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

被引：13

作者：

Bersano, Anna ^{[1
]}

Bedini, Gloria ^{[2
]}

Nava, Sara ^{[3
]}

Acerbi, Francesco ^{[3
]}

Sebastiano, Davide Rossi ^{[4
]}

Binelli, Simona ^{[4
]}

Franceschetti, Silvana ^{[4
]}

Farago, Giuseppe ^{[5
,6
]}

Grisoli, Marina ^{[7
]}

Gioppo, Andrea ^{[5
,6
]}

Ferroli, Paolo ^{[3
]}

Bruzzone, Maria Grazia ^{[7
]}

Riva, Daria ^{[8
]}

Ciceri, Elisa ^{[7
]}

Pantaleoni, Chiara ^{[8
]}

Saletti, Veronica ^{[8
]}

Esposito, Silvia ^{[8
]}

Nardocci, Nardo ^{[9
]}

Zibordi, Federica ^{[9
]}

Caputi, Luigi ^{[1
]}

Marzoli, Stefania Bianchi ^{[10
]}

Zedde, Maria Luisa ^{[11
]}

Pavanello, Marco ^{[12
]}

Raso, Alessandro ^{[12
]}

Capra, Valeria ^{[12
]}

Pantoni, Leonardo ^{[13
]}

Sarti, Cristina ^{[14
]}

Pezzini, Alessandro ^{[15
]}

Caria, Filomena ^{[15
]}

Dell' Acqua, Maria Luisa ^{[16
]}

Zini, Andrea ^{[16
]}

Baracchini, Claudio ^{[17
,18
]}

Farina, Filippo ^{[17
,18
]}

Sanguigni, Sandro ^{[19
]}

De Lodovici, Maria Luisa ^{[20
,21
]}

Bono, Giorgio ^{[20
,21
]}

Capone, Fioravanti ^{[22
]}

Di Lazzaro, Vincenzo ^{[22
]}

Lanfranconi, Silvia ^{[23
]}

Toscano, Massimiliano ^{[24
]}

Di Piero, Vittorio ^{[24
]}

Sacco, Simona ^{[25
]}

Carolei, Antonio ^{[25
]}

Toni, Danilo ^{[24
]}

Paciaroni, Maurizio ^{[26
,27
]}

Caso, Valeria ^{[26
,27
]}

Perrone, Patrizia ^{[28
]}

Calloni, Maria Vittoria ^{[28
]}

Romani, Alfredo ^{[29
]}

Cenzato, Marco ^{[30
]}

机构：

[1] Neurol Inst C Besta IRCCS Fdn, Cerebrovasc Unit, Milan, Italy

[2] Fdn IRCCS Ist Neurol Carlo Besta, Lab Cellular Neurobiol, Milan, Italy

[3] Fdn IRCCS Ist Neurol Carlo Besta, Neurosurg Unit, Milan, Italy

[4] Fdn IRCCS Ist Neurol Carlo Besta, Neurophysiopathol Dept & Epilepsy Ctr, Milan, Italy

[5] Fdn IRCCS Ist Neurol Carlo Besta, Diagnost Imaging Dept, Milan, Italy

[6] Fdn IRCCS Ist Neurol Carlo Besta, Intervent Neuroradiol, Milan, Italy

[7] Fdn IRCCS Ist Neurol Carlo Besta, Neuroradiol Unit, Milan, Italy

[8] Fdn IRCCS Ist Neurol Carlo Besta, Dev Neurol Div, Milan, Italy

[9] Fdn IRCCS Ist Neurol Carlo Besta, Dept Child Neurol, Milan, Italy

[10] IRCCS Ist Auxol, Neuropthalmol Unit, Milan, Italy

[11] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Stroke Unit, Neurol Unit, Reggio Emilia, Italy

[12] Ist Giannina Gaslini, Neurosurg Unit, Genoa, Italy

[13] Univ Milan, L Sacco Dept Biomed & Clin Sci, Milan, Italy

[14] Univ Florence, Dept Neurosci Sect, NEUROFARBA, Florence, Italy

[15] Univ Brescia, Dept Clin & Expt Sci, Neurol Clin, Brescia, Italy

[16] Univ Hosp Modena, Nuovo Osped Civile S Agostino Estense, Stroke Unit, Modena, Italy

[17] Univ Padua, Sch Med, Stroke Unit, Padua, Italy

[18] Univ Padua, Sch Med, Neurosonol Lab, Dept Neurol Sci, Padua, Italy

[19] Gen Hosp Madonna Soccorso, Dept Neurol, San Benedetto Tronto, Italy

[20] Circolo Hosp, Stroke Unit, Varese, Italy

[21] Varese Hosp, Macchi Fdn, Varese, Italy

[22] Univ Campus Biomed Roma, Unit Neurol, Neurophysiol, Neurobiol,Dept Med, Via Alvaro Portillo 200, I-00128 Rome, Italy

[23] IRCCS Ca Granda, Maggiore Policlin, Hosp Fdn, Dept Neurosci & Sensory Organs,Neurol Unit, Milan, Italy

[24] Sapienza Univ Rome, Dept Neurol & Psychiat, Rome, Italy

[25] Univ Aquila, Avezzano Hosp, Dept Neurol, Laquila, Italy

[26] Univ Perugia, Stroke Unit, Perugia, Italy

[27] Univ Perugia, Div Cardiovasc Med, Perugia, Italy

[28] Legnano Hosp ASST Ovest Milanese, Stroke Unit, Legnano, Italy

[29] IRCCS Fdn C Mondino, Neurol Inst, Pavia, Italy

[30] Osped Niguarda Ca Granda, Dept Neurosurg, Milan, Italy

[31] Fdn IRCCS Ist Neurol Carlo Besta, Lab Clin Invest, Milan, Italy

[32] Osped S Maria Misericordia, Med Genet Unit, Neonatol Unit & Prenatal Diag PP, Perugia, Italy

[33] Univ Paris Diderot, Sorbonne Paris Cite, INSERM, UMR Genet & Physiopathol Malad Cerebrovasc S1161, Paris, France

[34] Charite, Dept Neurosurg, Berlin, Germany

来源：

NEUROLOGICAL SCIENCES | 2019年 / 40卷 / 03期

关键词：

Moyamoya disease; Network; Markers; Endothelial progenitor cells; Genetics; FEATURES; COLLATERALS; CELLS; LEADS;

D O I：

10.1007/s10072-018-3664-z

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 biorepository 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.

引用

页码：561 / 570

页数：10

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