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1. Do patients’ and referral centers’ characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related disorders register

Author

Bergamaschi, Roberto, Beghi, Ettore, Bosetti, Cristina, Ponzio, Michela, Santucci, Claudia, Lepore, Vito, Mosconi, Paola, Aguglia, U., Amato, M. P., Ancona, A. L., Ardito, B., Avolio, C., Balgera, R., Banfi, P., Barcella, V., Barone, P., Bellantonio, P., Berardinelli, A., Bergamaschi, R., Bertora, P., Bianchi, M., Bramanti, P., Morra, V. Brescia, Brichetto, G., Brioschi, A. M., Buccafusca, M., Bucello, S., Busillo, V., Calchetti, B., Cantello, R., Capobianco, M., Capone, F., Capone, L., Cargnelutti, D., Carrozzi, M., Cartechini, E., Cavaletti, G., Cavalla, P., Celani, M. G., Clerici, R., Clerico, M., Cocco, E., Confalonieri, P., Coniglio, M. G., Conte, A., Corea, F., Cottone, S., Crociani, P., D’Andrea, F., Danni, M. C., De Luca, G., de Pascalis, D., De Riz, M., De Robertis, F., De Rosa, G., De Stefano, N., Corte, M. Della, Di Sapio, A., Docimo, R., Falcini, M., Falcone, N., Fermi, S., Ferraro, E., Ferrò, M. T., Fortunato, M., Foschi, M., Gajofatto, A., Gallo, A., Gallo, P., Gatto, M., Gazzola, P., Giordano, A., Granella, F., Grasso, M. F., Grasso, M. G., Grimaldi, L. M. E., Iaffaldano, P., Imperiale, D., Inglese, M., Iodice, R., Leva, S., Luezzi, V., Lugaresi, A., Lus, G., Maimone, D., Mancinelli, L., Maniscalco, G. T., Marfia, G. A., Marini, B., Marson, A., Mascoli, N., Massacesi, L., Melani, F., Merello, M., Meucci, G., Mirabella, M., Montepietra, S., Nasuelli, D., Nicolao, P., Passantino, F., Patti, F., Peresson, M., Pesci, I., Piantadosi, C., Piras, M. L., Pizzorno, M., Plewnia, K., Pozzilli, C., Protti, A., Quatrale, R., Realmuto, S., Ribizzi, G., Rinalduzzi, S., Rini, A., Romano, S., Romeo, M., Ronzoni, M., Rossi, P., Rovaris, M., Salemi, G., Santangelo, G., Santangelo, M., Santuccio, G., Sarchielli, P., Sinisi, L., Sola, P., Solaro, C., Spitaleri, D., Strumia, S., Tassinari, T., Tonietti, S., Tortorella, C., Totaro, R., Tozzo, A., Trivelli, G., Ulivelli, M., Valentino, P., Venturi, S., Vianello, M., Zaffaroni, M., Zarbo, R., Trojano, Maria, Battaglia, Mario Alberto, Capobianco, Marco, Pugliatti, Maura, Ulivelli, Monica, Mosconi, Paola, Gasperini, Claudio, Patti, Francesco, Amato, Maria Pia, Bergamaschi, Roberto, and Comi, Giancarlo

Published
2022
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2. Safety and efficacy of vaccinations in patients with multiple sclerosis: a systematic review.

Author

SANTANGELO, O. E., PROVENZANO, S., VELLA, C., FERMI, S., FACCHINI, L., RIZZO, M., BRIGHINA, F., CEDRONE, F., and FIRENZE, A.

Abstract

OBJECTIVE: The study aims to show the efficacy/effectiveness and safety of vaccinations in patients with multiple sclerosis. MATERIALS AND METHODS: This systematic review was conducted following the guidelines of the Cochrane Collaboration and the meta-analysis of observational studies in epidemiology (MOOSE). RESULTS: At the end of the review process, 133 studies were included; the bibliographic search was conducted on PubMed/Medline and Scopus, combining free text and words. CONCLUSIONS: In general, vaccinations do not seem to aggravate multiple sclerosis (MS) or increase the probability of relapse, particularly for inactivated vaccines and, in general, for the rest of the vaccines. However, it is advisable, especially for vaccines with a live attenuated virus, to carefully evaluate the risks and benefits of these vaccinations; as regards the effectiveness in relation to the drug taken, there is great variability in response. In particular, vaccinations are less effective in patients undergoing therapy with anti-CD20 and S1P modulators. At the same time, a small response is likely to be better than none. Whenever possible, vaccinations should be offered and recommended to patients with multiple sclerosis. [ABSTRACT FROM AUTHOR]

Published
2024

3. Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

Author

Mosconi, P, Guerra, T, Paletta, P, D'Ettorre, A, Ponzio, M, Battaglia, M, Amato, M, Bergamaschi, R, Capobianco, M, Comi, G, Gasperini, C, Patti, F, Pugliatti, M, Ulivelli, M, Trojano, M, Lepore, V, Aguglia, U, Ancona, A, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bertora, P, Bianchi, M, Bramanti, P, Brescia Morra, V, Brichetto, G, Brioschi, A, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capone, F, Capone, L, Cargnelutti, D, Carozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M, Clerici, R, Clerico, M, Cocco, E, Torri Clerici, V, Coniglio, M, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Della Corte, M, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferro, M, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Iaffaldano, P, Immovilli, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Leuzzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G, Marfia, G, Margari, L, Marinelli, F, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Fioretti, C, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Pasquali, L, Passantino, F, Pecori, C, Peresson, M, Pesci, I, Piantadosi, C, Piras, M, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Filippi, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Leone, A, Sarchielli, P, Sinisi, L, Ferraro, D, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Santuccio, G, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Turano, G, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Mosconi P., Guerra T., Paletta P., D'Ettorre A., Ponzio M., Battaglia M. A., Amato M. P., Bergamaschi R., Capobianco M., Comi G., Gasperini C., Patti F., Pugliatti M., Ulivelli M., Trojano M., Lepore V., Aguglia U., Amato M., Ancona A., Ardito B., Avolio C., Balgera R., Banfi P., Barcella V., Barone P., Bellantonio P., Berardinelli A., Bertora P., Bianchi M., Bramanti P., Brescia Morra V., Brichetto G., Brioschi A., Buccafusca M., Bucello S., Busillo V., Calchetti B., Cantello R., Capone F., Capone L., Cargnelutti D., Carozzi M., Cartechini E., Cavaletti G., Cavalla P., Celani M., Clerici R., Clerico M., Cocco E., Torri Clerici V., Coniglio M., Conte A., Corea F., Cottone S., Crociani P., D'Andrea F., Danni M., De Luca G., de Pascalis D., De Riz M., De Robertis F., De Rosa G., De Stefano N., Della Corte M., Di Sapio A., Docimo R., Falcini M., Falcone N., Fermi S., Ferraro E., Ferro M., Fortunato M., Foschi M., Gajofatto A., Gallo A., Gallo P., Gatto M., Gazzola P., Giordano A., Granella F., Grasso M., Grimaldi L., Iaffaldano P., Immovilli P., Imperiale D., Inglese M., Iodice R., Leva S., Leuzzi V., Lugaresi A., Lus G., Maimone D., Mancinelli L., Maniscalco G., Marfia G., Margari L., Marinelli F., Marini B., Marson A., Mascoli N., Massacesi L., Melani F., Merello M., Fioretti C., Mirabella M., Montepietra S., Nasuelli D., Nicolao P., Pasquali L., Passantino F., Pecori C., Peresson M., Pesci I., Piantadosi C., Piras M., Pizzorno M., Plewnia K., Pozzilli C., Protti A., Quatrale R., Realmuto S., Ribizzi G., Rinalduzzi S., Rini A., Romano S., Filippi M., Ronzoni M., Rossi P., Rovaris M., Salemi G., Santangelo G., Santangelo M., Leone A., Sarchielli P., Sinisi L., Ferraro D., Solaro C., Spitaleri D., Strumia S., Tassinari T., Santuccio G., Tortorella C., Totaro R., Tozzo A., Trivelli G., Turano G., Valentino P., Venturi S., Vianello M., Zaffaroni M., Zarbo R., Mosconi, P, Guerra, T, Paletta, P, D'Ettorre, A, Ponzio, M, Battaglia, M, Amato, M, Bergamaschi, R, Capobianco, M, Comi, G, Gasperini, C, Patti, F, Pugliatti, M, Ulivelli, M, Trojano, M, Lepore, V, Aguglia, U, Ancona, A, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bertora, P, Bianchi, M, Bramanti, P, Brescia Morra, V, Brichetto, G, Brioschi, A, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capone, F, Capone, L, Cargnelutti, D, Carozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M, Clerici, R, Clerico, M, Cocco, E, Torri Clerici, V, Coniglio, M, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Della Corte, M, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferro, M, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Iaffaldano, P, Immovilli, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Leuzzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G, Marfia, G, Margari, L, Marinelli, F, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Fioretti, C, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Pasquali, L, Passantino, F, Pecori, C, Peresson, M, Pesci, I, Piantadosi, C, Piras, M, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Filippi, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Leone, A, Sarchielli, P, Sinisi, L, Ferraro, D, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Santuccio, G, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Turano, G, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Mosconi P., Guerra T., Paletta P., D'Ettorre A., Ponzio M., Battaglia M. A., Amato M. P., Bergamaschi R., Capobianco M., Comi G., Gasperini C., Patti F., Pugliatti M., Ulivelli M., Trojano M., Lepore V., Aguglia U., Amato M., Ancona A., Ardito B., Avolio C., Balgera R., Banfi P., Barcella V., Barone P., Bellantonio P., Berardinelli A., Bertora P., Bianchi M., Bramanti P., Brescia Morra V., Brichetto G., Brioschi A., Buccafusca M., Bucello S., Busillo V., Calchetti B., Cantello R., Capone F., Capone L., Cargnelutti D., Carozzi M., Cartechini E., Cavaletti G., Cavalla P., Celani M., Clerici R., Clerico M., Cocco E., Torri Clerici V., Coniglio M., Conte A., Corea F., Cottone S., Crociani P., D'Andrea F., Danni M., De Luca G., de Pascalis D., De Riz M., De Robertis F., De Rosa G., De Stefano N., Della Corte M., Di Sapio A., Docimo R., Falcini M., Falcone N., Fermi S., Ferraro E., Ferro M., Fortunato M., Foschi M., Gajofatto A., Gallo A., Gallo P., Gatto M., Gazzola P., Giordano A., Granella F., Grasso M., Grimaldi L., Iaffaldano P., Immovilli P., Imperiale D., Inglese M., Iodice R., Leva S., Leuzzi V., Lugaresi A., Lus G., Maimone D., Mancinelli L., Maniscalco G., Marfia G., Margari L., Marinelli F., Marini B., Marson A., Mascoli N., Massacesi L., Melani F., Merello M., Fioretti C., Mirabella M., Montepietra S., Nasuelli D., Nicolao P., Pasquali L., Passantino F., Pecori C., Peresson M., Pesci I., Piantadosi C., Piras M., Pizzorno M., Plewnia K., Pozzilli C., Protti A., Quatrale R., Realmuto S., Ribizzi G., Rinalduzzi S., Rini A., Romano S., Filippi M., Ronzoni M., Rossi P., Rovaris M., Salemi G., Santangelo G., Santangelo M., Leone A., Sarchielli P., Sinisi L., Ferraro D., Solaro C., Spitaleri D., Strumia S., Tassinari T., Santuccio G., Tortorella C., Totaro R., Tozzo A., Trivelli G., Turano G., Valentino P., Venturi S., Vianello M., Zaffaroni M., and Zarbo R.

