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

  • Anna BersanoEmail author
  • 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
Original Article
  • 68 Downloads

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.

Keywords

Moyamoya disease Network Markers Endothelial progenitor cells Genetics 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  • Anna Bersano
    • 1
    Email author return OK on get
  • Gloria Bedini
    • 2
  • Sara Nava
    • 2
  • Francesco Acerbi
    • 3
  • Davide Rossi Sebastiano
    • 4
  • Simona Binelli
    • 4
  • Silvana Franceschetti
    • 4
  • Giuseppe Faragò
    • 5
  • Marina Grisoli
    • 6
  • Andrea Gioppo
    • 5
  • Paolo Ferroli
    • 3
  • Maria Grazia Bruzzone
    • 6
  • Daria Riva
    • 7
  • Elisa Ciceri
    • 6
  • Chiara Pantaleoni
    • 7
  • Veronica Saletti
    • 7
  • Silvia Esposito
    • 7
  • Nardo Nardocci
    • 8
  • Federica Zibordi
    • 8
  • Luigi Caputi
    • 1
  • Stefania Bianchi Marzoli
    • 9
  • Maria Luisa Zedde
    • 10
  • Marco Pavanello
    • 11
  • Alessandro Raso
    • 11
  • Valeria Capra
    • 11
  • Leonardo Pantoni
    • 12
  • Cristina Sarti
    • 13
  • Alessandro Pezzini
    • 14
  • Filomena Caria
    • 14
  • Maria Luisa Dell’ Acqua
    • 15
  • Andrea Zini
    • 15
  • Claudio Baracchini
    • 16
  • Filippo Farina
    • 16
  • Sandro Sanguigni
    • 17
  • Maria Luisa De Lodovici
    • 18
  • Giorgio Bono
    • 18
  • Fioravanti Capone
    • 19
  • Vincenzo Di Lazzaro
    • 19
  • Silvia Lanfranconi
    • 20
  • Massimiliano Toscano
    • 21
  • Vittorio Di Piero
    • 21
  • Simona Sacco
    • 22
  • Antonio Carolei
    • 22
  • Danilo Toni
    • 21
  • Maurizio Paciaroni
    • 23
  • Valeria Caso
    • 23
  • Patrizia Perrone
    • 24
  • Maria Vittoria Calloni
    • 24
  • Alfredo Romani
    • 25
  • Marco Cenzato
    • 26
  • Alessia Fratianni
    • 26
  • Emilio Ciusani
    • 27
  • Paolo Prontera
    • 28
  • Elisabeth Tournier Lasserve
    • 29
  • Kinga Blecharz
    • 30
  • Peter Vajkoczy
    • 30
  • Eugenio Agostino Parati
    • 1
  • on behalf of GEN-O-MA study group
  1. 1.Cerebrovascular UnitNeurological Institute “C. Besta” IRCCS FoundationMilanItaly
  2. 2.Laboratory of Cellular NeurobiologyFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  3. 3.Neurosurgical UnitFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  4. 4.Neurophysiopathology Department and Epilepsy CentreFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  5. 5.Diagnostic Imaging Department & Interventional NeuroradiologyFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  6. 6.Neuroradiological UnitFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  7. 7.Developmental Neurology DivisionFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  8. 8.Department of Child NeurologyFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  9. 9.Neuropthalmologic UnitIRCCS Istituto AuxologicoMilanItaly
  10. 10.Neurology Unit, Stroke UnitAzienda Unità Sanitaria Locale-IRCCS di Reggio EmiliaReggio EmiliaItaly
  11. 11.Neurosurgery UnitIstituto Giannina GasliniGenoaItaly
  12. 12.L.Sacco Department of Biomedical and Clinical ScienceUniversity of MilanMilanItaly
  13. 13.NEUROFARBA Department Neuroscience SectionUniversity of FlorenceFlorenceItaly
  14. 14.Department of Clinical and Experimental Sciences, Neurology ClinicUniversity of BresciaBresciaItaly
  15. 15.Stroke Unit, Nuovo Ospedale Civile S Agostino EstenseUniversity Hospital of ModenaModenaItaly
  16. 16.Stroke Unit and Neurosonology Laboratory, Department of Neurological SciencesUniversity of Padua School of MedicinePaduaItaly
  17. 17.Department of NeurologyGeneral Hospital Madonna del SoccorsoSan Benedetto del TrontoItaly
  18. 18.Stroke Unit Circolo Hospital and Macchi FoundationVarese HospitalVareseItaly
  19. 19.Unit of Neurology, Neurophysiology, Neurobiology, Department of MedicineUniversità Campus Bio-Medico di RomaRomeItaly
  20. 20.Department of Neuroscience and Sensory Organs, Neurology UnitMaggiore Policlinico Hospital Foundation IRCCS Ca’ GrandaMilanItaly
  21. 21.Department of Neurology and PsychiatrySapienza University of RomeRomeItaly
  22. 22.Department of Neurology, Avezzano HospitalUniversity of L’AquilaL’AquilaItaly
  23. 23.Stroke Unit and Division of Cardiovascular MedicineUniversity of PerugiaPerugiaItaly
  24. 24.Stroke Unit Legnano Hospital ASST Ovest MilaneseLegnanoItaly
  25. 25.IRCCS Foundation C. Mondino Neurological InstitutePaviaItaly
  26. 26.Department of NeurosurgeryNiguarda Cà Granda HospitalMilanItaly
  27. 27.Laboratory of Clinical InvestigationsFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  28. 28.Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic UnitOspedale S. Maria della MisericordiaPerugiaItaly
  29. 29.Inserm UMR-S1161, Génétique et Physiopathologie des Maladies Cérébro-vasculairesUniversité Paris DiderotParisFrance
  30. 30.Department of NeurosurgeryCharite UniversitätsmedizinBerlinGermany

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