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1. Impact of Supporting People with Advanced Parkinson’s Disease on Carer’s Quality of Life and Burden

Author

Modugno N, Antonini A, Tessitore A, Marano P, Pontieri FE, Tambasco N, Canesi M, Fabbrini G, Sensi M, Quatrale R, Solla P, Defazio G, Melzi G, Gualberti G, and Lopiano L

Subjects
advanced parkinson’s disease, levodopa/carbidopa, intestinal infusion, caregiver burden, quality of life, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Nicola Modugno,1 Angelo Antonini,2 Alessandro Tessitore,3 Pietro Marano,4 Francesco Ernesto Pontieri,5,6 Nicola Tambasco,7 Margherita Canesi,8,9 Giovanni Fabbrini,10,11 Mariachiara Sensi,12 Rocco Quatrale,13 Paolo Solla,14 Giovanni Defazio,14 Gabriella Melzi,15 Giuliana Gualberti,15 Leonardo Lopiano16 1Neurology Unit, IRCCS Neuromed, Pozzilli, Italy; 2Parkinson and Movement Disorder Unit, Department of Neuroscience, University of Padua, Padua, Italy; 3Department of Medical and Surgery Sciences, University of Campania, “Luigi Vanvitelli”, Naples, Italy; 4Casa di Cura Madonna del Rosario, Raggruppamento di Riabilitazione, Catania, Italy; 5Department NESMOS, “Sapienza” University, Sant’Andrea Hospital, Roma, Italy; 6IRCCS Fondazione Santa Lucia, Roma, Italy; 7Department of Neurology, Perugia General Hospital and University of Perugia, Perugia, Italy; 8Dipartimento di Riabilitazione Malattia di Parkinson e Disordini del Movimento, Gravi Cerebrolesioni Acquisite, Italia Hospital - Ospedale “Moriggia-Pelascini”, Gravedona ed Uniti, Como, Italy; 9Centro Parkinson e Disordini del Movimento, CTO, G Pini, Milano, Italy; 10Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy; 11IRCCS Neuromed, Pozzilli, Isernia, Italy; 12Neurology Unit, Hospital Sant’Anna, Ferrara, Italy; 13Neurology Unit, Hospital dell’Angelo, Mestre, VE, Italy; 14Neurology Unit, Policlinico Universitario Monserrato, Cagliari, Italy; 15Medical Department, AbbVie Srl, Roma, Italy; 16Department of Neuroscience “Rita Levi Montalcini” University of Torino, Azienda Ospedaliero-Universitaria Città Della Salute e Della Scienza di Torino, Torino, ItalyCorrespondence: Gabriella MelziAbbVie Srl, Viale dell’Arte 25, Roma 00144, ItalyTel +39 06928924346Email gabriella.melzi@abbvie.comPurpose: The aim of this study was to assess the burden and the quality of life (QoL) perceived by caregivers assisting advanced Parkinson’s disease (PD) patients.Patients and Methods: Consecutive advanced PD patients treated with levodopa/carbidopa intestinal gel (LCIG) or continuous subcutaneous apomorphine infusion (CSAI) or care as usual (CU) and their care partners were recruited during routine visits according to a cross-sectional design. Caregiver’s distress was assessed by Zarit Burden Interview (ZBI) and a QoL survey to evaluate and understand the burden experienced by care partners during family and working activities.Results: A total of 126 patients (53 LCIG, 19 CSAI and 54 CU) and their care partners were enrolled. The ZBI score boxplot showed that LCIG and CU populations have a similar distribution (ZBI inter-quartile range [IQR] values respectively 18– 42 for LCIG and 19– 43 for CU group), while the CSAI group has a wider score range (IQR 16– 52). Caregivers assisting patients in treatment with LCIG have more time to perform family or household duties (p=0.0022), or to engage in leisure activities (p=0.0073) compared to CU, while no difference was found when compared to CSAI group. Approximately 50% of the care partners showed mood changes in the last 6 months and LCIG and CSAI had less impact on caregiver’s mood compared to CU. Patients treated with LCIG were more independent in taking a bath or shower without assistance and were more able to move and walk without assistance.Conclusion: Care partners of advanced PD patients treated with device-aided therapies have more time for their own life and a better perception of their QoL with a tendency to an improvement of mood compared with those of patients treated with CU.Keywords: advanced Parkinson’s disease, levodopa/carbidopa, intestinal infusion, caregiver burden, quality of life; QoL

Published
2020

2. A Hematopoietic Stem Cell Transplantation Startup in Iraqi Kurdistan: Results in Thalassemia Patients and Analysis of the Methodology

Author

Verna, M, Canesi, M, Conter, V, Faulkner, L, Rovelli, A, Silvestri, D, Majolino, I, Biondi, A, Nawfal Abdullah, C, Faeq Mohammed, V, Verna, Marta, Canesi, Marta, Conter, Valentino, Faulkner, Lawrence, Rovelli, Attilio Maria, Silvestri, Daniela, Majolino, Ignazio, Biondi, Andrea, Nawfal Abdullah, Chra, Faeq Mohammed, Vian, Verna, M, Canesi, M, Conter, V, Faulkner, L, Rovelli, A, Silvestri, D, Majolino, I, Biondi, A, Nawfal Abdullah, C, Faeq Mohammed, V, Verna, Marta, Canesi, Marta, Conter, Valentino, Faulkner, Lawrence, Rovelli, Attilio Maria, Silvestri, Daniela, Majolino, Ignazio, Biondi, Andrea, Nawfal Abdullah, Chra, and Faeq Mohammed, Vian

Abstract

In hemoglobinopathy-prone regions, like the Middle East, thalassemia is the most prevalent noncommunicable life-threatening disorder of children and is highly curable by hematopoietic stem cell transplantation (HSCT). Moreover, transplantation is very cost-effective, and HSCT programs can be established directly in middle-income countries (MICs) at a reduced cost while maintaining quality standards and outcomes consistent with international ones. The aim of the present study was to review and verify the efficacy of the applied methodology through the analysis of 47 consecutive matched-related HSCTs in children with thalassemia. In 2016, the first HSCT unit for adults and children with both malignant and nonmalignant diseases was developed in Iraqi Kurdistan, thanks to a capacity building project funded by the Italian Agency for Development Cooperation. Data on clinical activity were obtained from a cohort of patients treated in the newly established HSCT unit. Primary endpoints were overall survival (OS) and thalassemia-free survival (TFS). Startup of the HSCT unit was completed over a 3-year period. Assessing and meeting minimum requirements were crucial for the startup; moreover, a team of international health care professionals (HCPs), all experts in the field of HSCT, conducted the education and training phase, involving all the clinical and nonclinical professionals in the program. At a median follow-up of 2.6 years, the 3-year TFS and OS were 82.8% (SE, 5.5%) and 87.1% (SE, 4.9%), respectively. TFS and graft-versus-host-disease-free composite survival was 80.6% (SE, 5.8%). At present, the HSCT service is completely autonomous, and more than 250 transplants have been done in both adults and children. The minimal essential requirements for an HSCT startup may be affordable in many MICs. Our results for thalassemia are comparable with international data. A twinning program with an international group of experts and a capacity-building approach is crucial for the

Published
2023

3. Self-Care of Adults with Type 2 Diabetes During the COVID-19 Pandemic: A Qualitative Interpretive Description Study

Author

Luciani, M, Bigoni, C, Canesi, M, Masotto, M, Fabrizi, D, Di Mauro, S, Ausili, D, Luciani, Michela, Bigoni, Camilla, Canesi, Marta, Masotto, Matteo, Fabrizi, Diletta, Di Mauro, Stefania, Ausili, Davide, Luciani, M, Bigoni, C, Canesi, M, Masotto, M, Fabrizi, D, Di Mauro, S, Ausili, D, Luciani, Michela, Bigoni, Camilla, Canesi, Marta, Masotto, Matteo, Fabrizi, Diletta, Di Mauro, Stefania, and Ausili, Davide

Abstract

Due to coronavirus disease 2019 (COVID-19), diabetes services have been disrupted, causing difficulties for people with type 2 diabetes mellitus (T2DM), and understanding their experience could help improve diabetes care. Therefore, we used a qualitative interpretive description to explore the experience of self-care of adults with T2DM during the COVID-19 pandemic. Data were collected using semi-structured interviews and analyzed theoretically. The sample (N = 30) was composed of 7 females and 23 males, with a mean age of 69.9 years (60–77) and 19.4 mean years (3–40) of people living with T2DM. Our findings show reduced physical activity and increased smoking and alcohol consumption affected that self-care. Increased food consumption and stress eating, with greater stress and anxiety, caused worsening of glycemic values. Participants were able to contact healthcare professionals via eHealth or telephone. Others, even those with complications, were not able to receive care or advice. These results suggest that easier contact with health providers, continuous engagement, eHealth solutions, and formal peer support could help self-care in T2DM. Advanced nursing roles and services could solve many issues reported in this study during and after the pandemic.