Abstract

Introduction: Over the years, disease registers have been increasingly considered a source of reliable and valuable population studies. However, the validity and reliability of data from registers may be limited by missing data, selection bias or data quality not adequately evaluated or checked. This study reports the analysis of the consistency and completeness of the data in the Italian Multiple Sclerosis and Related Disorders Register. Methods: The Register collects, through a standardized Web-based Application, unique patients. Data are exported bimonthly and evaluated to assess the updating and completeness, and to check the quality and consistency. Eight clinical indicators are evaluated. Results: The Register counts 77,628 patients registered by 126 centres. The number of centres has increased over time, as their capacity to collect patients. The percentages of updated patients (with at least one visit in the last 24 months) have increased from 33% (enrolment period 2000–2015) to 60% (enrolment period 2016–2022). In the cohort of patients registered after 2016, there were ≥ 75% updated patients in 30% of the small centres (33), in 9% of the medium centres (11), and in all the large centres (2). Clinical indicators show significant improvement for the active patients, expanded disability status scale every 6 months or once every 12 months, visits every 6 months, first visit within 1 year and MRI every 12 months. Conclusions: Data from disease registers provide guidance for evidence-based health policies and research, so methods and strategies ensuring their quality and reliability are crucial and have several potential applications.

Published
2023

4. Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

Author

Mosconi, P., Guerra, T., Paletta, P., D’Ettorre, A., Ponzio, M., Battaglia, M. A., Amato, M. P., Bergamaschi, R., Capobianco, M., Comi, G., Gasperini, C., Patti, F., Pugliatti, M., Ulivelli, M., Trojano, M., Lepore, V., Aguglia, U., Amato, M., Ancona, A., Ardito, B., Avolio, C., Balgera, R., Banfi, P., Barcella, V., Barone, P., Bellantonio, P., Berardinelli, A., Bertora, P., Bianchi, M., Bramanti, P., Brescia Morra, V., Brichetto, G., Brioschi, A., Buccafusca, M., Bucello, S., Busillo, V., Calchetti, B., Cantello, R., Capone, F., Capone, L., Cargnelutti, D., Carozzi, M., Cartechini, E., Cavaletti, G., Cavalla, P., Celani, M., Clerici, R., Clerico, M., Cocco, E., Torri Clerici, V., Coniglio, M., Conte, A., Corea, F., Cottone, S., Crociani, P., D’Andrea, F., Danni, M., De Luca, G., de Pascalis, D., De Riz, M., De Robertis, F., De Rosa, G., De Stefano, N., Della Corte, M., Di Sapio, A., Docimo, R., Falcini, M., Falcone, N., Fermi, S., Ferraro, E., Ferrò, M., Fortunato, M., Foschi, M., Gajofatto, A., Gallo, A., Gallo, P., Gatto, M., Gazzola, P., Giordano, A., Granella, F., Grasso, M., Grimaldi, L., Iaffaldano, P., Immovilli, P., Imperiale, D., Inglese, M., Iodice, R., Leva, S., Leuzzi, V., Lugaresi, A., Lus, G., Maimone, D., Mancinelli, L., Maniscalco, G., Marfia, G., Margari, L., Marinelli, F., Marini, B., Marson, A., Mascoli, N., Massacesi, L., Melani, F., Merello, M., Fioretti, C., Mirabella, Massimiliano, Montepietra, S., Nasuelli, D., Nicolao, P., Pasquali, L., Passantino, F., Pecori, C., Peresson, M., Pesci, I., Piantadosi, C., Piras, M. L., Pizzorno, M., Plewnia, K., Pozzilli, C., Protti, A., Quatrale, R., Realmuto, S., Ribizzi, G., Rinalduzzi, S., Rini, A., Romano, S., Filippi, M., Ronzoni, M., Rossi, P., Rovaris, M., Salemi, G., Santangelo, G., Santangelo, M., Leone, A., Sarchielli, P., Sinisi, L., Ferraro, D., Solaro, C., Spitaleri, D., Strumia, S., Tassinari, T., Santuccio, G., Tortorella, C., Totaro, R., Tozzo, A., Trivelli, G., Turano, G., Valentino, P., Venturi, S., Vianello, M., Zaffaroni, M., Zarbo, R., Mirabella M. (ORCID:0000-0002-7783-114X), Mosconi, P., Guerra, T., Paletta, P., D’Ettorre, A., Ponzio, M., Battaglia, M. A., Amato, M. P., Bergamaschi, R., Capobianco, M., Comi, G., Gasperini, C., Patti, F., Pugliatti, M., Ulivelli, M., Trojano, M., Lepore, V., Aguglia, U., Amato, M., Ancona, A., Ardito, B., Avolio, C., Balgera, R., Banfi, P., Barcella, V., Barone, P., Bellantonio, P., Berardinelli, A., Bertora, P., Bianchi, M., Bramanti, P., Brescia Morra, V., Brichetto, G., Brioschi, A., Buccafusca, M., Bucello, S., Busillo, V., Calchetti, B., Cantello, R., Capone, F., Capone, L., Cargnelutti, D., Carozzi, M., Cartechini, E., Cavaletti, G., Cavalla, P., Celani, M., Clerici, R., Clerico, M., Cocco, E., Torri Clerici, V., Coniglio, M., Conte, A., Corea, F., Cottone, S., Crociani, P., D’Andrea, F., Danni, M., De Luca, G., de Pascalis, D., De Riz, M., De Robertis, F., De Rosa, G., De Stefano, N., Della Corte, M., Di Sapio, A., Docimo, R., Falcini, M., Falcone, N., Fermi, S., Ferraro, E., Ferrò, M., Fortunato, M., Foschi, M., Gajofatto, A., Gallo, A., Gallo, P., Gatto, M., Gazzola, P., Giordano, A., Granella, F., Grasso, M., Grimaldi, L., Iaffaldano, P., Immovilli, P., Imperiale, D., Inglese, M., Iodice, R., Leva, S., Leuzzi, V., Lugaresi, A., Lus, G., Maimone, D., Mancinelli, L., Maniscalco, G., Marfia, G., Margari, L., Marinelli, F., Marini, B., Marson, A., Mascoli, N., Massacesi, L., Melani, F., Merello, M., Fioretti, C., Mirabella, Massimiliano, Montepietra, S., Nasuelli, D., Nicolao, P., Pasquali, L., Passantino, F., Pecori, C., Peresson, M., Pesci, I., Piantadosi, C., Piras, M. L., Pizzorno, M., Plewnia, K., Pozzilli, C., Protti, A., Quatrale, R., Realmuto, S., Ribizzi, G., Rinalduzzi, S., Rini, A., Romano, S., Filippi, M., Ronzoni, M., Rossi, P., Rovaris, M., Salemi, G., Santangelo, G., Santangelo, M., Leone, A., Sarchielli, P., Sinisi, L., Ferraro, D., Solaro, C., Spitaleri, D., Strumia, S., Tassinari, T., Santuccio, G., Tortorella, C., Totaro, R., Tozzo, A., Trivelli, G., Turano, G., Valentino, P., Venturi, S., Vianello, M., Zaffaroni, M., Zarbo, R., and Mirabella M. (ORCID:0000-0002-7783-114X)

Abstract

IntroductionOver the years, disease registers have been increasingly considered a source of reliable and valuable population studies. However, the validity and reliability of data from registers may be limited by missing data, selection bias or data quality not adequately evaluated or checked.This study reports the analysis of the consistency and completeness of the data in the Italian Multiple Sclerosis and Related Disorders Register.MethodsThe Register collects, through a standardized Web-based Application, unique patients.Data are exported bimonthly and evaluated to assess the updating and completeness, and to check the quality and consistency. Eight clinical indicators are evaluated.ResultsThe Register counts 77,628 patients registered by 126 centres. The number of centres has increased over time, as their capacity to collect patients.The percentages of updated patients (with at least one visit in the last 24 months) have increased from 33% (enrolment period 2000-2015) to 60% (enrolment period 2016-2022). In the cohort of patients registered after 2016, there were >= 75% updated patients in 30% of the small centres (33), in 9% of the medium centres (11), and in all the large centres (2).Clinical indicators show significant improvement for the active patients, expanded disability status scale every 6 months or once every 12 months, visits every 6 months, first visit within 1 year and MRI every 12 months.ConclusionsData from disease registers provide guidance for evidence-based health policies and research, so methods and strategies ensuring their quality and reliability are crucial and have several potential applications.

