Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Anna Bersano, H. S. Markus, S. Quaglini, Eloisa Arbustini, Silvia Lanfranconi, Giuseppe Micieli, Giorgio Battista Boncoraglio, Franco Taroni, Cinzia Gellera, Silvia Baratta, S. Penco, Lorena Mosca, Maurizia Grasso, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Stefania Paola Corti, Dario Ronchi, Maria Teresa BassiLaura Piera Obici, Eugenio Agostino Parati, A. Pezzini, Maria Luisa De Lodovici, Elena P. Verrengia, Giorgio Bono, Francesca Mazucchelli, D. Zarcone, Maria Vittoria Calloni, Patrizia Perrone, B. M. Bordo, Antonio Colombo, A. Padovani, A. Cavallini, Simone Beretta, Carlo Ferrarese, Cristina Motto, Elio Agostoni, Graziella Molini, F. Sasanelli, Manuel Corato, Simona Marcheselli, Maria Sessa, Giancarlo Comi, N. Checcarelli, Mario Guidotti, Davide Uccellini, Erminio Capitani, L. Tancredi, M. Arnaboldi, B. Incorvaia, Carlo Sebastiano Tadeo, Laura Fusi, G. Grampa, Giampaolo Merlini, Nadia Trobia, Giacomo Pietro Comi, M. Braga, Paolo Vitali, Pierluigi Baron, Caspar Grond-Ginsbach, L. Candelise

Research output: Contribution to journalArticle

Abstract

Background and Purpose - Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease Methods - We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of

Original languageEnglish
Pages (from-to)1702-1709
Number of pages8
JournalStroke
Volume47
Issue number7
DOIs
Publication statusPublished - Jul 1 2016

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Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL
MELAS Syndrome
Fabry Disease
Marfan Syndrome
Multicenter Studies
Prospective Studies
Genes

Keywords

  • CADASIL
  • cerebral amyloid angiopathy, familial
  • Fabry disease
  • genetics
  • Marfan syndrome
  • MELAS syndrome
  • stroke

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine
  • Advanced and Specialised Nursing

Cite this

Clinical pregenetic screening for stroke monogenic diseases : Results from lombardia GENS registry. / Bersano, Anna; Markus, H. S.; Quaglini, S.; Arbustini, Eloisa; Lanfranconi, Silvia; Micieli, Giuseppe; Boncoraglio, Giorgio Battista; Taroni, Franco; Gellera, Cinzia; Baratta, Silvia; Penco, S.; Mosca, Lorena; Grasso, Maurizia; Carrera, Paola; Ferrari, Maurizio; Cereda, Cristina; Grieco, Gaetano; Corti, Stefania Paola; Ronchi, Dario; Bassi, Maria Teresa; Obici, Laura Piera; Parati, Eugenio Agostino; Pezzini, A.; De Lodovici, Maria Luisa; Verrengia, Elena P.; Bono, Giorgio; Mazucchelli, Francesca; Zarcone, D.; Calloni, Maria Vittoria; Perrone, Patrizia; Bordo, B. M.; Colombo, Antonio; Padovani, A.; Cavallini, A.; Beretta, Simone; Ferrarese, Carlo; Motto, Cristina; Agostoni, Elio; Molini, Graziella; Sasanelli, F.; Corato, Manuel; Marcheselli, Simona; Sessa, Maria; Comi, Giancarlo; Checcarelli, N.; Guidotti, Mario; Uccellini, Davide; Capitani, Erminio; Tancredi, L.; Arnaboldi, M.; Incorvaia, B.; Tadeo, Carlo Sebastiano; Fusi, Laura; Grampa, G.; Merlini, Giampaolo; Trobia, Nadia; Comi, Giacomo Pietro; Braga, M.; Vitali, Paolo; Baron, Pierluigi; Grond-Ginsbach, Caspar; Candelise, L.

In: Stroke, Vol. 47, No. 7, 01.07.2016, p. 1702-1709.

