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Neurological Sciences
Published in: Neurological Sciences 3/2019

01-03-2019 | Original Article

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

Authors: Anna Bersano, Gloria Bedini, Sara Nava, Francesco Acerbi, Davide Rossi Sebastiano, Simona Binelli, Silvana Franceschetti, Giuseppe Faragò, Marina Grisoli, Andrea Gioppo, Paolo Ferroli, Maria Grazia Bruzzone, Daria Riva, Elisa Ciceri, Chiara Pantaleoni, Veronica Saletti, Silvia Esposito, Nardo Nardocci, Federica Zibordi, Luigi Caputi, Stefania Bianchi Marzoli, Maria Luisa Zedde, Marco Pavanello, Alessandro Raso, Valeria Capra, Leonardo Pantoni, Cristina Sarti, Alessandro Pezzini, Filomena Caria, Maria Luisa Dell’ Acqua, Andrea Zini, Claudio Baracchini, Filippo Farina, Sandro Sanguigni, Maria Luisa De Lodovici, Giorgio Bono, Fioravanti Capone, Vincenzo Di Lazzaro, Silvia Lanfranconi, Massimiliano Toscano, Vittorio Di Piero, Simona Sacco, Antonio Carolei, Danilo Toni, Maurizio Paciaroni, Valeria Caso, Patrizia Perrone, Maria Vittoria Calloni, Alfredo Romani, Marco Cenzato, Alessia Fratianni, Emilio Ciusani, Paolo Prontera, Elisabeth Tournier Lasserve, Kinga Blecharz, Peter Vajkoczy, Eugenio Agostino Parati, on behalf of GEN-O-MA study group

Published in: Neurological Sciences | Issue 3/2019

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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.
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Metadata
Title
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results
Authors
Anna Bersano
Gloria Bedini
Sara Nava
Francesco Acerbi
Davide Rossi Sebastiano
Simona Binelli
Silvana Franceschetti
Giuseppe Faragò
Marina Grisoli
Andrea Gioppo
Paolo Ferroli
Maria Grazia Bruzzone
Daria Riva
Elisa Ciceri
Chiara Pantaleoni
Veronica Saletti
Silvia Esposito
Nardo Nardocci
Federica Zibordi
Luigi Caputi
Stefania Bianchi Marzoli
Maria Luisa Zedde
Marco Pavanello
Alessandro Raso
Valeria Capra
Leonardo Pantoni
Cristina Sarti
Alessandro Pezzini
Filomena Caria
Maria Luisa Dell’ Acqua
Andrea Zini
Claudio Baracchini
Filippo Farina
Sandro Sanguigni
Maria Luisa De Lodovici
Giorgio Bono
Fioravanti Capone
Vincenzo Di Lazzaro
Silvia Lanfranconi
Massimiliano Toscano
Vittorio Di Piero
Simona Sacco
Antonio Carolei
Danilo Toni
Maurizio Paciaroni
Valeria Caso
Patrizia Perrone
Maria Vittoria Calloni
Alfredo Romani
Marco Cenzato
Alessia Fratianni
Emilio Ciusani
Paolo Prontera
Elisabeth Tournier Lasserve
Kinga Blecharz
Peter Vajkoczy
Eugenio Agostino Parati
on behalf of GEN-O-MA study group
Publication date
01-03-2019
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 3/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-018-3664-z

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