Published
2023

5. Detection of disability worsening in relapsing-remitting multiple sclerosis patients: a real-world roving Expanded Disability Status Scale reference analysis from the Italian Multiple Sclerosis Register

Author

Lepore, V, Bosetti, C, Santucci, C, Iaffaldano, P, Trojano, M, Mosconi, P, Totaro, R, Coniglio, M, Bossio, R, Valentino, P, Gatto, M, Paolicelli, D, Ardito, B, Barcella, V, Capone, L, Nicolao, P, Lugaresi, A, Rini, A, Bianchi, M, Plasmati, I, Cocco, E, Docimo, R, De Luca, G, Mondino, F, Di Sapio, A, Clerici, R, Mascoli, N, Ferro, M, Chisari, C, Maimone, D, Strumia, S, Pugliatti, M, Cargnelutti, D, Caniatti, L, Avolio, C, Crociani, P, Amato, M, Massacesi, L, Malagu, S, Ribizzi, G, Inglese, M, Venturi, S, Gazzola, P, Pizio, N, Brichetto, G, Plewnia, K, Bellantonio, P, Balgera, R, De Robertis, F, Fermi, S, Fausto, F, Mazzoni, M, Meucci, G, Cartechini, E, Cavaletti, G, Buccafusca, M, Bramanti, P, Romeo, M, Rovaris, M, Ronzoni, M, Confalonieri, P, Chiveri, L, Bertora, P, Tonietti, S, De Riz, M, Protti, A, Sola, P, Maremmani, C, Lus, G, Gallo, A, Maniscalco, G, Morra, V, Cacchio, G, Iodice, R, Ragno, M, Sinisi, L, Cantello, R, Piras, M, Salemi, G, Cottone, S, Grimaldi, L, Corea, F, Santangelo, G, Immovili, P, Gallo, P, D'Andrea, F, Frittelli, C, Pasquali, L, Falcini, M, Granella, F, Pesci, I, Ancona, A, Bergamaschi, R, Giordano, A, Di Napoli, M, Romano, S, Pozzilli, C, Mirabella, M, Conte, A, Galgani, S, Peresson, M, Grasso, M, Ferraro, E, Capone, F, Marfia, G, de Pascalis, D, Piantadosi, C, Valeriani, M, Busillo, V, Barone, P, De Stefano, N, Ulivelli, M, Santuccio, G, Parodi, S, Bucello, S, Traccis, S, Zarbo, R, Tassinari, T, Bandini, F, Cavalla, P, Clerico, M, De Rosa, G, Bertolotto, A, Imperiale, D, Sarchielli, P, Celani, M, Vianello, M, Marini, B, Fortunato, M, Zaffaroni, M, Nasuelli, D, Banfi, P, Brioschi, A, Solaro, C, Quatrale, R, Rossi, P, Gajofatto, A, Battaglia, M, Capobianco, M, Patti, F, Comi, G, Lepore V., Bosetti C., Santucci C., Iaffaldano P., Trojano M., Mosconi P., Totaro R., Coniglio M. G., Bossio R. B., Valentino P., Gatto M., Paolicelli D., Ardito B., Barcella V., Capone L., Nicolao P., Lugaresi A., Rini A., Bianchi M., Plasmati I., Cocco E., Docimo R., De Luca G., Mondino F., Di Sapio A., Clerici R., Mascoli N., Ferro M. T., Chisari C. G., Maimone D., Strumia S., Pugliatti M., Cargnelutti D., Caniatti L. M., Avolio C., Crociani P., Amato M. P., Massacesi L., Malagu S., Ribizzi G., Inglese M., Venturi S., Gazzola P., Pizio N. R., Brichetto G., Plewnia K., Bellantonio P., Balgera R., De Robertis F., Fermi S., Fausto F., Mazzoni M., Meucci G., Cartechini E., Cavaletti G., Buccafusca M., Bramanti P., Romeo M., Rovaris M., Ronzoni M., Confalonieri P., Chiveri L., Bertora P., Tonietti S., De Riz M., Protti A., Sola P., Maremmani C., Lus G., Gallo A., Maniscalco G. T., Morra V. B., Cacchio G., Iodice R., Ragno M., Sinisi L., Cantello R., Piras M. L., Salemi G., Cottone S., Grimaldi L. M. E., Corea F., Santangelo G., Immovili P., Gallo P., D'Andrea F., Frittelli C., Pasquali L., Falcini M., Granella F., Pesci I., Ancona A. L., Bergamaschi R., Giordano A., Di Napoli M., Romano S., Pozzilli C., Mirabella M., Conte A., Galgani S., Peresson M., Grasso M. G., Ferraro E., Capone F., Marfia G. A., de Pascalis D., Piantadosi C., Valeriani M., Busillo V., Barone P., De Stefano N., Ulivelli M., Santuccio G., Parodi S., Bucello S., Traccis S., Zarbo R., Tassinari T., Bandini F., Cavalla P., Clerico M., De Rosa G., Bertolotto A., Imperiale D., Sarchielli P., Celani M. G., Vianello M., Marini B., Fortunato M., Zaffaroni M., Nasuelli D., Banfi P., Brioschi A. M., Solaro C., Quatrale R., Rossi P., Gajofatto A., Battaglia M. A., Capobianco M., Patti F., Comi G., Lepore, V, Bosetti, C, Santucci, C, Iaffaldano, P, Trojano, M, Mosconi, P, Totaro, R, Coniglio, M, Bossio, R, Valentino, P, Gatto, M, Paolicelli, D, Ardito, B, Barcella, V, Capone, L, Nicolao, P, Lugaresi, A, Rini, A, Bianchi, M, Plasmati, I, Cocco, E, Docimo, R, De Luca, G, Mondino, F, Di Sapio, A, Clerici, R, Mascoli, N, Ferro, M, Chisari, C, Maimone, D, Strumia, S, Pugliatti, M, Cargnelutti, D, Caniatti, L, Avolio, C, Crociani, P, Amato, M, Massacesi, L, Malagu, S, Ribizzi, G, Inglese, M, Venturi, S, Gazzola, P, Pizio, N, Brichetto, G, Plewnia, K, Bellantonio, P, Balgera, R, De Robertis, F, Fermi, S, Fausto, F, Mazzoni, M, Meucci, G, Cartechini, E, Cavaletti, G, Buccafusca, M, Bramanti, P, Romeo, M, Rovaris, M, Ronzoni, M, Confalonieri, P, Chiveri, L, Bertora, P, Tonietti, S, De Riz, M, Protti, A, Sola, P, Maremmani, C, Lus, G, Gallo, A, Maniscalco, G, Morra, V, Cacchio, G, Iodice, R, Ragno, M, Sinisi, L, Cantello, R, Piras, M, Salemi, G, Cottone, S, Grimaldi, L, Corea, F, Santangelo, G, Immovili, P, Gallo, P, D'Andrea, F, Frittelli, C, Pasquali, L, Falcini, M, Granella, F, Pesci, I, Ancona, A, Bergamaschi, R, Giordano, A, Di Napoli, M, Romano, S, Pozzilli, C, Mirabella, M, Conte, A, Galgani, S, Peresson, M, Grasso, M, Ferraro, E, Capone, F, Marfia, G, de Pascalis, D, Piantadosi, C, Valeriani, M, Busillo, V, Barone, P, De Stefano, N, Ulivelli, M, Santuccio, G, Parodi, S, Bucello, S, Traccis, S, Zarbo, R, Tassinari, T, Bandini, F, Cavalla, P, Clerico, M, De Rosa, G, Bertolotto, A, Imperiale, D, Sarchielli, P, Celani, M, Vianello, M, Marini, B, Fortunato, M, Zaffaroni, M, Nasuelli, D, Banfi, P, Brioschi, A, Solaro, C, Quatrale, R, Rossi, P, Gajofatto, A, Battaglia, M, Capobianco, M, Patti, F, Comi, G, Lepore V., Bosetti C., Santucci C., Iaffaldano P., Trojano M., Mosconi P., Totaro R., Coniglio M. G., Bossio R. B., Valentino P., Gatto M., Paolicelli D., Ardito B., Barcella V., Capone L., Nicolao P., Lugaresi A., Rini A., Bianchi M., Plasmati I., Cocco E., Docimo R., De Luca G., Mondino F., Di Sapio A., Clerici R., Mascoli N., Ferro M. T., Chisari C. G., Maimone D., Strumia S., Pugliatti M., Cargnelutti D., Caniatti L. M., Avolio C., Crociani P., Amato M. P., Massacesi L., Malagu S., Ribizzi G., Inglese M., Venturi S., Gazzola P., Pizio N. R., Brichetto G., Plewnia K., Bellantonio P., Balgera R., De Robertis F., Fermi S., Fausto F., Mazzoni M., Meucci G., Cartechini E., Cavaletti G., Buccafusca M., Bramanti P., Romeo M., Rovaris M., Ronzoni M., Confalonieri P., Chiveri L., Bertora P., Tonietti S., De Riz M., Protti A., Sola P., Maremmani C., Lus G., Gallo A., Maniscalco G. T., Morra V. B., Cacchio G., Iodice R., Ragno M., Sinisi L., Cantello R., Piras M. L., Salemi G., Cottone S., Grimaldi L. M. E., Corea F., Santangelo G., Immovili P., Gallo P., D'Andrea F., Frittelli C., Pasquali L., Falcini M., Granella F., Pesci I., Ancona A. L., Bergamaschi R., Giordano A., Di Napoli M., Romano S., Pozzilli C., Mirabella M., Conte A., Galgani S., Peresson M., Grasso M. G., Ferraro E., Capone F., Marfia G. A., de Pascalis D., Piantadosi C., Valeriani M., Busillo V., Barone P., De Stefano N., Ulivelli M., Santuccio G., Parodi S., Bucello S., Traccis S., Zarbo R., Tassinari T., Bandini F., Cavalla P., Clerico M., De Rosa G., Bertolotto A., Imperiale D., Sarchielli P., Celani M. G., Vianello M., Marini B., Fortunato M., Zaffaroni M., Nasuelli D., Banfi P., Brioschi A. M., Solaro C., Quatrale R., Rossi P., Gajofatto A., Battaglia M. A., Capobianco M., Patti F., and Comi G.

Abstract

Background and purpose: In relapsing-remitting multiple sclerosis patients (RRMS) disability progressively accumulates over time. To compare the cumulative probability of 6-month confirmed disability-worsening events using a fixed baseline or a roving Expanded Disability Status Scale (EDSS) reference, in a real-world setting. Methods: A cohort of 7964 RRMS patients followed for 2 or more years, with EDSS scores recorded every 6 months, was selected from the Italian Multiple Sclerosis Register. The overall probability of confirmed disability-worsening events and of confirmed disability-worsening events unrelated to relapse was evaluated using as reference a fixed baseline EDSS score or a roving EDSS score in which the increase had to be separated from the last EDSS assessment by at least 6 or 12 months. Results: Using a fixed baseline EDSS reference, the cumulative probability of 6-year overall confirmed disability-worsening events was 33.2%, and that of events unrelated to relapse was 10.9% (33% of overall confirmed disability-worsening events). Using a roving EDSS, the proportions were respectively 35.2% and 21.3% (61% of overall confirmed disability-worsening events). Conclusions: In a real-world setting, roving EDSS reference scores appear to be more sensitive for detecting confirmed disability-worsening events unrelated to relapse in RRMS patients.