Published
2023

4. Mechanical Stimulation and Cardiovascular Control in Parkinson Disease

Author

Bassani, T., Bari, V., Marchi, A., Tassin, S., Dalla Vecchia, L., Canesi, M., Barbic, F., Furlan, R., Porta, A., Magjarevic, Ratko, Editor-in-chief, Ładyzynsk, Piotr, Series editor, Ibrahim, Fatimah, Series editor, Lacković, Igor, Series editor, Rock, Emilio Sacristan, Series editor, and Roa Romero, Laura M., editor

Published
2014
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5. 54 years of microboring community history explored by machine learning in a massive coral from Mayotte (Indian Ocean)

Author

Alaguarda, Diego, Brajard, Julien, Coulibaly, G., Canesi, M., Douville, E., Le Cornec, Florence, Lelabousse, C., Tribollet, Aline, Cycles biogéochimiques marins : processus et perturbations (CYBIOM), Laboratoire d'Océanographie et du Climat : Expérimentations et Approches Numériques (LOCEAN), Muséum national d'Histoire naturelle (MNHN)-Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut Pierre-Simon-Laplace (IPSL (FR_636)), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-École polytechnique (X)-Centre National d'Études Spatiales [Toulouse] (CNES)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-École polytechnique (X)-Centre National d'Études Spatiales [Toulouse] (CNES)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Muséum national d'Histoire naturelle (MNHN)-Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut Pierre-Simon-Laplace (IPSL (FR_636)), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-École polytechnique (X)-Centre National d'Études Spatiales [Toulouse] (CNES)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Nansen Environmental and Remote Sensing Center [Bergen] (NERSC), Laboratoire des Sciences du Climat et de l'Environnement [Gif-sur-Yvette] (LSCE), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Géochrononologie Traceurs Archéométrie (GEOTRAC), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), and Variabilité à long terme du climat de l'océan (VALCO)

Subjects
[SDU.OCEAN]Sciences of the Universe [physics]/Ocean, Atmosphere, Global and Planetary Change, euendolith traces, Mayotte, microborers abundance, Ocean Engineering, coral growth, Aquatic Science, Oceanography, assemblage shift, machine learning, green bands, [SDU.ENVI]Sciences of the Universe [physics]/Continental interfaces, environment, coral growth microborers abundance euendolith traces assemblage shift green bands Mayotte machine learning global change, global change, Water Science and Technology
Abstract

International audience; Coral reefs are increasingly in jeopardy due to global changes affecting both reef accretion and bioerosion processes. Bioerosion processes dynamics in dead reef carbonates under various environmental conditions are relatively well understood but only over a short-term limiting projections of coral reef evolution by 2100. It is thus essential to monitor and understand bioerosion processes over the long term. Here we studied the assemblage of traces of microborers in a coral core of a massive Diploastrea sp. from Mayotte, allowing us to explore the variability of its specific composition, distribution, and abundance between 1964 and 2018. Observations of microborer traces were realized under a scanning electron microscope (SEM). The area of coral skeleton sections colonized by microborers (a proxy of their abundance) was estimated based on an innovative machine learning approach. This new method with 93% accuracy allowed analyzing rapidly more than a thousand SEM images. Our results showed an important shift in the trace assemblage composition that occurred in 1985, and a loss of 90% of microborer traces over the last five decades. Our data also showed a strong positive correlation between microborer trace abundance and the coral bulk density, this latter being particularly affected by the interannual variation of temperature and cumulative insolation. Although various combined environmental factors certainly had direct and/or indirect effects on microboring species before and after the breakpoint in 1985, we suggest that rising sea surface temperature, rainfall, and the loss of light over time were the main factors driving the observed trace assemblage change and decline in microborer abundance. In addition, the interannual variability of sea surface temperature and instantaneous maximum wind speed appeared to influence greatly the occurrence of green bands. We thus stress the importance to study more coral cores to confirm the decadal trends observed in the Diploastrea sp. from Mayotte and to better identify the main factors influencing microboring Frontiers in Marine Science frontiersin.org 01

Published
2022
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6. Posterior reversible encephalopathy syndrome and COVID-19: A series of 6 cases from Lombardy, Italy

Author

Colombo, A, Martinelli Boneschi, F, Beretta, S, Bresolin, N, Versino, M, Lorusso, L, Spagnoli, D, Nastasi, G, Vallauri, D, Rota, S, Repaci, M, Ferrarini, M, Pozzato, M, Princiotta Cariddi, L, Tabaee Damavandi, P, Carimati, F, Banfi, P, Clemenzi, A, Marelli, M, Giorgianni, A, Vinacci, G, Mauri, M, Melzi, P, Di Stefano, M, Tetto, A, Canesi, M, Salmaggi, A, Colombo A., Martinelli Boneschi F., Beretta S., Bresolin N., Versino M., Lorusso L., Spagnoli D., Nastasi G., Vallauri D., Rota S., Repaci M., Ferrarini M., Pozzato M., Princiotta Cariddi L., Tabaee Damavandi P., Carimati F., Banfi P., Clemenzi A., Marelli M., Giorgianni A., Vinacci G., Mauri M., Melzi P., Di Stefano M., Tetto A., Canesi M., Salmaggi A., Colombo, A, Martinelli Boneschi, F, Beretta, S, Bresolin, N, Versino, M, Lorusso, L, Spagnoli, D, Nastasi, G, Vallauri, D, Rota, S, Repaci, M, Ferrarini, M, Pozzato, M, Princiotta Cariddi, L, Tabaee Damavandi, P, Carimati, F, Banfi, P, Clemenzi, A, Marelli, M, Giorgianni, A, Vinacci, G, Mauri, M, Melzi, P, Di Stefano, M, Tetto, A, Canesi, M, Salmaggi, A, Colombo A., Martinelli Boneschi F., Beretta S., Bresolin N., Versino M., Lorusso L., Spagnoli D., Nastasi G., Vallauri D., Rota S., Repaci M., Ferrarini M., Pozzato M., Princiotta Cariddi L., Tabaee Damavandi P., Carimati F., Banfi P., Clemenzi A., Marelli M., Giorgianni A., Vinacci G., Mauri M., Melzi P., Di Stefano M., Tetto A., Canesi M., and Salmaggi A.

Abstract

Posterior reversible encephalopathy cases are increasingly being reported in patients affected by COVID-19, but the largest series so far only includes 4 patients. We present a series of 6 patients diagnosed with PRES during COVID-19 hospitalized in 5 Centers in Lombardia, Italy. 5 out of the 6 patients required intensive care assistence and seizures developed at weaning from assisted ventilation. 3 out of 6 patients underwent cerebrospinal fluid analysis which was normal in all cases, with negative PCR for Sars-CoV-2 genome search. PRES occurrence may be less rare than supposed in COVID-19 patients and a high suspicion index is warranted for prompt diagnosis and treatment.

Published
2021

7. Supportive Care During Pediatric Hematopoietic Stem Cell Transplantation: Prevention of Infections. A Report From Workshops on Supportive Care of the Paediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author

