GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.

Autor: Bersano A; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy. anna.bersano@gmail.com., Bedini G; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nava S; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Acerbi F; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sebastiano DR; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Binelli S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Franceschetti S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Faragò G; Diagnostic Imaging Department & Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Grisoli M; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Gioppo A; Diagnostic Imaging Department & Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ferroli P; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bruzzone MG; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Riva D; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ciceri E; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pantaleoni C; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Saletti V; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Esposito S; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nardocci N; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Zibordi F; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Caputi L; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy., Marzoli SB; Neuropthalmologic Unit, IRCCS Istituto Auxologico, Milan, Italy., Zedde ML; Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Pavanello M; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy., Raso A; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy., Capra V; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy., Pantoni L; L.Sacco Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Sarti C; NEUROFARBA Department Neuroscience Section, University of Florence, Florence, Italy., Pezzini A; Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy., Caria F; Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy., Dell' Acqua ML; Stroke Unit, Nuovo Ospedale Civile S Agostino Estense, University Hospital of Modena, Modena, Italy., Zini A; Stroke Unit, Nuovo Ospedale Civile S Agostino Estense, University Hospital of Modena, Modena, Italy., Baracchini C; Stroke Unit and Neurosonology Laboratory, Department of Neurological Sciences, University of Padua School of Medicine, Padua, Italy., Farina F; Stroke Unit and Neurosonology Laboratory, Department of Neurological Sciences, University of Padua School of Medicine, Padua, Italy., Sanguigni S; Department of Neurology, General Hospital Madonna del Soccorso, San Benedetto del Tronto, Italy., De Lodovici ML; Stroke Unit Circolo Hospital and Macchi Foundation, Varese Hospital, Varese, Italy., Bono G; Stroke Unit Circolo Hospital and Macchi Foundation, Varese Hospital, Varese, Italy., Capone F; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 200, 00128, Rome, Italy., Di Lazzaro V; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 200, 00128, Rome, Italy., Lanfranconi S; Department of Neuroscience and Sensory Organs, Neurology Unit, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy., Toscano M; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Di Piero V; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Sacco S; Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy., Carolei A; Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy., Toni D; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Paciaroni M; Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Perugia, Italy., Caso V; Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Perugia, Italy., Perrone P; Stroke Unit Legnano Hospital ASST Ovest Milanese, Legnano, Italy., Calloni MV; Stroke Unit Legnano Hospital ASST Ovest Milanese, Legnano, Italy., Romani A; IRCCS Foundation C. Mondino Neurological Institute, Pavia, Italy., Cenzato M; Department of Neurosurgery, Niguarda Cà Granda Hospital, Milan, Italy., Fratianni A; Department of Neurosurgery, Niguarda Cà Granda Hospital, Milan, Italy., Ciusani E; Laboratory of Clinical Investigations, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Prontera P; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia, Italy., Lasserve ET; Inserm UMR-S1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Blecharz K; Department of Neurosurgery, Charite Universitätsmedizin, Berlin, Germany., Vajkoczy P; Department of Neurosurgery, Charite Universitätsmedizin, Berlin, Germany., Parati EA; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy.
Jazyk: angličtina
Zdroj: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Mar; Vol. 40 (3), pp. 561-570. Date of Electronic Publication: 2019 Jan 03.
DOI: 10.1007/s10072-018-3664-z
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje