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1. The role of clinical and neuroimaging features in the diagnosis of CADASIL

Author

Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Bersano, Anna, BEDINI, GLORIA, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, FERRARI, MAURIZIO, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, CORATO, MANUEL, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Bersano, Anna, BEDINI, GLORIA, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, FERRARI, MAURIZIO, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, CORATO, MANUEL, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, and Ginsbach, Caspar Grond

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. Results: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Published
2018

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

Author

Bersano, A, Markus, H, Quaglini, S, Arbustini, E, Lanfranconi, S, Micieli, G, Boncoraglio, G, Taroni, F, Gellera, C, Baratta, S, Penco, S, Mosca, L, Grasso, M, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Corti, S, Ronchi, D, Bassi, M, Obici, L, Parati, E, Pezzini, A, De Lodovici, M, Verrengia, E, Bono, G, Mazucchelli, F, Zarcone, D, Calloni, M, Perrone, P, Bordo, B, 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, C, Fusi, L, Grampa, G, Merlini, G, Trobia, N, Braga, M, Vitali, P, Baron, P, Grond Ginsbach, C, Candelise, L, Candelise, L., FERRARI, MAURIZIO, FERRARESE, CARLO, CORATO, MANUEL, Bersano, A, Markus, H, Quaglini, S, Arbustini, E, Lanfranconi, S, Micieli, G, Boncoraglio, G, Taroni, F, Gellera, C, Baratta, S, Penco, S, Mosca, L, Grasso, M, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Corti, S, Ronchi, D, Bassi, M, Obici, L, Parati, E, Pezzini, A, De Lodovici, M, Verrengia, E, Bono, G, Mazucchelli, F, Zarcone, D, Calloni, M, Perrone, P, Bordo, B, 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, C, Fusi, L, Grampa, G, Merlini, G, Trobia, N, Braga, M, Vitali, P, Baron, P, Grond Ginsbach, C, Candelise, L, Candelise, L., FERRARI, MAURIZIO, FERRARESE, CARLO, and CORATO, MANUEL

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 <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. Results - In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. Conclusions - In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.

Published
2016

3. The role of clinical and neuroimaging features in the diagnosis of CADASIL

Author

Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Markus, Hugh [0000-0002-9794-5996], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Brain hemorrhage, medicine.medical_specialty, Neurology, White matter lesion, Monogenic disorder, CADASIL, Neuroimaging, Gene mutation, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Diagnosis, Medicine, Dementia, Humans, cardiovascular diseases, Prospective Studies, Receptor, Notch3, Neuroradiology, Aged, Cerebral Hemorrhage, Stroke genetics, Monogenic disorders, business.industry, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, Prospective Studie, Ischemic Attack, Transient, Stroke genetic, Stroke, Lacunar, Female, Neurology (clinical), Atrophy, business, Neuroscience, NOTCH3 gene, 030217 neurology & neurosurgery, Diagnosi, Human
Abstract

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. RESULTS: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. CONCLUSIONS: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield., The Lombardia GENS project has received funding from the Regione Lombardia Government as a Research Independent Project (DGR n°VIII/006128-12/12/2007). Lombardia GENS is an investigator-driven, academic, non-profit consortium and is publicly funded. Hugh Markus is supported by an NIHR Senior Investigator award and his work is supported by the Cambridge University Hospitals NIHR Biomedical Research Centre

Published
2018

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

Author

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

Subjects
Adult, Male, Mitochondrial encephalomyopathy, Pediatrics, medicine.medical_specialty, Pathology, DNA Mutational Analysis, CADASIL, Disease, 030204 cardiovascular system & hematology, MELAS syndrome, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, genetics, Genetic Testing, Registries, Stroke, cerebral amyloid angiopathy, Aged, Genetic testing, Advanced and Specialized Nursing, Fabry disease, medicine.diagnostic_test, business.industry, cerebral amyloid angiopathy, familial, Marfan syndrome, stroke, Neurology (clinical), Cardiology and Cardiovascular Medicine, familial, Middle Aged, medicine.disease, Mutation, Female, genetic, business, 030217 neurology & neurosurgery
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 Results— In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. Conclusions— In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.

Published
2016

5. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Author

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 S, Ronchi D, Bassi MT, Obici L, 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, and Candelise L

Subjects
Adult, Aged, CADASIL complications, Cerebral Amyloid Angiopathy, Familial complications, DNA Mutational Analysis, Fabry Disease complications, Female, Humans, MELAS Syndrome complications, Male, Marfan Syndrome complications, Middle Aged, Mutation, Registries, Stroke etiology, CADASIL genetics, Cerebral Amyloid Angiopathy, Familial genetics, Fabry Disease genetics, Genetic Testing, MELAS Syndrome genetics, Marfan Syndrome genetics, Stroke genetics
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 <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis., Results: In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease., Conclusions: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series., (© 2016 American Heart Association, Inc.)

Published
2016
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