Ifversen, M, Meisel, R, Sedlacek, P, Kalwak, K, Sisinni, L, Hutt, D, Lehrnbecher, T, Balduzzi, A, Diesch, T, Jarisch, A, Gungor, T, Stein, J, Yaniv, I, Bonig, H, Kuhlen, M, Ansari, M, Nava, T, Dalle, J, Diaz-de-Heredia, C, Trigoso, E, Falkenberg, U, Hartmann, M, Deiana, M, Canesi, M, Broggi, C, Bertaina, A, Gibson, B, Krivan, G, Vettenranta, K, Matic, T, Buechner, J, Lawitschka, A, Peters, C, Yesilipek, A, Yalcin, K, Lucchini, G, Bakhtiar, S, Turkiewicz, D, Niinimaki, R, Wachowiak, J, Cesaro, S, Dalissier, A, Corbacioglu, S, Willasch, A, Bader, P, Ifversen M., Meisel R., Sedlacek P., Kalwak K., Sisinni L., Hutt D., Lehrnbecher T., Balduzzi A., Diesch T., Jarisch A., Gungor T., Stein J., Yaniv I., Bonig H., Kuhlen M., Ansari M., Nava T., Dalle J. -H., Diaz-de-Heredia C., Trigoso E., Falkenberg U., Hartmann M., Deiana M., Canesi M., Broggi C., Bertaina A., Gibson B., Krivan G., Vettenranta K., Matic T., Buechner J., Lawitschka A., Peters C., Yesilipek A., Yalcin K., Lucchini G., Bakhtiar S., Turkiewicz D., Niinimaki R., Wachowiak J., Cesaro S., Dalissier A., Corbacioglu S., Willasch A. M., Bader P., Ifversen, M, Meisel, R, Sedlacek, P, Kalwak, K, Sisinni, L, Hutt, D, Lehrnbecher, T, Balduzzi, A, Diesch, T, Jarisch, A, Gungor, T, Stein, J, Yaniv, I, Bonig, H, Kuhlen, M, Ansari, M, Nava, T, Dalle, J, Diaz-de-Heredia, C, Trigoso, E, Falkenberg, U, Hartmann, M, Deiana, M, Canesi, M, Broggi, C, Bertaina, A, Gibson, B, Krivan, G, Vettenranta, K, Matic, T, Buechner, J, Lawitschka, A, Peters, C, Yesilipek, A, Yalcin, K, Lucchini, G, Bakhtiar, S, Turkiewicz, D, Niinimaki, R, Wachowiak, J, Cesaro, S, Dalissier, A, Corbacioglu, S, Willasch, A, Bader, P, Ifversen M., Meisel R., Sedlacek P., Kalwak K., Sisinni L., Hutt D., Lehrnbecher T., Balduzzi A., Diesch T., Jarisch A., Gungor T., Stein J., Yaniv I., Bonig H., Kuhlen M., Ansari M., Nava T., Dalle J. -H., Diaz-de-Heredia C., Trigoso E., Falkenberg U., Hartmann M., Deiana M., Canesi M., Broggi C., Bertaina A., Gibson B., Krivan G., Vettenranta K., Matic T., Buechner J., Lawitschka A., Peters C., Yesilipek A., Yalcin K., Lucchini G., Bakhtiar S., Turkiewicz D., Niinimaki R., Wachowiak J., Cesaro S., Dalissier A., Corbacioglu S., Willasch A. M., and Bader P.

Abstract

Specific protocols define eligibility, conditioning, donor selection, graft composition and prophylaxis of graft vs. host disease for children and young adults undergoing hematopoietic stem cell transplant (HSCT). However, international protocols rarely, if ever, detail supportive care, including pharmaceutical infection prophylaxis, physical protection with face masks and cohort isolation or food restrictions. Supportive care suffers from a lack of scientific evidence and implementation of practices in the transplant centers brings extensive restrictions to the child's and family's daily life after HSCT. Therefore, the Board of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT) held a series of dedicated workshops since 2017 with the aim of initiating the production of a set of minimal recommendations. The present paper describes the consensus reached within the field of infection prophylaxis.

Published
2021

9. Get up, stand up: Alongside adolescents and young adults with cancer for their right to be forgotten

Author

Quarello, P, Toss, A, Mascarin, M, Banna, G, Canesi, M, Milano, G, Incorvaia, L, Lambertini, M, Terenziani, M, Clerici, C, Vigevani, G, Beretta, G, Prete, A, Cinieri, S, Peccatori, F, Ferrari, A, Quarello, Paola, Toss, Angela, Mascarin, Maurizio, Banna, Giuseppe Luigi, Canesi, Marta, Milano, Giuseppe Maria, Incorvaia, Lorena, Lambertini, Matteo, Terenziani, Monica, Clerici, Carlo Alfredo, Vigevani, Giulio Enea, Beretta, Giordano Domenico, Prete, Arcangelo, Cinieri, Saverio, Peccatori, Fedro Alessandro, Ferrari, Andrea, Quarello, P, Toss, A, Mascarin, M, Banna, G, Canesi, M, Milano, G, Incorvaia, L, Lambertini, M, Terenziani, M, Clerici, C, Vigevani, G, Beretta, G, Prete, A, Cinieri, S, Peccatori, F, Ferrari, A, Quarello, Paola, Toss, Angela, Mascarin, Maurizio, Banna, Giuseppe Luigi, Canesi, Marta, Milano, Giuseppe Maria, Incorvaia, Lorena, Lambertini, Matteo, Terenziani, Monica, Clerici, Carlo Alfredo, Vigevani, Giulio Enea, Beretta, Giordano Domenico, Prete, Arcangelo, Cinieri, Saverio, Peccatori, Fedro Alessandro, and Ferrari, Andrea

Abstract

Adolescent and young adult cancer survivors may experience various forms of social difficulties years or even decades after completing their cancer treatments. This article will hopefully help the Italian national project dedicated to adolescents and young adults with cancer promoting political and legal solutions to stop discrimination and supporting the right to be forgotten.

Published
2022

11. Pisa syndrome in Parkinson’s disease: demographic and clinical correlations in an Italian multicenter study: EP1137

Author

Juergenson, I. B., Geroin, C., Bombieri, F., Smania, N., Ottaviani, S., Bovi, T., Bisoffi, G., Mirandola, R., Canesi, M., Pezzoli, G., Ceravolo, R., Frosini, D., Rossi, S., Ulivelli, M., Thomas, A., Di Giacomo, R., Fabbrini, G., Sarchioto, M., Bentivoglio, A., Bove, F., Tamma, F., Lucchese, V., Cossu, G., Di Stefano, F., Pisani, A., Amadeo, G., Modugno, N., Zappia, M., Nicoletti, A., Volonté, M. A., Spagnolo, F., Sciaretta, M., Altavilla, T., Abbruzzese, G., Cordano, C., Pacchetti, C., Pozzi, N. G., Marconi, R., Gallerini, S., Mignarri, A., Allocca, R., Defazio, G., Morgante, F., Riccardi, L., Cannas, A., Solla, P., Vitale, C., Fasano, A., Barone, P., and Tinazzi, M.

Published
2014

12. Supportive care during pediatric hematopoietic stem cell transplantation: prevention of infections:a report from workshops on supportive care of the Paediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author

Ifversen, M. (Marianne), Meisel, R. (Roland), Sedlacek, P. (Petr), Kalwak, K. (Krzysztof), Sisinni, L. (Luisa), Hutt, D. (Daphna), Lehrnbecher, T. (Thomas), Balduzzi, A. (Adriana), Diesch, T. (Tamara), Jarisch, A. (Andrea), Güngör, T. (Tayfun), Stein, J. (Jerry), Yaniv, I. (Isaac), Bonig, H. (Halvard), Kuhlen, M. (Michaela), Ansari, M. (Marc), Nava, T. (Tiago), Dalle, J.-H. (Jean-Hugues), Diaz-de-Heredia, C. (Cristina), Trigoso, E. (Eugenia), Falkenberg, U. (Ulrike), Hartmann, M. (Mihaela), Deiana, M. (Marco), Canesi, M. (Marta), Broggi, C. (Chiara), Bertaina, A. (Alice), Gibson, B. (Brenda), Krivan, G. (Gergely), Vettenranta, K. (Kim), Matic, T. (Toni), Buechner, J. (Jochen), Lawitschka, A. (Anita), Peters, C. (Christina), Yesilipek, A. (Akif), Yalçin, K. (Koray), Lucchini, G. (Giovanna), Bakhtiar, S. (Shahrzad), Turkiewicz, D. (Dominik), Niinimäki, R. (Riitta), Wachowiak, J. (Jacek), Cesaro, S. (Simone), Dalissier, A. (Arnaud), Corbacioglu, S. (Selim), Willasch, A. M. (Andre Manfred), Bader, P. (Peter), Ifversen, M. (Marianne), Meisel, R. (Roland), Sedlacek, P. (Petr), Kalwak, K. (Krzysztof), Sisinni, L. (Luisa), Hutt, D. (Daphna), Lehrnbecher, T. (Thomas), Balduzzi, A. (Adriana), Diesch, T. (Tamara), Jarisch, A. (Andrea), Güngör, T. (Tayfun), Stein, J. (Jerry), Yaniv, I. (Isaac), Bonig, H. (Halvard), Kuhlen, M. (Michaela), Ansari, M. (Marc), Nava, T. (Tiago), Dalle, J.-H. (Jean-Hugues), Diaz-de-Heredia, C. (Cristina), Trigoso, E. (Eugenia), Falkenberg, U. (Ulrike), Hartmann, M. (Mihaela), Deiana, M. (Marco), Canesi, M. (Marta), Broggi, C. (Chiara), Bertaina, A. (Alice), Gibson, B. (Brenda), Krivan, G. (Gergely), Vettenranta, K. (Kim), Matic, T. (Toni), Buechner, J. (Jochen), Lawitschka, A. (Anita), Peters, C. (Christina), Yesilipek, A. (Akif), Yalçin, K. (Koray), Lucchini, G. (Giovanna), Bakhtiar, S. (Shahrzad), Turkiewicz, D. (Dominik), Niinimäki, R. (Riitta), Wachowiak, J. (Jacek), Cesaro, S. (Simone), Dalissier, A. (Arnaud), Corbacioglu, S. (Selim), Willasch, A. M. (Andre Manfred), and Bader, P. (Peter)

Abstract

Specific protocols define eligibility, conditioning, donor selection, graft composition and prophylaxis of graft vs. host disease for children and young adults undergoing hematopoietic stem cell transplant (HSCT). However, international protocols rarely, if ever, detail supportive care, including pharmaceutical infection prophylaxis, physical protection with face masks and cohort isolation or food restrictions. Supportive care suffers from a lack of scientific evidence and implementation of practices in the transplant centers brings extensive restrictions to the child’s and family’s daily life after HSCT. Therefore, the Board of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT) held a series of dedicated workshops since 2017 with the aim of initiating the production of a set of minimal recommendations. The present paper describes the consensus reached within the field of infection prophylaxis.

Published
2021

21. Predictors of COVID-19 outcome in Parkinson's disease

Author

Fasano, A, Elia, A, Dallocchio, C, Canesi, M, Alimonti, D, Sorbera, C, Alonso-Canovas, A, Pezzoli, G, Fasano, Alfonso, Elia, Antonio E, Dallocchio, Carlo, Canesi, Margherita, Alimonti, Dario, Sorbera, Chiara, Alonso-Canovas, Araceli, Pezzoli, Gianni, Fasano, A, Elia, A, Dallocchio, C, Canesi, M, Alimonti, D, Sorbera, C, Alonso-Canovas, A, Pezzoli, G, Fasano, Alfonso, Elia, Antonio E, Dallocchio, Carlo, Canesi, Margherita, Alimonti, Dario, Sorbera, Chiara, Alonso-Canovas, Araceli, and Pezzoli, Gianni

Abstract

Introduction: Specific pre-existing medical conditions (e.g. hypertension or obesity), advanced age and male sex appear linked to more severe manifestations of SARS Co-V2 infection, thus raising the question of whether Parkinson's disease (PD) poses an increased risk of morbidity and mortality in COVID-19 patients. Methods: In order to describe the outcome of COVID-19 in multi-centre a cohort of PD patients and explore its potential predictors, we gathered the clinical information of 117 community-dwelling patients with COVID-19 followed in 21 tertiary centres in Italy, Iran, Spain, and the UK. Results: Overall mortality was 19.7%, with a significant effect of co-occurrence of dementia, hypertension, and PD duration. Conclusions: The frailty caused by advanced PD poses an increased risk of mortality during COVID-19.

Published
2020

22. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor

Author

Goldwurm, S, Fonzo, A Di, Simons, E J, Rohé, C F, Zini, M, Canesi, M, Tesei, S, Zecchinelli, A, Antonini, A, Mariani, C, Meucci, N, Sacilotto, G, Sironi, F, Salani, G, Ferreira, J, Chien, H F, Fabrizio, E, Vanacore, N, Libera, A Dalla, Stocchi, F, Diroma, C, Lamberti, P, Sampaio, C, Meco, G, Barbosa, E, Bertoli-Avella, A M, Breedveld, G J, Oostra, B A, Pezzoli, G, and Bonifati, V

Published
2005

26. Which patients discontinue? Issues on Levodopa/carbidopa intestinal gel treatment: Italian multicentre survey of 905 patients with long-term follow-up

Author

Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita M., Gi, Volonté, M. A., on behalf of the, ITALIAN LEVODOPA CARBIDOPA INTESTINAL GEL WORKING GROUP, Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita, M. G., Volonte, M. A., Sensi, Mariachiara, Cossu, Giovanni, Mancini, Francesca, Pilleri, Manuela, Zibetti, Maurizio, Modugno, Nicola, Quatrale, Rocco, Tamma, Filippo, Antonini, Angelo, Italian Levodopa Carbidopa Intestinal Gel Working Group [.., Calandra-Buonaura, Giovanna, Cortelli, Pietro, and ]

Subjects
Male, 0301 basic medicine, Pediatrics, Neurology, Parkinson's disease, Longitudinal Studie, Pharmacology, Antiparkinson Agents, Levodopa, 0302 clinical medicine, Retrospective Studie, Weight loss, Drug Combination, levodopa-carbidopa intestinal gel infusion, neuropathy, parkinson's disease, withdrawal, Longitudinal Studies, Gel, Carbidopa, Parkinson Disease, Health Survey, Intestine, Substance Withdrawal Syndrome, Intestines, Drug Combinations, Italy, Antiparkinson Agent, Withdrawal, Disease Progression, Female, Settore MED/26 - Neurologia, medicine.symptom, Human, medicine.drug, medicine.medical_specialty, Levodopa-carbidopa intestinal gel infusion, Neuropathy, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, medicine, Humans, Adverse effect, Retrospective Studies, business.industry, Retrospective cohort study, Gels, Health Surveys, medicine.disease, Comorbidity, Discontinuation, 030104 developmental biology, business, 030217 neurology & neurosurgery
Abstract

Objectives To report the results of a national survey aimed at quantifying the current level of diffusion of Levodopa/carbidopa intestinal gel (LCIG) in Italy. Methods Sixty Parkinson's Disease (PD) specialists in Italy were invited to complete a survey covering issues on clinical and practical aspects of LCIG therapy. Results Clinical features of 905 patients were collected retrospectively. The majority of centres reported the use of a multidisciplinary team, biochemistry testing, neurophysiological and neuropsychological tests before and after treatment, in addition to caregivers' training and patient's follow as outpatients. Most centres (60%) used internal guidelines for patient selection. The overall rate of adverse events was 55.1%. Weight loss, chronic polyneuropathy and stoma infection were the most frequently reported. 40% of centres used replacement therapy with Vitamin B12 and Folic acid from the start of LCIG and continued this for the duration of treatment. The rate of discontinuation was of 25.7% overall, with 9.5% of cases occurring in the first year. The main causes of withdrawal were device-related complications, disease progression (comorbidity, severe dementia) and caregiver and/or patient dissatisfaction. Conclusions In Italy LCIG infusion is managed in a uniform manner at a clinical, practical and organizational level even though the selection criteria are not standardized through the country. The high percentage of patients remaining on treatment in the short- and long-term follow-up confirms effectiveness of treatment, careful follow-up, and appropriate patient and caregivers training.

Published
2017

27. Microtubule defects in mesenchymal stromal cells distinguish patients with Progressive Supranuclear Palsy

Author

Calogero, A. M. (Alessandra Maria), Viganò, . M. ( Mariele), Budelli, S. (Silvia), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Cartelli, D. (Daniele), Lazzari, L. (Lorenza), Lehenkari, P. (Petri), Canesi, M. (Margherita), Giordano, R. (Rosaria), Cappelletti, G. (Graziella), and Pezzoli, G. (Gianni)

Subjects
microtubules, Progressive Supranuclear Palsy, neurodegeneration, bone marrow mesenchymal stromal cells
Abstract

Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disease whose etiopathogenesis remains elusive. The intraneuronal accumulation of hyperphosphorylated Tau, a pivotal protein in regulating microtubules (MT), leads to include PSP into tauopathies. Pathological hallmarks are well known in neural cells but no word yet if PSP‐linked dysfunctions occur also in other cell types. We focused on bone marrow mesenchymal stromal cells (MSCs) that have recently gained attention for therapeutic interventions due to their anti‐inflammatory, antiapoptotic and trophic properties. Here, we aimed to investigate MSCs biology and to disclose if any disease‐linked defect occurs in this non‐neuronal compartment. First, we found that cells obtained from patients showed altered morphology and growth. Next, Western blotting analysis unravelled the imbalance in α‐tubulin post‐translational modifications and in MT stability. Interestingly, MT mass is significantly decreased in patient cells at baseline and differently changes overtime compared to controls, suggesting their inability to efficiently remodel MT cytoskeleton during ageing in culture. Thus, our results provide the first evidence that defects in MT regulation and stability occur and are detectable in a non‐neuronal compartment in patients with PSP. We suggest that MSCs could be a novel model system for unravelling cellular processes implicated in this neurodegenerative disorder.

Published
2018

28. Prevalence of fatigue in Parkinson disease and its clinical correlates

Author

Stocchi, F., Abbruzzese, G., Ceravolo, R., Cortelli, P., D'Amelio, M., De Pandis, M., Fabbrini, G., Pacchetti, C., Pezzoli, G., Tessitore, A., Canesi, M., Iannacone, C., Zappia, M., For the FORTE Study Group, Stocchi,F, Abbruzzese,G, Ceravolo, R, Cortelli, P, D’Amelio, M, De Pandis, MF, Fabbrini, G, Pacchetti, C, Pezzoli, G, Tessitore, A, Canesi, M, Iannacone, C, Zappia, M, For the FORTE Study Group, Stocchi, F, Abbruzzese, G, D'Amelio, M, De Pandis, Mf, Tessitore, Alessandro, Zappia, M., Stocchi, F., Abbruzzese, G., Ceravolo, R., Cortelli, P., D'Amelio, M., De Pandis, M.F., Fabbrini, G., Pacchetti, C., Pezzoli, G., Tessitore, A., Canesi, M., and Iannacone, C.