Published
2021

6. Do patients' and referral centers' characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related disorders register

Author

Bergamaschi, R, Beghi, E, Bosetti, C, Ponzio, M, Santucci, C, Lepore, V, Mosconi, P, Aguglia, U, Amato, M, Ancona, A, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bertora, P, Bianchi, M, Bramanti, P, Morra, V, Brichetto, G, Brioschi, A, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capobianco, M, Capone, F, Capone, L, Cargnelutti, D, Carrozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M, Clerici, R, Clerico, M, Cocco, E, Confalonieri, P, Coniglio, M, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Corte, M, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferrò, M, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Iaffaldano, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Luezzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G, Marfia, G, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Passantino, F, Patti, F, Peresson, M, Pesci, I, Piantadosi, C, Piras, M, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Romeo, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Santuccio, G, Sarchielli, P, Sinisi, L, Sola, P, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Tonietti, S, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Ulivelli, M, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Trojano, M, Battaglia, M, Pugliatti, M, Gasperini, C, Comi, G, Bergamaschi, Roberto, Beghi, Ettore, Bosetti, Cristina, Ponzio, Michela, Santucci, Claudia, Lepore, Vito, Mosconi, Paola, Amato, M P, Ancona, A L, Morra, V Brescia, Brioschi, A M, Celani, M G, Coniglio, M G, Danni, M C, Corte, M Della, Ferrò, M T, Grasso, M F, Grasso, M G, Grimaldi, L M E, Maniscalco, G T, Marfia, G A, Piras, M L, Trojano, Maria, Battaglia, Mario Alberto, Capobianco, Marco, Pugliatti, Maura, Ulivelli, Monica, Gasperini, Claudio, Patti, Francesco, Amato, Maria Pia, Comi, Giancarlo, Bergamaschi, R, Beghi, E, Bosetti, C, Ponzio, M, Santucci, C, Lepore, V, Mosconi, P, Aguglia, U, Amato, M, Ancona, A, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bertora, P, Bianchi, M, Bramanti, P, Morra, V, Brichetto, G, Brioschi, A, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capobianco, M, Capone, F, Capone, L, Cargnelutti, D, Carrozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M, Clerici, R, Clerico, M, Cocco, E, Confalonieri, P, Coniglio, M, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Corte, M, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferrò, M, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Iaffaldano, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Luezzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G, Marfia, G, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Passantino, F, Patti, F, Peresson, M, Pesci, I, Piantadosi, C, Piras, M, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Romeo, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Santuccio, G, Sarchielli, P, Sinisi, L, Sola, P, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Tonietti, S, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Ulivelli, M, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Trojano, M, Battaglia, M, Pugliatti, M, Gasperini, C, Comi, G, Bergamaschi, Roberto, Beghi, Ettore, Bosetti, Cristina, Ponzio, Michela, Santucci, Claudia, Lepore, Vito, Mosconi, Paola, Amato, M P, Ancona, A L, Morra, V Brescia, Brioschi, A M, Celani, M G, Coniglio, M G, Danni, M C, Corte, M Della, Ferrò, M T, Grasso, M F, Grasso, M G, Grimaldi, L M E, Maniscalco, G T, Marfia, G A, Piras, M L, Trojano, Maria, Battaglia, Mario Alberto, Capobianco, Marco, Pugliatti, Maura, Ulivelli, Monica, Gasperini, Claudio, Patti, Francesco, Amato, Maria Pia, and Comi, Giancarlo

Abstract

Background: Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. Methods: This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000–2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing–remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers’ characteristics, geographic macro-areas, and Deprivation Index. We computed the odds ratios (OR) for CIS, PP/PR, and SP phenotypes, compared to the RR, using multivariate, multinomial, mixed effects logistic regression models. Results: In all 35,243 patients from 106 centers were included. The OR of presenting more advanced MS phenotypes than the RR phenotype at first visit significantly diminished in relation to calendar period. Females were at a significantly lower risk of a PP/PR or SP phenotype. Older age was associated with CIS, PP/PR, and SP. The risk of a longer interval between disease onset and first visit was lower for the CIS phenotype, but higher for PP/PR and SP. The probability of SP at first visit was greater in the South of Italy. Discussion: Differences in the phenotype of MS patients first seen in Italian centers can be only partly explained by differences in the centers’ characteristics. The demographic and socio-economic characteristics of MS patients seem to be the main determinants of the phenotypes at first referral.

Published
2022

7. Recommendations of the Sleep Study Group of the Italian Dementia Research Association (SINDem) on clinical assessment and management of sleep disorders in individuals with mild cognitive impairment and dementia: a clinical review

Author

Guarnieri, B., Musicco, M., Caffarra, P., Adorni, F., Appollonio, I., Arnaldi, D., Bartoli, A., Bonanni, E., Bonuccelli, U., Caltagirone, C., Cerroni, G., Concari, L., Cosentino, F. I. I., Fermi, S., Ferri, R., Gelosa, G., Lombardi, G., Mearelli, S., Nobili, F., Passero, S., Perri, R., Rocchi, R., Sucapane, P., Tognoni, G., Zabberoni, S., and Sorbi, S.

Published
2014
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8. Detection of disability worsening in relapsing-remitting multiple sclerosis patients: a real-world roving Expanded Disability Status Scale reference analysis from the Italian Multiple Sclerosis Register

Author

Lepore, V., Bosetti, C., Santucci, C., Iaffaldano, P., Trojano, M., Mosconi, P., Totaro, R., Coniglio, M. G., Bossio, R. B., Valentino, P., Gatto, M., Paolicelli, D., Ardito, B., Barcella, V., Capone, L., Nicolao, P., Lugaresi, A., Rini, A., Bianchi, M., Plasmati, I., Cocco, E., Docimo, R., De Luca, G., Mondino, F., Di Sapio, A., Clerici, R., Mascoli, N., Ferro, M. T., Chisari, C. G., Maimone, D., Strumia, S., Pugliatti, M., Cargnelutti, D., Caniatti, L. M., Avolio, C., Crociani, P., Amato, M. P., Massacesi, L., Malagu, S., Ribizzi, G., Inglese, M., Venturi, S., Gazzola, P., Pizio, N. R., Brichetto, G., Plewnia, K., Bellantonio, P., Balgera, R., De Robertis, F., Fermi, S., Fausto, F., Mazzoni, M., Meucci, G., Cartechini, E., Cavaletti, G., Buccafusca, M., Bramanti, P., Romeo, M., Rovaris, M., Ronzoni, M., Confalonieri, P., Chiveri, L., Bertora, P., Tonietti, S., De Riz, M., Protti, A., Sola, P., Maremmani, C., Lus, G., Gallo, A., Maniscalco, G. T., Morra, V. B., Cacchio, G., Iodice, R., Ragno, M., Sinisi, L., Cantello, R., Piras, M. L., Salemi, G., Cottone, S., Grimaldi, L. M. E., Corea, F., Santangelo, G., Immovili, P., Gallo, P., D'Andrea, F., Frittelli, C., Pasquali, L., Falcini, M., Granella, F., Pesci, I., Ancona, A. L., Bergamaschi, R., Di Napoli, M., Romano, S., Pozzilli, C., Mirabella, Massimiliano, Conte, A., Galgani, S., Peresson, M., Grasso, M. G., Ferraro, E., Capone, F., Marfia, G. A., de Pascalis, D., Piantadosi, C., Valeriani, M., Busillo, V., Barone, P., De Stefano, N., Ulivelli, M., Santuccio, G., Parodi, S., Bucello, S., Traccis, S., Zarbo, R., Tassinari, T., Bandini, F., Cavalla, P., Clerico, M., De Rosa, G., Bertolotto, A., Imperiale, D., Sarchielli, P., Celani, M. G., Vianello, M., Marini, B., Fortunato, M., Zaffaroni, M., Nasuelli, D., Banfi, P., Brioschi, A. M., Solaro, C., Quatrale, R., Rossi, P., Gajofatto, A., Battaglia, M. A., Capobianco, M., Patti, F., Comi, G., Giordano, A., Mirabella M. (ORCID:0000-0002-7783-114X), Lepore, V., Bosetti, C., Santucci, C., Iaffaldano, P., Trojano, M., Mosconi, P., Totaro, R., Coniglio, M. G., Bossio, R. B., Valentino, P., Gatto, M., Paolicelli, D., Ardito, B., Barcella, V., Capone, L., Nicolao, P., Lugaresi, A., Rini, A., Bianchi, M., Plasmati, I., Cocco, E., Docimo, R., De Luca, G., Mondino, F., Di Sapio, A., Clerici, R., Mascoli, N., Ferro, M. T., Chisari, C. G., Maimone, D., Strumia, S., Pugliatti, M., Cargnelutti, D., Caniatti, L. M., Avolio, C., Crociani, P., Amato, M. P., Massacesi, L., Malagu, S., Ribizzi, G., Inglese, M., Venturi, S., Gazzola, P., Pizio, N. R., Brichetto, G., Plewnia, K., Bellantonio, P., Balgera, R., De Robertis, F., Fermi, S., Fausto, F., Mazzoni, M., Meucci, G., Cartechini, E., Cavaletti, G., Buccafusca, M., Bramanti, P., Romeo, M., Rovaris, M., Ronzoni, M., Confalonieri, P., Chiveri, L., Bertora, P., Tonietti, S., De Riz, M., Protti, A., Sola, P., Maremmani, C., Lus, G., Gallo, A., Maniscalco, G. T., Morra, V. B., Cacchio, G., Iodice, R., Ragno, M., Sinisi, L., Cantello, R., Piras, M. L., Salemi, G., Cottone, S., Grimaldi, L. M. E., Corea, F., Santangelo, G., Immovili, P., Gallo, P., D'Andrea, F., Frittelli, C., Pasquali, L., Falcini, M., Granella, F., Pesci, I., Ancona, A. L., Bergamaschi, R., Di Napoli, M., Romano, S., Pozzilli, C., Mirabella, Massimiliano, Conte, A., Galgani, S., Peresson, M., Grasso, M. G., Ferraro, E., Capone, F., Marfia, G. A., de Pascalis, D., Piantadosi, C., Valeriani, M., Busillo, V., Barone, P., De Stefano, N., Ulivelli, M., Santuccio, G., Parodi, S., Bucello, S., Traccis, S., Zarbo, R., Tassinari, T., Bandini, F., Cavalla, P., Clerico, M., De Rosa, G., Bertolotto, A., Imperiale, D., Sarchielli, P., Celani, M. G., Vianello, M., Marini, B., Fortunato, M., Zaffaroni, M., Nasuelli, D., Banfi, P., Brioschi, A. M., Solaro, C., Quatrale, R., Rossi, P., Gajofatto, A., Battaglia, M. A., Capobianco, M., Patti, F., Comi, G., Giordano, A., and Mirabella M. (ORCID:0000-0002-7783-114X)

Abstract

Background and purpose: In relapsing-remitting multiple sclerosis patients (RRMS) disability progressively accumulates over time. To compare the cumulative probability of 6-month confirmed disability-worsening events using a fixed baseline or a roving Expanded Disability Status Scale (EDSS) reference, in a real-world setting. Methods: A cohort of 7964 RRMS patients followed for 2 or more years, with EDSS scores recorded every 6 months, was selected from the Italian Multiple Sclerosis Register. The overall probability of confirmed disability-worsening events and of confirmed disability-worsening events unrelated to relapse was evaluated using as reference a fixed baseline EDSS score or a roving EDSS score in which the increase had to be separated from the last EDSS assessment by at least 6 or 12 months. Results: Using a fixed baseline EDSS reference, the cumulative probability of 6-year overall confirmed disability-worsening events was 33.2%, and that of events unrelated to relapse was 10.9% (33% of overall confirmed disability-worsening events). Using a roving EDSS, the proportions were respectively 35.2% and 21.3% (61% of overall confirmed disability-worsening events). Conclusions: In a real-world setting, roving EDSS reference scores appear to be more sensitive for detecting confirmed disability-worsening events unrelated to relapse in RRMS patients.

