TY - JOUR
T1 - GEN-O-MA project
T2 - an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results
AU - GEN-O-MA study group
AU - Bersano, Anna
AU - Bedini, Gloria
AU - Nava, Sara
AU - Acerbi, Francesco
AU - Sebastiano, Davide Rossi
AU - Binelli, Simona
AU - Franceschetti, Silvana
AU - Faragò, Giuseppe
AU - Grisoli, Marina
AU - Gioppo, Andrea
AU - Ferroli, Paolo
AU - Bruzzone, Maria Grazia
AU - Riva, Daria
AU - Ciceri, Elisa
AU - Pantaleoni, Chiara
AU - Saletti, Veronica
AU - Esposito, Silvia
AU - Nardocci, Nardo
AU - Zibordi, Federica
AU - Caputi, Luigi
AU - Marzoli, Stefania Bianchi
AU - Zedde, Maria Luisa
AU - Pavanello, Marco
AU - Raso, Alessandro
AU - Capra, Valeria
AU - Pantoni, Leonardo
AU - Sarti, Cristina
AU - Pezzini, Alessandro
AU - Caria, Filomena
AU - Dell' Acqua, Maria Luisa
AU - Zini, Andrea
AU - Baracchini, Claudio
AU - Farina, Filippo
AU - Sanguigni, Sandro
AU - De Lodovici, Maria Luisa
AU - Bono, Giorgio
AU - Capone, Fioravanti
AU - Di Lazzaro, Vincenzo
AU - Lanfranconi, Silvia
AU - Toscano, Massimiliano
AU - Di Piero, Vittorio
AU - Sacco, Simona
AU - Carolei, Antonio
AU - Toni, Danilo
AU - Paciaroni, Maurizio
AU - Caso, Valeria
AU - Perrone, Patrizia
AU - Calloni, Maria Vittoria
AU - Romani, Alfredo
AU - Cenzato, Marco
PY - 2019/3
Y1 - 2019/3
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Aged
KW - Brain Ischemia/complications
KW - Child
KW - Child, Preschool
KW - Community Networks/statistics & numerical data
KW - Disease Progression
KW - Female
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Italy
KW - Male
KW - Middle Aged
KW - Moyamoya Disease/diagnostic imaging
KW - Neuroimaging
KW - Phenotype
KW - Retrospective Studies
KW - Stroke/complications
KW - Young Adult
U2 - 10.1007/s10072-018-3664-z
DO - 10.1007/s10072-018-3664-z
M3 - Article
C2 - 30604336
VL - 40
SP - 561
EP - 570
JO - Neurol. Sci.
JF - Neurol. Sci.
SN - 1590-1874
IS - 3
ER -