Subjects
Male, Time Factors, Disease, DSM-IV 5 Diagnostic and Statistical Manual of Mental Disorders, 4th edition, ICD-10 5 International Classification of Diseases, 10th revision, MAO-B 5 monoamine oxidase B, MS 5 multiple sclerosis, PD 5 Parkinson disease, PDQ-39 5 39-item Parkinson’s Disease Questionnaire, PDSS 5 Parkinson’s Disease Sleep Scale, PFS-16 5 16-item Parkinson Fatigue Scale, UPDRS 5 Unified Parkinson’s Disease Rating Scale, Severity of Illness Index, Quality of life, 80 and over, Prevalence, Age Factor, Depression (differential diagnoses), Fatigue, Aged, 80 and over, Depression, musculoskeletal, neural, and ocular physiology, Age Factors, Parkinson Disease, Middle Aged, Italy, Female, Settore MED/26 - Neurologia, MS 5 multiple sclerosi, Psychology, Human, Adult, Sleep Wake Disorders, medicine.medical_specialty, macromolecular substances, Arts and Humanities (miscellaneous), Internal medicine, medicine, Distressing, Humans, In patient, Aged, Cross-Sectional Studie, nervous system diseases, Cross-Sectional Studies, Neurology (clinical), nervous system, Physical therapy, Sleep Disorder
Abstract

Objective: To assess in a noninterventional setting the prevalence and severity of fatigue in patients with Parkinson disease (PD). Methods: This was a cross-sectional study conducted in Italian patients with PD. Objectives included the evaluation of the current prevalence and severity of fatigue in patients with PD measured using the 16-item Parkinson Fatigue Scale (PFS-16), distressing fatigue (defined as a PFS-16 mean score $3.3), and assessment of its clinical correlates. Results: A total of 402 patients were enrolled and 394 patients completed the PFS-16 questionnaire with a PFS-16 mean (6SD) score of 2.87 6 0.99. Of these, 136 patients (33.8%) reported distressing fatigue (PFS-16 mean score $3.3). Patients with distressing fatigue were older (p 5 0.044) and had a longer duration of PD (p , 0.0001) than those without distressing fatigue. The presence of distressing fatigue was associated with higher total Unified Parkinson’s Disease Rating Scale (UPDRS) scores, poorer quality of life (39-item Parkinson’s Disease Questionnaire [PDQ-39]), worse social and psychological behaviors, a higher severity of depressive symptoms, and a higher prevalence of sleep disorders (all p , 0.001). Logistic regression analyses revealed that higher total UPDRS scores, female sex, depression, sleep disorders, as well as higher UPDRS activities of daily living scores and PDQ-39 mobility scores increase the likelihood of distressing fatigue in patients with PD. Conclusions: Approximately one-third of patients with PD have distressing fatigue, which is significantly associated with depression and sleep disorders. The fact that the presence of fatigue worsens patient quality of life supports the need to better diagnose and treat this debilitating symptom.

Published
2014

30. Axial motor clues to identify atypical parkinsonism: A multicentre European cohort study

Author

Borm, C.D.J.M., Krismer, F., Wenning, G.K., Seppi, K., Poewe, W., Pellecchia, M.T., Barone, P., Johnsen, E.L., Ostergaard, K, Gurevich, T., Djaldetti, R., Sambati, L., Cortelli, P., Petrovic, I., Kostic, V.S., Brozova, H., Ruzicka, E., Marti, M.J., Tolosa, E., Canesi, M., Post, B., Nonnekes, J.H., Bloem, B.R., Borm, C.D.J.M., Krismer, F., Wenning, G.K., Seppi, K., Poewe, W., Pellecchia, M.T., Barone, P., Johnsen, E.L., Ostergaard, K, Gurevich, T., Djaldetti, R., Sambati, L., Cortelli, P., Petrovic, I., Kostic, V.S., Brozova, H., Ruzicka, E., Marti, M.J., Tolosa, E., Canesi, M., Post, B., Nonnekes, J.H., and Bloem, B.R.

Abstract

Item does not contain fulltext, OBJECTIVE: Differentiating Parkinson's disease (PD) from atypical parkinsonian disorders (APD) such as Multiple System Atrophy, parkinsonian type (MSA-p) or Progressive Supranuclear Palsy (PSP-RS) can be challenging. Early signs of postural Instability and gait disability (PIGD) are considered clues that may signal presence of APD. However, it remains unknown which PIGD test - or combination of tests - can best distinguish PD from APD. We evaluated the discriminative value of several widely-used PIGD tests, and aimed to develop a short PIGD evaluation that can discriminate parkinsonian disorders. METHODS: In this multicentre cohort study patients were recruited by 11 European MSA Study sites. Patients were diagnosed using standardized criteria. Postural instability and gait disability was evaluated using interviews and several clinical tests. RESULTS: Nineteen PD, 21 MSA-p and 25PSP-RS patients were recruited. PIGD was more common in APD compared to PD. There was no significant difference in axial symptoms between PSP-RS and MSA-p, except for self-reported falls (more frequent in PSP-RS patients). The test with the greatest discriminative power to distinguish APD from PD was the ability to perform tandem gait (AUC 0.83; 95% CI 71-94; p<0.001), followed by the retropulsion test (AUC 0.8; 95% CI 0.69-0.91; p<0.001) and timed-up-and-go test (TUG) (AUC 0.77; 95% CI 0.64-0.9; p=0.001). The combination of these three tests yielded highest diagnostic accuracy (AUC 0.96; 95% CI 0.92-1.0; p<0.001). CONCLUSIONS: Our study suggests that simple "bedside" PIGD tests - particularly the combination of tandem gait performance, TUG and retropulsion test - can discriminate APD from PD.

Published
2018

31. Pisa syndrome in Parkinson disease

Author

Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, MA, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, AF, Juergenson, I, Lena, F, Leocani, LM, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, Ulivelli, M., Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, Ma, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, Af, Juergenson, I, Lena, F, Leocani, Lm, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, and Ulivelli, M.

Subjects
Cross-Sectional Studie, Levodopa, Male, Dystonia, Italy, Female, Parkinson Disease, Syndrome, Cohort Studie, Middle Aged, Aged, Dopamine Agonist, Human
Published
2015

33. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

Author

Healy, Daniel G., Mario, Falchi, O'Sullivan, Sean S., Bonifati, Vincenzo, Alexandra, Durr, Susan, Bressman, Alexis, Brice, Jan, Aasly, Zabetian, Cyrus P., Stefano, Goldwurm, Ferreira, Joaquim J., Eduardo, Tolosa, Kay, Denise M., Christine, Klein, Williams, David R., Connie, Marras, Lang, Anthony E., Wszolek, Zbigniew K., Jose, Berciano, Schapira, Anthony H. V., Timothy, Lynch, Bhatia, Kailash P., Thomas, Gasser, Lees, Andrew J., Wood, Nicholas W., International Lrrk Consortium, Collaborators, Tazir, M., Ysmail Dahlouk, F., Belarbi, S., Hecham, N., Barbosa, E., Chien, H. F., Rieder, C. R., Jardim, L. B., Rogaeva, E., Lesage, S., Lohmann, E., Vidailhet, M., Bonnet, A. M., Agid, Y., Pollak, P., Tison, F., Durif, F., Broussolle, E., Berg, D., Hagenah, J., Gosal, D., Gibson, M., Vanacore, Nicola, Berardelli, Alfredo, Fabbrini, Giovanni, Fabrizio, E., Meco, Giuseppe, Stocchi, F., Dalla Libera, A., De Mari, M., Lamberti, P., Cossu, G., Pezzoli, G., Zini, M., Tesei, S., Zecchinelli, A., Sironi, F., Antonini, A., Mariani, C., Sacilotto, G., Meucci, N., Canesi, M., Di Fonzo, A., Oostra, B., Correia Guedes, L., Rosa, Mm, Coelho, M., Sampaio, C., Gaig, C., C. S., Lu, Wu Chou, Y. H., Quinn, N. P., Abou Sleiman, P. M., Muqit, M. M., Khan, N. L., Gandhi, S., Vaughan, J., Payami, H., Nutt, J. J., Factor, S. A., Higgins, D. S., Farrer, M. J., Hulihan, M., Brown, L., Mata, I. F., Samii, A., Yearout, D., Griffith, A., Leis, B. C., Roberts, J. W., Clinical Genetics, Department of Clinical Neurosciences, University College of London [London] (UCL)-Institute of Neurology, Genomic Medicine, Imperial College London-Kings College, Reta Lila Weston Institute for Neurological Studies, Queen Mary University of London (QMUL), Department of Clinical Genetics (DCG), Erasmus University Medical Centre, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Beth Israel Medical Centre- Albert Einstein College of Medicine [New York], St. Olav's Hospital, University of Washington [Seattle], Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Parkinson Institute, Istituti Clinici di Perfezionamento, Neurological Clinic Research Unit, Institute of Molecular Medicine-Lisbon School of Medicine, Neurology Service, Institut Clinic Maltias del Sistema Nervios-Hospital Clinic Universitari-University of Barcelona, Division of Genetic Disorders, New York State Department of Health [Albany], University of Luebeck, Faculty of Medicine (Neurosciences), Monash University [Clayton], University of Toronto, Mayo Clinic Jacksonville, Service of Neurology, Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Salud Carlos III [Madrid] (ISC), Mater Misericordiae University Hospital (The Mater Hospital), Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Department of Neurodegenerative Diseases, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen-Hertie-Institut for Clinical Brain Research, Department of Molecular Pathogenesis, UK Medical Research Council, UK Parkinson's Disease Society, UK Brain Research Trust, Internationaal Parkinson Fonds, Volkswagen Foundation, National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging, Udall Parkinson's Disease Centre of Excellence, Pacific Alzheimer Research Foundation Centre, Italian Telethon Foundation, Fondazione Grigioni per il Morbo di Parkinson, Michael J Fox Foundation for Parkinson's Research, Safra Global Genetics Consortium, US Department of Veterans Affairs, French Agence Nationale de la Recherche., ANR-05-NEUR-0019,LRRK2 in PD,Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson(2005), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Beth Israel Medical Centre- Albert Einstein College of Medicine, CIBER de Enfermedades Neurodegenerativas (CIBERNED), Mater Misericordiae University Hospital, Eberhard Karls Universität Tübingen-Hertie-Institut for Clinical Brain Research, ANR-05-NEURO-019,ANR-05-NEURO-019, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Gerontology, Male, Risk, Pediatrics, medicine.medical_specialty, Parkinson's disease, Genotype, International Cooperation, DNA Mutational Analysis, Glycine, Clinical Neurology, Penetrance, Disease, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, medicine, Serine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, 030304 developmental biology, Genetic testing, Family Health, 0303 health sciences, medicine.diagnostic_test, business.industry, Case-control study, Age Factors, Parkinson Disease, medicine.disease, LRRK2, 3. Good health, nervous system diseases, Dyskinesia, Case-Control Studies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), genetics, parkinson, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2 ? Methods Researchers from 21 centres across the world collaborated on this study. The frequency of the common LRRK2 Gly2019Ser mutation was estimated on the basis of data from 24 populations worldwide, and the penetrance of the mutation was defined in 1045 people with mutations in LRRK2 from 133 families. The LRRK2 phenotype was defined on the basis of 59 motor and non-motor symptoms in 356 patients with LRRK2 -associated PD and compared with the symptoms of 543 patients with pathologically proven idiopathic PD. Findings Six mutations met the consortium's criteria for being proven pathogenic. The frequency of the common LRRK2 Gly2019Ser mutation was 1% of patients with sporadic PD and 4% of patients with hereditary PD; the frequency was highest in the middle east and higher in southern Europe than in northern Europe. The risk of PD for a person who inherits the LRRK2 Gly2019Ser mutation was 28% at age 59 years, 51% at 69 years, and 74% at 79 years. The motor symptoms (eg, disease severity, rate of progression, occurrence of falls, and dyskinesia) and non-motor symptoms (eg, cognition and olfaction) of LRRK2 -associated PD were more benign than those of idiopathic PD. Interpretation Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD. However, this knowledge should be applied with caution in the diagnosis and counselling of patients. Funding UK Medical Research Council; UK Parkinson's Disease Society; UK Brain Research Trust; Internationaal Parkinson Fonds; Volkswagen Foundation; National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging; Udall Parkinson's Disease Centre of Excellence; Pacific Alzheimer Research Foundation Centre; Italian Telethon Foundation; Fondazione Grigioni per il Morbo di Parkinson; Michael J Fox Foundation for Parkinson's Research; Safra Global Genetics Consortium; US Department of Veterans Affairs; French Agence Nationale de la Recherche.

Published
2008
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36. Validation of the Italian version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale

Author

Antonini, A, Abbruzzese, G, Ferini Strambi, L, Tilley, B, Huang, J, Stebbins, Gt, Goetz, Cg, Barone, P, MDS UPDRS Italian Validation Study Group, Bandettini di Poggio, M, Fabbrini, G, Di Stasio, F, Tinazzi, M, Bovi, T, Ramat, S, Meoni, S, Pezzoli, G, Canesi, M, Martinelli, P, Maria Scaglione CL, Rossi, A, Tambasco, N, Santangelo, G, Picillo, M, Morgante, Letterio, Morgante, Francesca, Quatrale, R, Sensi, M, Pilleri, M, Biundo, R, Nordera, G, Caria, A, Pacchetti, C, Zangaglia, R, Lopiano, L, Zibetti, M, Zappia, M, Nicoletti, A, Quattrone, A, Salsone, M, Cossu, G, Murgia, D, Albanese, A, Del Sorbo, F., Antonini, A, Abbruzzese, G, Ferini Strambi, L, Tilley, B, Huang, J, Stebbins, Gt, Goetz, Cg, Barone, P, MDS UPDRS Italian Validation Study, Group, Bandettini di Poggio, M, Fabbrini, G, Di Stasio, F, Tinazzi, M, Bovi, T, Ramat, S, Meoni, S, Pezzoli, G, Canesi, M, Martinelli, P, Maria Scaglione, Cl, Rossi, A, Tambasco, N, Santangelo, Gabriella, Picillo, M, Morgante, L, Morgante, F, Quatrale, R, Sensi, M, Pilleri, M, Biundo, R, Nordera, G, Caria, A, Pacchetti, C, Zangaglia, R, Lopiano, L, Zibetti, M, Zappia, M, Nicoletti, A, Quattrone, A, Salsone, M, Cossu, G, Murgia, D, Albanese, A, and Del Sorbo, F.

Subjects
Male, Unified Parkinson's Disease Rating Scale, Mds updrs, Parkinson's disease, Unified Parkinson’s Disease Rating Scale, Unified Parkinson's disease rating scale, Dermatology, Neuropsychological Tests, Factor structure, Severity of Illness Index, MDS-UPDRS, rating scale, rating scales, Disability Evaluation, Rating scale, Medical, Humans, Translations, Societies, Medical, Neurologic Examination, Protocol (science), Movement Disorders, Movement (music), Reproducibility of Results, Parkinson Disease, General Medicine, Statistical, Linguistics, Focus (linguistics), Settore MED/26 - NEUROLOGIA, Psychiatry and Mental health, Italy, Index (publishing), Female, Neurology (clinical), Societies, Factor Analysis, Statistical, Psychology, Factor Analysis, Social psychology
Abstract

The Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has been available in English since 2008. As part of this process, the MDS-UPDRS organizing team developed guidelines for development of official non- English translations. We present here the formal process for completing officially approved non-English versions of the MDS-UPDRS and specifically focus on the first of these versions in Italian. The MDS-UPDRS was translated into Italian and tested in 377 native-Italian speaking PD patients. Confirmatory and exploratory factor analyses determined whether the factor structure for the English- language MDS-UPDRS could be confirmed in data col- lected using the Italian translation. To be designated an 'Official MDS translation,' the Comparative Fit Index (CFI) had to be C0.90 relative to the English-language version. For all four parts of the Italian MDS-UPDRS, the CFI, in comparison with the English-language data, was C0.94. Exploratory factor analyses revealed some differ- ences between the two datasets, however these differences were considered to be within an acceptable range. The Italian version of the MDS-UPDRS reaches the criterion to be designated as an Official Translation and is now avail- able for use. This protocol will serve as outline for further validation of this in multiple languages.

Published
2013
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37. Pisa syndrome in Parkinson disease

Author

Tinazzi, M., Fasano, A., Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, A., Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volontè, M. A., Dallocchio, C., Abbruzzese, G., Pacchetti, C., Marconi, R., Defazio, G., Canesi, M., Cannas, A., Pisani, A., Mirandola, R., Barone, P., Vitale, C., Italian Pisa Syndrome Study Group, Allocca, R., Altavilla, T., Bisoffi, G., Bombieri, F., Bove, F., Bovi, T., Cerbarano, L., Cordano, C., Di Giacomo, R., Di Stefano, F., Erro, R., Gallerini, S., Gandolfi, M., Gigante, A. F., Juergenson, I., Lena, F., Leocani, L. M., Lucchese, V., Madeo, G., Mazzucchi, S., Moccia, M., Nicoletti, A., Ottaviani, S., Pezzoli, G., Santangelo, G., Sarchioto, M., Schena, F., Sciarretta, M., Smania, N., Solla, P., Spagnolo, F., and Ulivelli, M.