Published
2020

15. Recommendations of the Sleep Study Group of the Italian Dementia Research Association (SINDem) on clinical assessment and management of sleep disorders in individuals with mild cognitive impairment and dementia: a clinical review

Author

Guarnieri, B, Musicco, M, Caffarra, P, Adorni, F, Appollonio, I, Arnaldi, D, Bartoli, A, Bonanni, E, Bonuccelli, U, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mearelli, S, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, Sorbi, S, Sorbi, S., APPOLLONIO, ILDEBRANDO, FERMI, SILVIA, GELOSA, GIORGIO, Guarnieri, B, Musicco, M, Caffarra, P, Adorni, F, Appollonio, I, Arnaldi, D, Bartoli, A, Bonanni, E, Bonuccelli, U, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mearelli, S, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, Sorbi, S, Sorbi, S., APPOLLONIO, ILDEBRANDO, FERMI, SILVIA, and GELOSA, GIORGIO

Abstract

Clinical assessment and management of sleep disturbances in patients with mild cognitive impairment and dementia has important clinical and social implications. Poor sleep results in an increased risk of morbidities and mortality in demented patients and is a source of stress for caregivers. Sleep disturbances show high prevalence in mild cognitive impairment and dementia patients and they are often associated one to another in the same patient. A careful clinical evaluation of sleep disorders should be performed routinely in the clinical setting of individuals with cognitive decline. The Sleep Study Group of the Italian Dementia Research Association (SINDem) reviewed evidence from original research articles, meta-analyses and systematic reviews published up to December 2013. The evidence was classified in quality levels (I, II, III) and strength of recommendations (A, B, C, D, E). Where there was a lack of evidence, but clear consensus, good practice points were provided. These recommendations may not be appropriate for all circumstances and should therefore be adopted only after a patient's individual characteristics have been carefully evaluated.

Published
2014

16. Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease

Author

Sala, G, Stefanoni, G, Arosio, A, Riva, C, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, RIVA, CHIARA, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Sala, G, Stefanoni, G, Arosio, A, Riva, C, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, RIVA, CHIARA, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, and FERRARESE, CARLO

Abstract

Chaperone-mediated autophagy (CMA) impairment is recognized to play a pathogenetic role in Parkinson's disease (PD). A reduced expression of lysosomal-associated membrane protein (lamp) 2A and heat shock cognate (hsc) 70 protein, the two key regulators of CMA, has been reported in brains of PD patients. To verify the existence of a possible systemic CMA dysfunction in PD, in this study the expression of hsc70 and lamp2A was assessed in peripheral blood mononuclear cells (PBMC) of patients with sporadic PD and compared to healthy subjects. The expression of myocyte enhancer factor 2D (MEF2D), a transcriptional factor implicated in neuronal survival and specific substrate of CMA, was also evaluated. Protein and gene expression was assessed by Western blot and real-time PCR, respectively, in PBMC obtained from 53 sporadic PD patients and 53 healthy subjects. A significant reduction of hsc70 levels was observed in PBMC of PD patients, both under basal conditions and after autophagy induction obtained with serum deprivation. No difference emerged in lamp2A and MEF2D expression between patients and controls. No influence of the clinical characteristics of patients emerged on hsc70, lamp2A and MEF2D expression. These results, despite being not suggestive of the existence of a CMA impairment in PBMC of PD patients, identify a systemic hsc70 reduction in PD patients. Further studies on specific mechanisms and biological significance of such alteration are needed to corroborate this finding that could lead to the identification of a new trait biomarker for PD

Published
2014

17. Study of alpha-synuclein and its catabolic pathways in lymphomonocytes of patients with Parkinson's disease

Author

Sala, G, Stefanoni, G, Arosio, A, Riva, C, Marinig, D, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, RIVA, CHIARA, MARINIG, DANIELE, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Sala, G, Stefanoni, G, Arosio, A, Riva, C, Marinig, D, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, RIVA, CHIARA, MARINIG, DANIELE, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, and FERRARESE, CARLO

Published
2013

18. Analysis of vesicular monoamine transporter 2 polymorphisms in Parkinson's disease

Author

Brighina, L, Riva, C, Bertola, F, Saracchi, E, Fermi, S, Goldwurm, S, Ferrarese, C, BRIGHINA, LAURA, RIVA, CHIARA, SARACCHI, ENRICO, FERMI, SILVIA, FERRARESE, CARLO, Brighina, L, Riva, C, Bertola, F, Saracchi, E, Fermi, S, Goldwurm, S, Ferrarese, C, BRIGHINA, LAURA, RIVA, CHIARA, SARACCHI, ENRICO, FERMI, SILVIA, and FERRARESE, CARLO

Abstract

Generation of reactive oxygen species during dopamine (DA) oxidation could be one of the factors leading to the selective loss of nigral dopaminergic neurons in Parkinson's disease (PD). Vesicular monoamine transporter type 2 (VMAT2) proteins in nerve terminals uptake dopamine into synaptic vesicles, preventing its cytoplasmic accumulation and toxic damage to nigral neurons. Polymorphisms in VMAT2 gene and in its regulatory regions might therefore serve as genetic risk factors for PD. In the present study, we have analyzed 8 single-nucleotide polymorphisms (SNPs) located within/around the VMAT2 gene for association with PD in an Italian cohort composed of 704 PD patients and 678 healthy controls. Among the 8 SNPs studied, only the 2 located within the promoter region (rs363371 and rs363324) were significantly associated with PD. In the dominant model, odds ratios were 0.72 (95% confidence interval [CI]: 0.6-0.9, p < 0.005) for rs363371 and 0.76 (95% CI: 0.6-0.9, p = 0.01) for rs363324; in the additive model, odds ratios were 0.78 (95% CI: 0.65-0.94, p = 0.008) for rs363371 and 0.85 (95% CI: 0.7-20.92, p = 0.04) for rs363324. There were no significant relationships between the remaining SNPs (rs363333, rs363399, rs363387, rs363343, rs4752045, and rs363236) and the risk of sporadic PD in any genetic model. This study adds to the previous evidence suggesting that variability in VMAT2 promoter region may confer a reduced risk of developing PD, presumably via mechanisms of gene overexpression

Published
2013

19. Prevalence of sleep disturbances in mild cognitive impairment and dementing disorders: a multicenter Italian clinical cross-sectional study on 431 patients

Author

Guarnieri, B, Adorni, F, Musicco, M, Appollonio, I, Bonanni, E, Caffarra, P, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Ferrara, S, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mazzei, D, Mearelli, S, Morrone, E, Murri, L, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, Sorbi, S, Sorbi, S., APPOLLONIO, ILDEBRANDO, FERMI, SILVIA, GELOSA, GIORGIO, Guarnieri, B, Adorni, F, Musicco, M, Appollonio, I, Bonanni, E, Caffarra, P, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Ferrara, S, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mazzei, D, Mearelli, S, Morrone, E, Murri, L, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, Sorbi, S, Sorbi, S., APPOLLONIO, ILDEBRANDO, FERMI, SILVIA, and GELOSA, GIORGIO

Abstract

Sleep disturbances are common in the elderly and in persons with cognitive decline. The aim of this study was to describe frequency and characteristics of insomnia, excessive daytime sleepiness, sleep-disordered breathing, REM behavior disorder and restless legs syndrome in a large cohort of persons with mild cognitive impairment or dementia.

Published
2012

20. Chaperone mediated autophagy in Parkinson's disease: Study in peripheral blood cells from patients and in a cellular model

Author

Stefanoni, G, Sala, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, STEFANONI, GIOVANNI, SALA, GESSICA, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Stefanoni, G, Sala, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, STEFANONI, GIOVANNI, SALA, GESSICA, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, and FERRARESE, CARLO

Published
2011

21. Dysfunction of chaperone-mediated autophagy in lymphomonocytes from patients with Parkinson's disease and in a cellular model

Author

Stefanoni, G, Sala, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, STEFANONI, GIOVANNI, SALA, GESSICA, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Stefanoni, G, Sala, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, STEFANONI, GIOVANNI, SALA, GESSICA, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, and FERRARESE, CARLO

Published
2011

22. Association analysis of PARP1 polymorphisms with Parkinson's disease

Author

Brighina, L, Riva, C, Bertola, F, Fermi, S, Saracchi, E, Piolti, R, Goldwurm, S, Pezzoli, G, Ferrarese, C, BRIGHINA, LAURA, RIVA, CHIARA, FERMI, SILVIA, SARACCHI, ENRICO, FERRARESE, CARLO, Brighina, L, Riva, C, Bertola, F, Fermi, S, Saracchi, E, Piolti, R, Goldwurm, S, Pezzoli, G, Ferrarese, C, BRIGHINA, LAURA, RIVA, CHIARA, FERMI, SILVIA, SARACCHI, ENRICO, and FERRARESE, CARLO

Abstract

Alpha-synuclein accumulation in intracellular inclusions, oxidative stress and microglia-mediated inflammation in the substantia nigra are crucial events in the pathogenesis of Parkinson's disease (PD). Poly (ADP-ribose) polymerase-1 (PARP1), a DNA-binding enzyme and transcriptional regulator, plays an important role in modulating the cellular response to oxidative stress, inflammatory stimuli, and in apoptotic cell death. Inhibition of PARP1 results in significant neuroprotection in PD animal models; moreover PARP1 has a physiological role in the regulation of alpha-synuclein expression. A previous study had demonstrated that variants located within the PARP1 gene promoter reduce the risk of PD and delay the disease age at onset. In light of these data, we carried out an association study to investigate whether variability within this gene is associated with PD risk and disease age at onset in an Italian cohort composed of 600 PD patients and 592 healthy controls. To this purpose, we used a comprehensive tag SNP approach spanning the entire gene and the upstream and downstream regions. We did not detect any significant association of the PARP1 gene with PD either at genotypic or haplotypic level; none of the 11 genotyped SNPs was significantly associated with PD age at onset. We conclude that, despite previous evidence, PARP1 is not a susceptibility gene for PD in our population.

Published
2011

23. Generalized action myoclonus associated with escitalopram in a patient with mixed dementia

Author

Tremolizzo, L, Fermi, S, Fusco, M, Susani, E, Frigo, M, Piolti, R, Ferrarese, C, Appollonio, I, TREMOLIZZO, LUCIO, FERMI, SILVIA, FUSCO, MARIA LETIZIA, SUSANI, EMANUELA LAURA, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, Tremolizzo, L, Fermi, S, Fusco, M, Susani, E, Frigo, M, Piolti, R, Ferrarese, C, Appollonio, I, TREMOLIZZO, LUCIO, FERMI, SILVIA, FUSCO, MARIA LETIZIA, SUSANI, EMANUELA LAURA, FERRARESE, CARLO, and APPOLLONIO, ILDEBRANDO

Published
2011

24. Assessment of chaperone-mediated autophagy in circulating lymphomonocytes of patients with Parkinson disease

Author

Sala, G, Stefanoni, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Sala, G, Stefanoni, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, Ferrarese, C, SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, and FERRARESE, CARLO

Published
2011

25. Complicanze neurologiche di malattie internistiche

Author

Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, DI FRANCESCO, J, DI FRANCESCO, JACOPO COSIMO, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, DI FRANCESCO, J, DI FRANCESCO, JACOPO COSIMO, and APPOLLONIO, ILDEBRANDO

Published
2011

26. Fisiopatologia e semeiologia della sensibilità

Author

Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, FERMI, SILVIA, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, FERMI, SILVIA, and APPOLLONIO, ILDEBRANDO

Published
2011

27. Infezioni del sistema nervoso centrale

Author

Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, Fusco, M, FUSCO, MARIA LETIZIA, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, Fusco, M, FUSCO, MARIA LETIZIA, and APPOLLONIO, ILDEBRANDO

Published
2011

28. Vesicular monoamine transporter 2 mRNA levels are reduced in platelets from patients with Parkinson's disease

Author

Sala, G, Brighina, L, Saracchi, E, Fermi, S, Riva, C, Carrozza, V, Pirovano, M, Ferrarese, C, SALA, GESSICA, RIVA, CHIARA, FERRARESE, CARLO, Sala, G, Brighina, L, Saracchi, E, Fermi, S, Riva, C, Carrozza, V, Pirovano, M, Ferrarese, C, SALA, GESSICA, RIVA, CHIARA, and FERRARESE, CARLO

Abstract

Despite advances in neuroimaging, the diagnosis of idiopathic Parkinson's disease (PD) remains clinical. The identification of biological markers for an early diagnosis is of great interest to start a neuroprotective therapy aimed at slowing, blocking or reversing the disease progression. Vesicular monoamine transporter 2 (VMAT2) sequesters cytoplasmic dopamine into synaptic vesicles for storage and release. Thus, VMAT2 impairment can regulate intra- and extracellular dopamine levels, influencing oxidative stress and neuronal death. Because in vivo imaging studies have demonstrated a VMAT2 reduction in PD patients greater than would be explained by neuronal loss alone, as an exploratory study we assessed VMAT2 mRNA and protein levels in platelets from 39 PD patients, 39 healthy subjects and 10 patients with vascular parkinsonism (VP) to identify a possible peripheral biomarker for PD. A significant reduction (p < 0.05) of VMAT2 mRNA levels was demonstrated in PD patients versus healthy controls. Patients with VP showed VMAT2 mRNA levels similar to controls. No difference in VMAT2 mRNA levels was found in untreated versus treated patients. No correlation was observed between mRNA levels and demographic or clinical characteristics. Furthermore, eight SNPs tagging the VMAT2 gene did not show effects on VMAT2 mRNA levels. Western blot analysis did not allow the quantification of VMAT2 protein expression in blood platelets. Although further studies in a greater number of cases are needed to confirm our data, the reduction in VMAT2 mRNA in platelets from PD patients suggests the existence of a systemic impairment of this transporter possibly contributing to PD pathology.

Published
2010

29. Demenza e sclerosi laterale amiotrofica: da associazione insolita a cotinuum

Author

Alberti, P, Fermi, S, Tremolizzo, L, Riva, M, Ferrarese, C, Appollonio, I, ALBERTI, PAOLA, RIVA, MICHELE AUGUSTO, TREMOLIZZO, LUCIO, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, Alberti, P, Fermi, S, Tremolizzo, L, Riva, M, Ferrarese, C, Appollonio, I, ALBERTI, PAOLA, RIVA, MICHELE AUGUSTO, TREMOLIZZO, LUCIO, FERRARESE, CARLO, and APPOLLONIO, ILDEBRANDO

Published
2010

30. Sclerosi laterale amiotrofica e demenza: associazione insolita o continuum

Author

Alberti, P, Fermi, S, Tremolizzo, L, Ferrarese, C, Appollonio, I, ALBERTI, PAOLA, TREMOLIZZO, LUCIO, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, Alberti, P, Fermi, S, Tremolizzo, L, Ferrarese, C, Appollonio, I, ALBERTI, PAOLA, TREMOLIZZO, LUCIO, FERRARESE, CARLO, and APPOLLONIO, ILDEBRANDO

Published
2009

31. An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

Author

Tremolizzo, L, Galbussera, A, Tagliabue, E, Fermi, S, Bruttini, M, Lamperti, C, Moggio, M, Appollonio, I, Ferrarese, C, TREMOLIZZO, LUCIO, APPOLLONIO, ILDEBRANDO, FERRARESE, CARLO, Tremolizzo, L, Galbussera, A, Tagliabue, E, Fermi, S, Bruttini, M, Lamperti, C, Moggio, M, Appollonio, I, Ferrarese, C, TREMOLIZZO, LUCIO, APPOLLONIO, ILDEBRANDO, and FERRARESE, CARLO

Abstract

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.

Published
2007

32. Prevalence of Sleep Disturbances in Mild Cognitive Impairment and Dementing Disorders: A Multicenter Italian Clinical Cross-Sectional Study on 431 Patients

Author

Guarnieri, B., primary, Adorni, F., additional, Musicco, M., additional, Appollonio, I., additional, Bonanni, E., additional, Caffarra, P., additional, Caltagirone, C., additional, Cerroni, G., additional, Concari, L., additional, Cosentino, F.I.I., additional, Ferrara, S., additional, Fermi, S., additional, Ferri, R., additional, Gelosa, G., additional, Lombardi, G., additional, Mazzei, D., additional, Mearelli, S., additional, Morrone, E., additional, Murri, L., additional, Nobili, F.M., additional, Passero, S., additional, Perri, R., additional, Rocchi, R., additional, Sucapane, P., additional, Tognoni, G., additional, Zabberoni, S., additional, and Sorbi, S., additional

Published
2012
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33. Noninvasive glucose monitoring: comprehensive clinical results. Cygnus Research Team.

Author

Tamada JA, Garg S, Jovanovic L, Pitzer KR, Fermi S, Potts RO, Tamada, J A, Garg, S, Jovanovic, L, Pitzer, K R, Fermi, S, and Potts, R O

Abstract

Context: Intensive diabetes management using frequent blood glucose measurements to guide therapy has been shown to significantly improve short- and long-term outcomes. Development of a device that makes possible frequent, automatic, painless, and accurate measurements of glucose would facilitate intensive management.Objective: To determine the accuracy of the GlucoWatch automatic glucose biographer (Cygnus Inc) compared with that of serial blood glucose measurements.Design: Multicenter comparative study of the GlucoWatch biographer and the HemoCue blood glucose analyzer (Aktiebolaget Leo) performed between August 29 and October 17, 1998. Participants wore up to 2 biographers during the 15-hour study session and performed 2 fingersticks per hour for comparative blood glucose measurements. The biographers were calibrated with a single HemoCue measurement after a 3-hour warm-up period. Diet and insulin were manipulated to produce a broad glycemic range during the study.Setting: Controlled clinical environment at 2 diabetes centers and 3 contract research organizations in the United States.Participants: A total of 92 subjects (mean [SD] age, 42.1 [15.1] years; 59.8% women) with type 1 or 2 diabetes requiring treatment with insulin.Main Outcome Measures: Mean error, mean absolute error, correlation, slope, and intercept using Deming regression, and clinical significance of differences between biographer readings and blood glucose measurements using the Clarke error grid.Results: Results showed close tracking of blood glucose over a range of 2.2 to 22.2 mmol/L (40-400 mg/dL) for up to 12 hours using a single point calibration. The biographer readings lagged behind serial blood glucose values by a mean of 18 minutes. An analysis of 2167 data pairs shows a linear relationship (r = 0.88; slope = 1.03; intercept = -0.33 mmol/L [-6 mg/dL]) between biographer readings and serial glucose measurements. The mean absolute error between the 2 measurements was 15.6% (mean error [SD], -0.07 [1.82] mmol/L [-1 [33] mg/dL]), and 96.8% of the data fell in the therapeutically relevant regions of the error grid analysis.Conclusion: These results demonstrate close agreement between GlucoWatch biographer readings and blood glucose measurements using repeated fingerstick blood samples. The automatic, frequent, and noninvasive measurements obtained with the biographer provides more information about glucose levels than the current standard of care. [ABSTRACT FROM AUTHOR]

Published
1999
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36. Association analysis of PARP1 polymorphisms with Parkinson's disease.

