Anna Bersano1, Gloria Bedini2, Sara Nava2, Francesco Acerbi3, Davide Rossi Sebastiano4, Simona Binelli4, Silvana Franceschetti4, Giuseppe Faragò5, Marina Grisoli6, Andrea Gioppo5, Paolo Ferroli3, Maria Grazia Bruzzone6, Daria Riva7, Elisa Ciceri6, Chiara Pantaleoni7, Veronica Saletti7, Silvia Esposito7, Nardo Nardocci8, Federica Zibordi8, Luigi Caputi9, Stefania Bianchi Marzoli10, Maria Luisa Zedde11, Marco Pavanello12, Alessandro Raso12, Valeria Capra12, Leonardo Pantoni13, Cristina Sarti14, Alessandro Pezzini15, Filomena Caria15, Maria Luisa Dell' Acqua16, Andrea Zini16, Claudio Baracchini17, Filippo Farina17, Sandro Sanguigni18, Maria Luisa De Lodovici19, Giorgio Bono19, Fioravanti Capone20, Vincenzo Di Lazzaro20, Silvia Lanfranconi21, Massimiliano Toscano22, Vittorio Di Piero22, Simona Sacco23, Antonio Carolei23, Danilo Toni22, Maurizio Paciaroni24, Valeria Caso24, Patrizia Perrone25, Maria Vittoria Calloni25, Alfredo Romani26, Marco Cenzato27, Alessia Fratianni27, Emilio Ciusani28, Paolo Prontera29, Elisabeth Tournier Lasserve30, Kinga Blecharz31, Peter Vajkoczy31, Eugenio Agostino Parati9. 1. Cerebrovascular Unit, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy. anna.bersano@gmail.com. 2. Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 3. Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 4. Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 5. Diagnostic Imaging Department & Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 6. Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 7. Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 8. Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 9. Cerebrovascular Unit, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy. 10. Neuropthalmologic Unit, IRCCS Istituto Auxologico, Milan, Italy. 11. Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy. 12. Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy. 13. L.Sacco Department of Biomedical and Clinical Science, University of Milan, Milan, Italy. 14. NEUROFARBA Department Neuroscience Section, University of Florence, Florence, Italy. 15. Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy. 16. Stroke Unit, Nuovo Ospedale Civile S Agostino Estense, University Hospital of Modena, Modena, Italy. 17. Stroke Unit and Neurosonology Laboratory, Department of Neurological Sciences, University of Padua School of Medicine, Padua, Italy. 18. Department of Neurology, General Hospital Madonna del Soccorso, San Benedetto del Tronto, Italy. 19. Stroke Unit Circolo Hospital and Macchi Foundation, Varese Hospital, Varese, Italy. 20. Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 200, 00128, Rome, Italy. 21. Department of Neuroscience and Sensory Organs, Neurology Unit, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy. 22. Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. 23. Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy. 24. Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Perugia, Italy. 25. Stroke Unit Legnano Hospital ASST Ovest Milanese, Legnano, Italy. 26. IRCCS Foundation C. Mondino Neurological Institute, Pavia, Italy. 27. Department of Neurosurgery, Niguarda Cà Granda Hospital, Milan, Italy. 28. Laboratory of Clinical Investigations, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 29. Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia, Italy. 30. Inserm UMR-S1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. 31. Department of Neurosurgery, Charite Universitätsmedizin, Berlin, Germany.
Abstract
BACKGROUND: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. METHODS: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. RESULTS: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. CONCLUSION: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.
BACKGROUND: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. METHODS: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. RESULTS: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. CONCLUSION: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.
Authors: Ignazio G Vetrano; Anna Bersano; Isabella Canavero; Francesco Restelli; Gabriella Raccuia; Elisa F Ciceri; Giuseppe Faragò; Andrea Gioppo; Morgan Broggi; Marco Schiariti; Laura Gatti; Paolo Ferroli; Francesco Acerbi Journal: J Clin Med Date: 2021-05-25 Impact factor: 4.241
Authors: Francesca Tinelli; Sara Nava; Francesco Arioli; Gloria Bedini; Emma Scelzo; Daniela Lisini; Giuseppe Faragò; Andrea Gioppo; Elisa F Ciceri; Francesco Acerbi; Paolo Ferroli; Ignazio G Vetrano; Silvia Esposito; Veronica Saletti; Chiara Pantaleoni; Federica Zibordi; Nardo Nardocci; Maria Luisa Zedde; Alessandro Pezzini; Vincenzo Di Lazzaro; Fioravante Capone; Maria Luisa Dell'Acqua; Peter Vajkoczy; Elisabeth Tournier-Lasserve; Eugenio A Parati; Anna Bersano; Laura Gatti Journal: Int J Mol Sci Date: 2020-08-11 Impact factor: 5.923