Subjects
Male, Aged, Cohort Studies, Cross-Sectional Studies, Dopamine Agonists, Dystonia, Female, Humans, Italy, Levodopa, Middle Aged, Parkinson Disease, Syndrome, Neurology (clinical)
Published
2015

39. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Author

Blauwendraat, C., Faghri, F., Pihlstrom, L., Geiger, J. T., Elbaz, A., Lesage, S., Corvol, J. -C., May, P., Nicolas, A., Abramzon, Y., Murphy, N. A., Gibbs, J. R., Ryten, M., Ferrari, R., Bras, J., Guerreiro, R., Williams, J., Sims, R., Lubbe, S., Hernandez, D. G., Mok, K. Y., Robak, L., Campbell, R. H., Rogaeva, E., Traynor, B. J., Chia, R., Chung, S. J., Hardy, J. A., Brice, A., Wood, N. W., Houlden, H., Shulman, J. M., Morris, H. R., Gasser, T., Kruger, R., Heutink, P., Sharma, M., Simon-Sanchez, J., Nalls, M. A., Singleton, A. B., Scholz, S. W., Noyce, A. J., Giri, A., Oehmig, A., Tucci, A., Schulte, C., Cookson, M. R., Kia, D., Danjou, F., Charlesworth, G., Plun-Favreau, H., Holmans, P., Jansen, I., Hardy, J., Bras, J. M., Quinn, J., Botia, J. A., Billingsley, K., R'Bibo, L., Lungu, C., Martinez, M., Escott-Price, V., Mencacci, N. E., Topley, Lewis, Denny, P., Rizzu, P., Taba, P., Lovering, R., Ogalla, R. D., Foulger, R., Finkbeiner, S., Sveinbjornsdottir, S., Scholz, S., Koks, S., Foltynie, T., Price, T. R., Sheerin, U. -M., Williams, N., Reed, X., Wang, L., Brockmann, K., Oertel, W., Klein, C., Mohamed, F., Malard, L., Corti, O., Drouet, V., Goldwurm, S., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Ginevrino, M., Toft, M., Aasly, J., Henriksen, S. P., Saetehaug, C., Orr-Urtreger, A., Giladi, N., Ferreira, J., Guedes, L. C., Bouca-Machado, R., Coelho, M., Rosa, M. M., Tolosa, E., Fernandez-Santiago, R., Ezquerra, M., Marti, M. J., Glaab, E., Balling, R., and Chung, S. -J.

Subjects
0301 basic medicine, Aging, methods [Genome-Wide Association Study], 0302 clinical medicine, Corticobasal degeneration, neurodegenerative diseases, humans, risk, high-throughput screening assays, education.field_of_study, General Neuroscience, neurodegeneration, genetics [Genetic Variation], 3. Good health, Neurochip, alleles, methods [Genotyping Techniques], Frontotemporal dementia, Risk, Population, methods [High-Throughput Screening Assays], Computational biology, Genetic screening, genotyping, NeuroChip, NeuroX, apolipoproteins E, genetic variation, genome-wide association study, genotyping techniques, Article, Progressive supranuclear palsy, 03 medical and health sciences, Apolipoproteins E, medicine, Humans, Dementia, ddc:610, education, Genotyping, Alleles, business.industry, medicine.disease, 030104 developmental biology, genetics [Neurodegenerative Diseases], genetics [Apolipoproteins E], Neurology (clinical), Geriatrics and Gerontology, business, Neuroscience, 030217 neurology & neurosurgery, Imputation (genetics), Developmental Biology
Abstract

Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a fast and efficient genotyping platform designed for the investigation of genetic variation in neurodegenerative diseases. Here, we present its updated version, named NeuroChip. The NeuroChip is a low-cost, custom-designed array containing a tagging variant backbone of about 306,670 variants complemented with a manually curated custom content comprised of 179,467 variants implicated in diverse neurological diseases, including Alzheimer's disease, Parkinson's disease, Lewy body dementia, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, and multiple system atrophy. The tagging backbone was chosen because of the low cost and good genome-wide resolution; the custom content can be combined with other backbones, like population or drug development arrays. Using the NeuroChip, we can accurately identify rare variants and impute over 5.3 million common SNPs from the latest release of the Haplotype Reference Consortium. In summary, we describe the design and usage of the NeuroChip array and show its capability for detecting rare pathogenic variants in numerous neurodegenerative diseases. The NeuroChip has a more comprehensive and improved content, which makes it a reliable, high-throughput, cost-effective screening tool for genetic research and molecular diagnostics in neurodegenerative diseases.

Published
2017
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41. An association between pain and American association of respiratory care 2010 guidelines during tracheal suctioning

Author

Lucchini, A, Canesi, M, Robustelli, G, Fumagalli, R, Bambi, S, LUCCHINI, ALBERTO, FUMAGALLI, ROBERTO, Bambi, S., Lucchini, A, Canesi, M, Robustelli, G, Fumagalli, R, Bambi, S, LUCCHINI, ALBERTO, FUMAGALLI, ROBERTO, and Bambi, S.

Abstract

Introduction: Tracheal suctioning is recalled by mechanically ventilated patients as the most painful procedure during their stay in the intensive care unit. Aim: The aim of this study was to evaluate whether the implementation of American Association of Respiratory Care suction guidelines positively affects the levels of patients' pain. Materials and Methods: This is a prospective observational study on adult patients admitted to 2 general intensive care units. Pain levels in sedated mechanically ventilated patients were recorded before, during, and after tracheal suctioning, using the Critical Care Pain Observation Tool (CPOT). Results: Forty-seven patients were enrolled, with a mean age of 61.72 (T18.46) years. Median CPOT value was 0 (quartile 1 [Q1] [25%], 0; quartile 3 [Q3] [75%], 0; min, 0; max, 2) during the procedure. The Critical Care Pain Observation Tool reached a median value of 3, while 5 minutes after suctioning. Postprocedural CPOT median score was 0 (Q1 [25%], 0; Q3 [75%], 0; min, 0; max, 2). The median number of passes during suctioning was 1 (Q1, 1; Q3, 2). The sizes of suction catheters used in the recorded procedures were as follows: 12F in 27 cases (57%), 14F in 18 cases (38%), and 10F in 2 cases (5%). The median size of the endotracheal tube was 7.5 mm (Q1, 7.5; Q3, 8). The correct ratio between endotracheal tube diameter and suction catheter was used in 24 procedures (51%). Conclusions: Despite the low number of patients, this study showed that the implementation of the American Association of Respiratory Care 2010 endotracheal suctioning guidelines into practice helps to reduce procedural-induced pain. Therefore, training and continuing education are important for clinical staff performing tracheal suctioning.

Published
2016

42. Pisa syndrome in Parkinson's disease: demographic and clinical correlations in an Italian Multicenter study

Author

Juergenson, Ib, Geroin, C, Bombieri, F, Smania, N, Ottaviani, S: Bovi, Bisoffi, G, Mirandola, R, Canesi, M, Pezzoli, G, Ceravolo, R, Frosini, D, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sarchioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, Antonina Maria, Amadeo, G, Modugno, N, Zappia, M, Nicoletti, A, Volonte, Ma, Spagnolo, F, Sciaretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, Ng, Marconi, R, Gallerini, S, Mignarri, A, Allocca, R, Defazio, G, Morgante, F, Riccardi, L, Cannas, A, Solla, P, Vitale, C, Fasano, A, Barone, P, and Tinazzi, M.

Published
2014

43. Mutant COQ2 in multiple-system atrophy

Author

Sharma, M, Wenning, G, Krüger, R, European Multiple-System Atrophy Study Group (Sharma, M, Lichtner, P, Albanese, Donatella, Barone, P, Berciano, J, Bloem, Br, Coelho, M, Goldwurm, S, Infante, J, Klockgether, T, Ortega-Cubero, S, Del Sorbo, F, Pezzoli, G, Canesi, M, Tesei, S, Zecchinelli, A, Sacilotto, G, Meucci, N, Mariani, C, Cilia, R, Zini, M, Siri, C, Pellecchia, Mt, Picillo, M, Amboni, M, Schulte, C, Martí, Mj, Sampaio, C, Ferreira, J, Levin, J, Nilsson, Cf, Widner, H, Østergaard, K, Oertel, W, Pastor, P, Storch, A, Seppi, K, Geser, F, Krismer, F, Mahlknecht, P, Sprenger, Fs, Schöls, L, Tolosa, E, Wüllner, U, van de Warrenburg BP, Poewe, W, Gasser, T, and Krüger, R. ).