Author

Brighina L, Riva C, Bertola F, Fermi S, Saracchi E, Piolti R, Goldwurm S, Pezzoli G, Ferrarese C, Brighina, Laura, Riva, Chiara, Bertola, Francesca, Fermi, Silvia, Saracchi, Enrico, Piolti, Roberto, Goldwurm, Stefano, Pezzoli, Gianni, and Ferrarese, Carlo

Abstract

Alpha-synuclein accumulation in intracellular inclusions, oxidative stress and microglia-mediated inflammation in the substantia nigra are crucial events in the pathogenesis of Parkinson's disease (PD). Poly (ADP-ribose) polymerase-1 (PARP1), a DNA-binding enzyme and transcriptional regulator, plays an important role in modulating the cellular response to oxidative stress, inflammatory stimuli, and in apoptotic cell death. Inhibition of PARP1 results in significant neuroprotection in PD animal models; moreover PARP1 has a physiological role in the regulation of alpha-synuclein expression. A previous study had demonstrated that variants located within the PARP1 gene promoter reduce the risk of PD and delay the disease age at onset. In light of these data, we carried out an association study to investigate whether variability within this gene is associated with PD risk and disease age at onset in an Italian cohort composed of 600 PD patients and 592 healthy controls. To this purpose, we used a comprehensive tag SNP approach spanning the entire gene and the upstream and downstream regions. We did not detect any significant association of the PARP1 gene with PD either at genotypic or haplotypic level; none of the 11 genotyped SNPs was significantly associated with PD age at onset. We conclude that, despite previous evidence, PARP1 is not a susceptibility gene for PD in our population. [ABSTRACT FROM AUTHOR]

Published
2011
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37. Recommendations of the Sleep Study Group of the Italian Dementia Research Association (SINDem) on clinical assessment and management of sleep disorders in individuals with mild cognitive impairment and dementia: a clinical review

Author

Antonella Bartoli, Enrica Bonanni, Roberta Perri, Fulvio Adorni, L. Concari, Ubaldo Bonuccelli, Massimo Musicco, G Cerroni, Carlo Caltagirone, Patrizia Sucapane, Biancamaria Guarnieri, Stefano Passero, Sandro Sorbi, Gemma Lombardi, Paolo Caffarra, S. Mearelli, Flavio Nobili, Silvia Zabberoni, Giorgio Gelosa, Dario Arnaldi, S Fermi, Fi Cosentino, Raffaele Rocchi, Raffaele Ferri, Gloria Tognoni, Ildebrando Appollonio, Guarnieri, B, Musicco, M, Caffarra, P, Adorni, F, Appollonio, I, Arnaldi, D, Bartoli, A, Bonanni, E, Bonuccelli, U, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mearelli, S, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, and Sorbi, S

Subjects
Sleep Wake Disorders, medicine.medical_specialty, Neurology, MEDLINE, Dermatology, Outcome Assessment, Health Care, medicine, Humans, Dementia, Cognitive Dysfunction, Sleep study, Cognitive decline, Psychiatry, MED/26 - NEUROLOGIA, business.industry, General Medicine, medicine.disease, Psychiatry and Mental health, Systematic review, Italy, Meta-analysis, Sleep, dementia, mild cognitive impairment, AD, MCI, Alzheimer's disease, recommendations, guidelines, Sindem, Settore MED/26 - Neurologia, Neurology (clinical), Neurosurgery, business, Clinical psychology
Abstract

Clinical assessment and management of sleep disturbances in patients with mild cognitive impairment and dementia has important clinical and social implications. Poor sleep results in an increased risk of morbidities and mortality in demented patients and is a source of stress for caregivers. Sleep disturbances show high prevalence in mild cognitive impairment and dementia patients and they are often associated one to another in the same patient. A careful clinical evaluation of sleep disorders should be performed routinely in the clinical setting of individuals with cognitive decline. The Sleep Study Group of the Italian Dementia Research Association (SINDem) reviewed evidence from original research articles, meta-analyses and systematic reviews published up to December 2013. The evidence was classified in quality levels (I, II, III) and strength of recommendations (A, B, C, D, E). Where there was a lack of evidence, but clear consensus, good practice points were provided. These recommendations may not be appropriate for all circumstances and should therefore be adopted only after a patient's individual characteristics have been carefully evaluated.

Published
2014

38. Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease

Author

Enrico Saracchi, Laura Melchionda, Chiara Riva, Gessica Sala, Laura Brighina, G Stefanoni, A Arosio, Silvia Fermi, Carlo Ferrarese, Sala, G, Stefanoni, G, Arosio, A, Riva, C, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, and Ferrarese, C

Subjects
Male, Parkinson's disease, Chaperone-mediated autophagy, Cell Survival, Biology, Peripheral blood mononuclear cell, Blood cell, Hsc70, Western blot, Lysosomal-Associated Membrane Protein 2, Gene expression, medicine, Autophagy, Humans, MEF2D, Molecular Biology, Aged, Lamp2a, medicine.diagnostic_test, MEF2 Transcription Factors, General Neuroscience, HSC70 Heat-Shock Proteins, Parkinson Disease, Middle Aged, medicine.disease, medicine.anatomical_structure, Immunology, Leukocytes, Mononuclear, Biomarker (medicine), Female, Neurology (clinical), Developmental Biology
Abstract

Chaperone-mediated autophagy (CMA) impairment is recognized to play a pathogenetic role in Parkinson's disease (PD). A reduced expression of lysosomal-associated membrane protein (lamp) 2A and heat shock cognate (hsc) 70 protein, the two key regulators of CMA, has been reported in brains of PD patients. To verify the existence of a possible systemic CMA dysfunction in PD, in this study the expression of hsc70 and lamp2A was assessed in peripheral blood mononuclear cells (PBMC) of patients with sporadic PD and compared to healthy subjects. The expression of myocyte enhancer factor 2D (MEF2D), a transcriptional factor implicated in neuronal survival and specific substrate of CMA, was also evaluated. Protein and gene expression was assessed by Western blot and real-time PCR, respectively, in PBMC obtained from 53 sporadic PD patients and 53 healthy subjects. A significant reduction of hsc70 levels was observed in PBMC of PD patients, both under basal conditions and after autophagy induction obtained with serum deprivation. No difference emerged in lamp2A and MEF2D expression between patients and controls. No influence of the clinical characteristics of patients emerged on hsc70, lamp2A and MEF2D expression. These results, despite being not suggestive of the existence of a CMA impairment in PBMC of PD patients, identify a systemic hsc70 reduction in PD patients. Further studies on specific mechanisms and biological significance of such alteration are needed to corroborate this finding that could lead to the identification of a new trait biomarker for PD.

Published
2013

39. Analysis of vesicular monoamine transporter 2 polymorphisms in Parkinson's disease

Author

Enrico Saracchi, Stefano Goldwurm, Silvia Fermi, Chiara Riva, Carlo Ferrarese, Laura Brighina, Francesca Bertola, Brighina, L, Riva, C, Bertola, F, Saracchi, E, Fermi, S, Goldwurm, S, and Ferrarese, C

Subjects
Adult, Male, Aging, medicine.medical_specialty, Parkinson's disease, Vesicular Monoamine Transport Proteins, Neuroscience(all), Clinical Neurology, SNP, Single-nucleotide polymorphism, Genetic Reports Abstract, Vesicular monoamine transporter 2, Polymorphism, Single Nucleotide, Cohort Studies, Association, Dopamine, Internal medicine, Genetic model, medicine, Humans, Parkinson's disease, VMAT2, Aged, Aged, 80 and over, Genetics, biology, General Neuroscience, Dopaminergic, Parkinson Disease, Middle Aged, medicine.disease, Vesicular monoamine transporter, Ageing, Endocrinology, biology.protein, Parkinson’s disease, Female, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, medicine.drug
Abstract

Generation of reactive oxygen species during dopamine (DA) oxidation could be one of the factors leading to the selective loss of nigral dopaminergic neurons in Parkinson’s disease (PD). Vesicular monoamine transporter type 2 (VMAT2) proteins in nerve terminals uptake dopamine into synaptic vesicles, preventing its cytoplasmic accumulation and toxic damage to nigral neurons. Polymorphisms in VMAT2 gene and in its regulatory regions might therefore serve as genetic risk factors for PD. In the present study, we have analyzed 8 single-nucleotide polymorphisms (SNPs) located within/around the VMAT2 gene for association with PD in an Italian cohort composed of 704 PD patients and 678 healthy controls. Among the 8 SNPs studied, only the 2 located within the promoter region (rs363371 and rs363324) were significantly associated with PD. In the dominant model, odds ratios were 0.72 (95% confidence interval [CI]: 0.6–0.9, p < 0.005) for rs363371 and 0.76 (95% CI: 0.6–0.9, p = 0.01) for rs363324; in the additive model, odds ratios were 0.78 (95% CI: 0.65–0.94, p = 0.008) for rs363371 and 0.85 (95% CI: 0.7–20.92, p = 0.04) for rs363324. There were no significant relationships between the remaining SNPs (rs363333, rs363399, rs363387, rs363343, rs4752045, and rs363236) and the risk of sporadic PD in any genetic model. This study adds to the previous evidence suggesting that variability in VMAT2 promoter region may confer a reduced risk of developing PD, presumably via mechanisms of gene overexpression.

Published
2013

40. Study of alpha-synuclein and its catabolic pathways in lymphomonocytes of patients with Parkinson's disease

Author

SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, RIVA, CHIARA, MARINIG, DANIELE, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Sala, G, Stefanoni, G, Arosio, A, Riva, C, Marinig, D, Saracchi, E, Fermi, S, Brighina, L, and Ferrarese, C

Subjects
alpha-synuclein, chaperone-mediated autophagy (CMA), MEF2D, LAMP2A, hsc70, peripheral blood mononuclear cells (PBMC), Parkinson's disease (PD)
Published
2013

41. Prevalence of Sleep Disturbances in Mild Cognitive Impairment and Dementing Disorders: A Multicenter Italian Clinical Cross-Sectional Study on 431 Patients

Author

Flavio Nobili, Giorgio Gelosa, G Cerroni, S. Mearelli, Massimo Musicco, Biancamaria Guarnieri, Raffaele Ferri, Carlo Caltagirone, S. Ferrara, Stefano Passero, Enrica Bonanni, Luigi Murri, Roberta Perri, Filomena I.I. Cosentino, Gemma Lombardi, Gloria Tognoni, Raffaele Rocchi, P. Sucapane, Paolo Caffarra, S. Fermi, Silvia Zabberoni, Sandro Sorbi, Elisa Morrone, L. Concari, Fulvio Adorni, Debora Mazzei, Ildebrando Appollonio, Guarnieri, B, Adorni, F, Musicco, M, Appollonio, I, Bonanni, E, Caffarra, P, Caltagirone, C, Cerroni, G, Concari, L, Cosentino, F, Ferrara, S, Fermi, S, Ferri, R, Gelosa, G, Lombardi, G, Mazzei, D, Mearelli, S, Morrone, E, Murri, L, Nobili, F, Passero, S, Perri, R, Rocchi, R, Sucapane, P, Tognoni, G, Zabberoni, S, and Sorbi, S

Subjects
Male, Cross-sectional study, Excessive daytime sleepiness, Polysomnography, Neuropsychological Tests, Vascular dementia, Cohort Studies, Sleep Initiation and Maintenance Disorders, Insomnia, Original Research Article, Cognitive decline, medicine.diagnostic_test, Depression, Sleep disorders, Alzheimer's disease, humanities, Diagnostic and Statistical Manual of Mental Disorders, Italy, Psychiatry and Mental Health, Educational Status, Settore MED/26 - Neurologia, Female, medicine.symptom, Lewy body dementia, Psychology, Frontotemporal dementia, Sleep Wake Disorders, medicine.medical_specialty, Cognitive Neuroscience, Mild cognitive impairment, Parkinson's disease dementia, Geriatrics and Gerontology, Sleep Apnea Syndromes, mental disorders, medicine, Dementia, Humans, Cognitive Dysfunction, Psychiatry, alzheimer's disease, dementia, sleep disturbances, mild cognitive impairment, Aged, MED/26 - NEUROLOGIA, social sciences, medicine.disease, Cross-Sectional Studies
Abstract

Background/Aims: Sleep disturbances are common in the elderly and in persons with cognitive decline. The aim of this study was to describe frequency and characteristics of insomnia, excessive daytime sleepiness, sleep-disordered breathing, REM behavior disorder and restless legs syndrome in a large cohort of persons with mild cognitive impairment or dementia. Methods: 431 consecutive patients were enrolled in 10 Italian neurological centers: 204 had Alzheimer’s disease, 138 mild cognitive impairment, 43 vascular dementia, 25 frontotemporal dementia and 21 Lewy body dementia or Parkinson’s disease dementia. Sleep disorders were investigated with a battery of standardized questions and questionnaires. Results: Over 60% of persons had one or more sleep disturbances almost invariably associated one to another without any evident and specific pattern of co-occurrence. Persons with Alzheimer’s disease and those with mild cognitive impairment had the same frequency of any sleep disorder. Sleep-disordered breathing was more frequent in vascular dementia. REM behavior disorder was more represented in Lewy body or Parkinson’s disease dementia. Conclusion: A careful clinical evaluation of sleep disorders should be performed routinely in the clinical setting of persons with cognitive decline. Instrumental supports should be used only in selected patients.

