalmoplegia, although the set of symptoms and signs can be quite heterogeneous, with a benign and monophasic course. We describe a case of recurrent MFS where there have been four clinical episodes occurred with complete remission after each relapse. Last recurrence was treated with oral steroids. The reported frequency of recurrent MFS in literature is variable as well as the best treatment in these cases. We add a new case treated with steroid and we perform a review of the literature.

Published
2017

42. Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre

Author

Luigetti, Marco, Bisogni, Giulia, Romano, Angela, Di Paolantonio, Andrea, Barbato, Francesco, Primicerio, Giulia, Rossini, Paolo Maria, Servidei, Serenella, Sabatelli, Mario, Luigetti, Marco (ORCID:0000-0001-7539-505X), Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Servidei, Serenella (ORCID:0000-0001-8478-2799), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco, Bisogni, Giulia, Romano, Angela, Di Paolantonio, Andrea, Barbato, Francesco, Primicerio, Giulia, Rossini, Paolo Maria, Servidei, Serenella, Sabatelli, Mario, Luigetti, Marco (ORCID:0000-0001-7539-505X), Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Objective: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers. Patients and methods: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years. Results: About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled. All patients had a neuropathy affecting large fibres, small fibres or both. Two subjects developed symptoms and neurophysiological alterations during follow-up. Sudoscan data from hand and feet inversely correlated with neuropathy severity and with disease duration. Moreover, global disease status, expressed by Kumamoto scale also inversely correlated with Sudoscan values. Conclusions: We confirmed that Sudoscan is a reliable marker of disease progression in late-onset hATTR amyloidosis patients and we suggest its possible utility in early detection of disease in this population.

Published
2018

43. Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy

Author

Marco Luigetti, Giovanni Antonini, Andrea Di Paolantonio, Luca Gentile, Marina Grandis, Luca Leonardi, Alessandro Lozza, Fiore Manganelli, Anna Mazzeo, Roberta Mussinelli, Filomena My, Laura Obici, Elena Maria Pennisi, Marina Romozzi, Massimo Russo, Mario Sabatelli, Alessandro Salvalaggio, Matteo Tagliapietra, Stefano Tozza, Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, and Tozza, Stefano

Subjects
amyloidosis, amyloidosi, Amyloid Neuropathies, Familial, Oligonucleotides, inotersen, Thrombocytopenia, Settore MED/26 - NEUROLOGIA, Phenotype, Neurology, Italy, Retrospective Studie, real life, Oligonucleotide, ATTRv, Quality of Life, Humans, Prealbumin, Neurology (clinical), real-life, Human, Retrospective Studies
Abstract

Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the transthyretin gene. Therapeutic agents approved for this disease include the TTR stabilizer tafamidis and the gene-silencing drugs patisiran and inotersen. Inotersen is an antisense oligonucleotide that suppresses the hepatic production of transthyretin. After European Medical Agency approval in 2018, an early-access program was opened in Italy, and in this article, we present the long-term outcome of a cohort of Italian ATTRv patients who received inotersen within this program.This is a multicenter, observational, retrospective study of patients affected by ATTRv that started inotersen during the early-access program. The primary end point was safety. Secondary end points included change from baseline in familial amyloid polyneuropathy (FAP) stage, Polyneuropathy Disability, Neuropathy Impairment Scale, Compound Autonomic Dysfunction Test, Norfolk Quality of Life-Diabetic Neuropathy, troponin, N-terminal pro-brain natriuretic peptide, interventricular septum thickness, and body mass index.In total, 23 patients were enrolled. No patient permanently discontinued the treatment because of thrombocytopenia, and no cases of severe thrombocytopenia were observed. Five patients discontinued the treatment permanently because of voluntary withdrawal (two patients), renal failure after infective pyelonephritis, not related to inotersen, drug-related hypotension, and amyloid-negative crescentic glomerulonephritis. In seven patients, dosing frequency was reduced to every 2 weeks due to recurrent thrombocytopenia. Considering the FAP stage, only two patients worsened, whereas the other 21 patients remained stable until the last follow-up available.The long-term safety profile of inotersen is favorable. Neurologic disease severity at baseline is the main factor associated with progression.

Published
2022

44. Isolated light chain deposition disease neuropathy in a patient with multiple myeloma.

Author

Romano A, Riso V, Bisogni G, Di Paolantonio A, Rossi E, Sabatelli M, Servidei S, and Luigetti M

Subjects
Aged, Female, Humans, Amyloid Neuropathies metabolism, Amyloid Neuropathies pathology, Immunoglobulin Light Chains metabolism, Multiple Myeloma metabolism, Multiple Myeloma pathology, Neoplasm Proteins metabolism, Sural Nerve metabolism, Sural Nerve pathology
Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results