Subjects
Genetics, Male, Alkyl and Aryl Transferases, Parkinsonism, Copy number analysis, Locus (genetics), General Medicine, Odds ratio, Multiple System Atrophy, Biology, genetics [Alkyl and Aryl Transferases], medicine.disease, 3. Good health, Exon, Atrophy, Start codon, medicine, Humans, Female, ddc:610, genetics [Multiple System Atrophy], Gene
Abstract

To the Editor: Tsuji and colleagues (July 18 issue)1 report that variants in the gene encoding coenzyme Q2 (COQ2) increase the risk of multiple-system atrophy. They observed homozygous COQ2 variants encoding the substitutions M78V and V343A in a consanguineous Japanese family with multiple-system atrophy subtype P and noted an association between V343A and sporadic multiple-system atrophy (minor-allele frequency [MAF], 4.8% of cases vs. 1.6% of controls; odds ratio, 3.05; 95% confidence interval, 1.65 to 5.85). However, the authors erroneously labeled human COQ2 variability from the fourth ATG start codon in exon 1, which encodes the smallest protein isoform and does not functionally complement the yeast coq2-null mutant.2 On the basis of the National Center for Biotechnology Information (NCBI) Reference Sequence (NM_015697.7), M78V should be labeled COQ2 c.382A→G (p.M128V) and V343A should be labeled c.1178T→C (p.V393A). We sequenced COQ2 in 299 Korean persons with multiple-system atrophy and 365 unaffected Korean persons and observed heterozygous COQ2 c.320G→C (encoding p.S107T) and c.382A→T (encoding p.M128R) in 2 patients with sporadic multiple-system atrophy; COQ2 c.1178T→C (p.V393A) was not associated with multiple-system atrophy (MAF, 2.7% of cases vs. 2.6% of controls). It is a challenge to reconcile recessive linkage of homozygous COQ2 mutations in familial multiple-system atrophy with a heterozygous, presumably dominant-negative association in sporadic multiple-system atrophy. Respectfully, we suggest that Tsuji and colleagues reconsider whether variations in COQ2 represent a risk factor for multiple-system atrophy. Genomic multiplications of the SNCA 6.4-Mb locus telomeric to COQ2 have previously been implicated in parkinsonism and multiple-system atrophy3; copy number analysis of linked loci, or genomewide analysis, should be considered.

Published
2014
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44. Pisa Syndrome in Parkinson's disease: demographic and clinical correlations in a multicenter italian study

Author

Geroin, C, Tinazzi, M, Vitale, C, Bombieri, F, Juergenson, I, Smania, N, Schena, F, Ottaviani, S, Bisoffi, G, Mirandola, R, Canesi, M, Pezzoli, G, Ceravolo, R, Mazzucchi, S, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sarchioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, A, Amadeo, G, Modugno, N, Lena, F, Zappia, Mario, Nicoletti, Alessandra, Leocani, L, Volontè, A, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Fasano, A, and Barone, P.

Published
2014

46. Validation of the Italian version of Parkinson's disease-cognitive rating scale (PD-CRS)

Author

Santangelo, G., Barone, P., Abbruzzese, G., Ferini Strambi, L., Antonini, A, Bandettini, M., Fabbrini, G., Di Stasio, F., Tinazzi, M., Bovi, T., Ramat, S., Meoni, S., Pezzoli, G., Siri, C., Canesi, M., Martinelli, P., Scaglione, C. L., Rossi, A., Tambasco, N., Picillo, M., Morgante, Letterio, Morgante, Francesca, Quatrale, R., Sensi, M. C., Pilleri, M., Biundo, R., Nordera, G., Caria, A., Pacchetti, C., Zangaglia, R., Lopiano, L., Zibetti, M., Morgante, L., Morgante, F., Zappia, M., Nicoletti, A., Quattrone, A., Salsone, M., Cossu, G., Murgia, D., Albanese, A., Del Sorbo, F., Santangelo, Gabriella, Barone, Paolo, Abbruzzese, Giovanni, Ferini-strambi, Luigi, and Antonini, Angelo

Subjects
Male, medicine.medical_specialty, Parkinson's disease, Neurology, Dermatology, Audiology, Neuropsychological Tests, Cognition Disorder, Cognitive dysfunction, Rating scale, medicine, Dementia, Humans, Cognitive dysfunctions, Mild cognitive impairment, Parkinson's Disease Cognitive Rating Scale (PD-CRS), Aged, Cognition Disorders, Female, Italy, Middle Aged, Parkinson Disease, Neurology (clinical), Psychiatry and Mental Health, 2708, Psychiatry, Working memory, Cognition, General Medicine, medicine.disease, Confidence interval, Psychiatry and Mental health, Ceiling effect, Neuropsychological Test, Psychology, Human
Abstract

Cognitive impairment (CI) is a frequent feature associated with both early and advanced stages of Parkinson's disease (PD). An evaluation of cognitive functions is relevant to identify those parkinsonians at risk of developing dementia. In the present study, the Italian version of Parkinson's Disease-Cognitive Rating Scale (PD-CRS) assessing fronto-subcortical and cortical cognitive functions in PD was validated in 387 parkinsonians and was used to test the empirical validity of the item 1.1 (cognitive impairment) of the Italian version of MDS-UPDRS as screening tool for CI in PD. PD-CRS was free from floor and ceiling effect. The mean PD-CRS score was 76.1 (mean cortical score, 24.5 ± 4.6; mean subcortical score, 51.5 ± 17.5). The internal consistency was satisfactory (α = 0.89); corrected item-total correlation was 0.570 (naming) to 0.696 (working memory). The correlation between PD-CRS and part I-IV of MDS-UPDRS was weak. The low agreement between classification of PD sample into patients with mild cognitive impairment (PD-MCI), dementia (PD-D) and normal cognition (PD-NC) according to scores of item 1.1 and classification according to cutoff scores of PD-CRS for PD-MCI, PD-D and PD-NC indicated a poor empirical validity of item 1.1 of MDS-UPDRS as cognitive screening tool for CI in PD (Κ = 0.114; weighted Κ = 0.17; SE of Κ = 0.038; 95 % confidence interval from 0.040 to 0.1895). The Italian version of PD-CRS is an easy, consistent and valid tool for assessment of the cognitive cortical and subcortical impairments in PD. © 2013 Springer-Verlag.

Published
2013

47. Pisa syndrome in parkinson’s disease: demographic and clinical correlations in a multi center italian study

Author

Tinazzi, M, Juergenson, I, Bombieri, F, Schena, F, Ottaviani, S, Bovi, T, Bisoffi, G, Uniati, C, Canesi, M, Pezzoli, G, Ceravolo, R, Frosini, D, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sachioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, A, Amadeo, G, Modugmo, N, Lena, F, Zappia, Mario, Raciti, L, Nicoletti, Alessandra, Volontè, M, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Mignarri, A, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Vitale, C, Fasano, A, and Barone, P.

Published
2013

50. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Author

Höglinger, GU, Melhem, NM, Dickson, DW, Sleiman, PMA, Wang, LS, Klei, L, Rademakers, R, De Silva, R, Litvan, I, Riley, DE, Van Swieten, JC, Heutink, P, Wszolek, ZK, Uitti, RJ, Vandrovcova, J, Hurtig, HI, Gross, RG, Maetzler, W, Goldwurm, S, Tolosa, E, Borroni, B, Pastor, P, Cantwell, LB, Han, MR, Dillman, A, Van Der Brug, MP, Gibbs, JR, Cookson, MR, Hernandez, DG, Singleton, AB, Farrer, MJ, Yu, CE, Golbe, LI, Revesz, T, Hardy, J, Lees, AJ, Devlin, B, Hakonarson, H, Müller, U, Schellenberg, GD, Albin, RL, Alonso, E, Antonini, A, Apfelbacher, M, Arnold, SE, Avila, J, Beach, TG, Beecher, S, Berg, D, Bird, TD, Bogdanovic, N, Boon, AJW, Bordelon, Y, Brice, A, Budka, H, Canesi, M, Chiu, WZ, Cilia, R, Colosimo, C, De Deyn, PP, De Yebenes, JG, Kaat, LD, Duara, R, Durr, A, Engelborghs, S, Fabbrini, G, Finch, NA, Flook, R, Frosch, MP, Gaig, C, Galasko, DR, Gasser, T, Gearing, M, Geller, ET, Ghetti, B, Graff-Radford, NR, Grossman, M, Hall, DA, Hazrati, LN, Höllerhage, M, Jankovic, J, Juncos, JL, Karydas, A, Kretzschmar, HA, and Leber, I

Subjects
eye diseases
Abstract

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10-3. We found significant previously unidentified signals (P < 5 × 10-8) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. © 2011 Nature America, Inc. All rights reserved.

Published
2011
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