Research output: Contribution to journalArticle

Bersano, A, Markus, HS, Quaglini, S, Arbustini, E, Lanfranconi, S, Micieli, G, Boncoraglio, GB, Taroni, F, Gellera, C, Baratta, S, Penco, S, Mosca, L, Grasso, M, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Corti, SP, Ronchi, D, Bassi, MT, Obici, LP, Parati, EA, Pezzini, A, De Lodovici, ML, Verrengia, EP, Bono, G, Mazucchelli, F, Zarcone, D, Calloni, MV, Perrone, P, Bordo, BM, Colombo, A, Padovani, A, Cavallini, A, Beretta, S, Ferrarese, C, Motto, C, Agostoni, E, Molini, G, Sasanelli, F, Corato, M, Marcheselli, S, Sessa, M, Comi, G, Checcarelli, N, Guidotti, M, Uccellini, D, Capitani, E, Tancredi, L, Arnaboldi, M, Incorvaia, B, Tadeo, CS, Fusi, L, Grampa, G, Merlini, G, Trobia, N, Comi, GP, Braga, M, Vitali, P, Baron, P, Grond-Ginsbach, C & Candelise, L 2016, 'Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry', Stroke, vol. 47, no. 7, pp. 1702-1709. https://doi.org/10.1161/STROKEAHA.115.012281
Bersano, Anna ; Markus, H. S. ; Quaglini, S. ; Arbustini, Eloisa ; Lanfranconi, Silvia ; Micieli, Giuseppe ; Boncoraglio, Giorgio Battista ; Taroni, Franco ; Gellera, Cinzia ; Baratta, Silvia ; Penco, S. ; Mosca, Lorena ; Grasso, Maurizia ; Carrera, Paola ; Ferrari, Maurizio ; Cereda, Cristina ; Grieco, Gaetano ; Corti, Stefania Paola ; Ronchi, Dario ; Bassi, Maria Teresa ; Obici, Laura Piera ; Parati, Eugenio Agostino ; Pezzini, A. ; De Lodovici, Maria Luisa ; Verrengia, Elena P. ; Bono, Giorgio ; Mazucchelli, Francesca ; Zarcone, D. ; Calloni, Maria Vittoria ; Perrone, Patrizia ; Bordo, B. M. ; Colombo, Antonio ; Padovani, A. ; Cavallini, A. ; Beretta, Simone ; Ferrarese, Carlo ; Motto, Cristina ; Agostoni, Elio ; Molini, Graziella ; Sasanelli, F. ; Corato, Manuel ; Marcheselli, Simona ; Sessa, Maria ; Comi, Giancarlo ; Checcarelli, N. ; Guidotti, Mario ; Uccellini, Davide ; Capitani, Erminio ; Tancredi, L. ; Arnaboldi, M. ; Incorvaia, B. ; Tadeo, Carlo Sebastiano ; Fusi, Laura ; Grampa, G. ; Merlini, Giampaolo ; Trobia, Nadia ; Comi, Giacomo Pietro ; Braga, M. ; Vitali, Paolo ; Baron, Pierluigi ; Grond-Ginsbach, Caspar ; Candelise, L. / Clinical pregenetic screening for stroke monogenic diseases : Results from lombardia GENS registry. In: Stroke. 2016 ; Vol. 47, No. 7. pp. 1702-1709.
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AU - Markus, H. S.

AU - Quaglini, S.

AU - Arbustini, Eloisa

AU - Lanfranconi, Silvia

AU - Micieli, Giuseppe

AU - Boncoraglio, Giorgio Battista

AU - Taroni, Franco

AU - Gellera, Cinzia

AU - Baratta, Silvia

AU - Penco, S.

AU - Mosca, Lorena

AU - Grasso, Maurizia

AU - Carrera, Paola

AU - Ferrari, Maurizio

AU - Cereda, Cristina

AU - Grieco, Gaetano

AU - Corti, Stefania Paola

AU - Ronchi, Dario

AU - Bassi, Maria Teresa

AU - Obici, Laura Piera

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AU - De Lodovici, Maria Luisa

AU - Verrengia, Elena P.

AU - Bono, Giorgio

AU - Mazucchelli, Francesca

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AU - Calloni, Maria Vittoria

AU - Perrone, Patrizia

AU - Bordo, B. M.

AU - Colombo, Antonio

AU - Padovani, A.

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AU - Beretta, Simone

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AU - Motto, Cristina

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AU - Molini, Graziella

AU - Sasanelli, F.

AU - Corato, Manuel

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AU - Sessa, Maria

AU - Comi, Giancarlo

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AU - Incorvaia, B.

AU - Tadeo, Carlo Sebastiano

AU - Fusi, Laura

AU - Grampa, G.

AU - Merlini, Giampaolo

AU - Trobia, Nadia

AU - Comi, Giacomo Pietro

AU - Braga, M.

AU - Vitali, Paolo

AU - Baron, Pierluigi

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AU - Candelise, L.

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KW - cerebral amyloid angiopathy, familial

KW - Fabry disease

KW - genetics

KW - Marfan syndrome

KW - MELAS syndrome

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