Published
2012

42. Chaperone mediated autophagy in Parkinson's disease: Study in peripheral blood cells from patients and in a cellular model

Author

STEFANONI, GIOVANNI, SALA, GESSICA, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Stefanoni, G, Sala, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, and Ferrarese, C

Subjects
Chaperone-mediated autophagy, Hsc70, Lamp2a, MEF2D, Parkinson's disease, Peripheral blood mononuclear cell
Published
2011

43. Assessment of chaperone-mediated autophagy in circulating lymphomonocytes of patients with Parkinson disease

Author

SALA, GESSICA, STEFANONI, GIOVANNI, AROSIO, ALESSANDRO, MELCHIONDA, LAURA, SARACCHI, ENRICO, FERMI, SILVIA, BRIGHINA, LAURA, FERRARESE, CARLO, Sala, G, Stefanoni, G, Arosio, A, Melchionda, L, Saracchi, E, Fermi, S, Brighina, L, and Ferrarese, C

Subjects
chaperone-mediated autophagy (CMA), alpha-synuclein, MEF2D, LAMP2A, hsc70, peripheral blood mononuclear cells (PBMC), Parkinson disease (PD)
Published
2011

44. Generalized action myoclonus associated with escitalopram in a patient with mixed dementia

Author

E Susani, Maura Frigo, R. Piolti, Silvia Fermi, Carlo Ferrarese, Maria Letizia Fusco, Ildebrando Appollonio, Lucio Tremolizzo, Tremolizzo, L, Fermi, S, Fusco, M, Susani, E, Frigo, M, Piolti, R, Ferrarese, C, and Appollonio, I

Subjects
MED/26 - NEUROLOGIA, medicine.medical_specialty, Psychotherapist, demenza, mioclonie, escitalopram, MEDLINE, Action myoclonus, Psychiatry and Mental health, Mixed dementia, medicine, Escitalopram, Pharmacology (medical), Psychiatry, Psychology, BIO/14 - FARMACOLOGIA, medicine.drug
Published
2011

45. Infezioni del sistema nervoso centrale

Author

FUSCO, MARIA LETIZIA, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, and Fusco, M

Subjects
MED/26 - NEUROLOGIA, MED/17 - MALATTIE INFETTIVE, Neurologia, infettivologia, infezioni del sistema nervoso
Published
2011

46. Fisiopatologia e semeiologia della sensibilità

Author

FERMI, SILVIA, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, and Feferico, A

Subjects
MED/26 - NEUROLOGIA, Neurologia, semeiotica neurologica, sensibilità somatiche
Published
2011

47. Complicanze neurologiche di malattie internistiche

Author

DI FRANCESCO, JACOPO COSIMO, APPOLLONIO, ILDEBRANDO, Ferrarese, C, Appollonio, I, Cavaletti, G, Sganzerla, EP, Cortelli, P, Federico, A, Marciani, MG, Beretta, S, Brighina, L, Brioschi, M, Bogliun, G, DiFrancesco, JC, Fermi, S, Frigeni, B, Fusco, ML, Fumagalli, L, Gelosa, G, Giussani, C, Grimaldi, M, Guerra, P, Isella, V, Lucarini, C, Palmeri, S, Pappadà, GB, Piolti, R, Placidi, F, Pretegiani, E, Romigi, A, Santoro, P, Saracchi, E, Susani, E, Tremolizzo, L, Vimercati, A, Feferico, A, and DI FRANCESCO, J

Subjects
MED/26 - NEUROLOGIA, neurologia, medicina interna, complicanze neurologiche, MED/09 - MEDICINA INTERNA
Published
2011

48. Vesicular monoamine transporter 2 mRNA levels are reduced in platelets from patients with Parkinson's disease

Author

Silvia Fermi, Carlo Ferrarese, Veronica Carrozza, Marta Pirovano, Gessica Sala, Chiara Riva, Enrico Saracchi, Laura Brighina, Sala, G, Brighina, L, Saracchi, E, Fermi, S, Riva, C, Carrozza, V, Pirovano, M, and Ferrarese, C

Subjects
Blood Platelets, Male, medicine.medical_specialty, Parkinson's disease, Genotype, Blotting, Western, Vesicular monoamine transporter 2, medicine.disease_cause, Neuroprotection, Dopamine, Internal medicine, Vesicular Monoamine Transport Protein, medicine, Humans, Platelet, RNA, Messenger, Biological Psychiatry, Aged, Analysis of Variance, biology, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, medicine.disease, Blot, Psychiatry and Mental health, Endocrinology, Neurology, Vesicular Monoamine Transport Proteins, Immunology, biology.protein, Blood Platelet, Biomarker (medicine), Female, Neurology (clinical), Oxidative stress, Human, medicine.drug
Abstract

Despite advances in neuroimaging, the diagnosis of idiopathic Parkinson's disease (PD) remains clinical. The identification of biological markers for an early diagnosis is of great interest to start a neuroprotective therapy aimed at slowing, blocking or reversing the disease progression. Vesicular monoamine transporter 2 (VMAT2) sequesters cytoplasmic dopamine into synaptic vesicles for storage and release. Thus, VMAT2 impairment can regulate intra- and extracellular dopamine levels, influencing oxidative stress and neuronal death. Because in vivo imaging studies have demonstrated a VMAT2 reduction in PD patients greater than would be explained by neuronal loss alone, as an exploratory study we assessed VMAT2 mRNA and protein levels in platelets from 39 PD patients, 39 healthy subjects and 10 patients with vascular parkinsonism (VP) to identify a possible peripheral biomarker for PD. A significant reduction (p < 0.05) of VMAT2 mRNA levels was demonstrated in PD patients versus healthy controls. Patients with VP showed VMAT2 mRNA levels similar to controls. No difference in VMAT2 mRNA levels was found in untreated versus treated patients. No correlation was observed between mRNA levels and demographic or clinical characteristics. Furthermore, eight SNPs tagging the VMAT2 gene did not show effects on VMAT2 mRNA levels. Western blot analysis did not allow the quantification of VMAT2 protein expression in blood platelets. Although further studies in a greater number of cases are needed to confirm our data, the reduction in VMAT2 mRNA in platelets from PD patients suggests the existence of a systemic impairment of this transporter possibly contributing to PD pathology.

Published
2010

49. An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

Author

Carlo Ferrarese, E. Tagliabue, S. Fermi, Costanza Lamperti, M. Moggio, Lucio Tremolizzo, N. A. Curtò, Ildebrando Appollonio, A. Galbussera, M. Bruttini, Tremolizzo, L, Galbussera, A, Tagliabue, E, Fermi, S, Bruttini, M, Lamperti, C, Moggio, M, Appollonio, I, and Ferrarese, C

Subjects
Pathology, medicine.medical_specialty, Neurology, DNA Mutational Analysis, Dermatology, oculopharyngeal muscular dystrophy, Poly(A)-Binding Protein II, Oculopharyngeal muscular dystrophy, Muscular Dystrophy, Oculopharyngeal, medicine, Humans, Family history, Clinical phenotype, Muscle, Skeletal, Neuroradiology, Aged, MED/26 - NEUROLOGIA, Genetics, business.industry, PABPN1, De novo mutation, General Medicine, medicine.disease, de novo mutation, Psychiatry and Mental health, Italy, sporadic, Female, Neurology (clinical), Neurosurgery, Differential diagnosis, business
Abstract

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.

Published
2007

50. Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease.

Author

Sala G, Stefanoni G, Arosio A, Riva C, Melchionda L, Saracchi E, Fermi S, Brighina L, and Ferrarese C

Subjects
Aged, Cell Survival, Female, HSC70 Heat-Shock Proteins blood, Humans, Lysosomal-Associated Membrane Protein 2 blood, Lysosomal-Associated Membrane Protein 2 metabolism, MEF2 Transcription Factors blood, MEF2 Transcription Factors metabolism, Male, Middle Aged, Parkinson Disease blood, Autophagy physiology, HSC70 Heat-Shock Proteins metabolism, Leukocytes, Mononuclear metabolism, Parkinson Disease metabolism
Abstract

Chaperone-mediated autophagy (CMA) impairment is recognized to play a pathogenetic role in Parkinson's disease (PD). A reduced expression of lysosomal-associated membrane protein (lamp) 2A and heat shock cognate (hsc) 70 protein, the two key regulators of CMA, has been reported in brains of PD patients. To verify the existence of a possible systemic CMA dysfunction in PD, in this study the expression of hsc70 and lamp2A was assessed in peripheral blood mononuclear cells (PBMC) of patients with sporadic PD and compared to healthy subjects. The expression of myocyte enhancer factor 2D (MEF2D), a transcriptional factor implicated in neuronal survival and specific substrate of CMA, was also evaluated. Protein and gene expression was assessed by Western blot and real-time PCR, respectively, in PBMC obtained from 53 sporadic PD patients and 53 healthy subjects. A significant reduction of hsc70 levels was observed in PBMC of PD patients, both under basal conditions and after autophagy induction obtained with serum deprivation. No difference emerged in lamp2A and MEF2D expression between patients and controls. No influence of the clinical characteristics of patients emerged on hsc70, lamp2A and MEF2D expression. These results, despite being not suggestive of the existence of a CMA impairment in PBMC of PD patients, identify a systemic hsc70 reduction in PD patients. Further studies on specific mechanisms and biological significance of such alteration are needed to corroborate this finding that could lead to the identification of a new trait biomarker for PD., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Published
2014
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