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 language | English |
|---|---|
| Pages (from-to) | 1702-1709 |
| Number of pages | 8 |
| Journal | Stroke |
| Volume | 47 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Jul 1 2016 |
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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 journal › Article
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TY - JOUR
T1 - Clinical pregenetic screening for stroke monogenic diseases
T2 - Results from lombardia GENS registry
AU - Bersano, Anna
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
AU - Parati, Eugenio Agostino
AU - Pezzini, A.
AU - De Lodovici, Maria Luisa
AU - Verrengia, Elena P.
AU - Bono, Giorgio
AU - Mazucchelli, Francesca
AU - Zarcone, D.
AU - Calloni, Maria Vittoria
AU - Perrone, Patrizia
AU - Bordo, B. M.
AU - Colombo, Antonio
AU - Padovani, A.
AU - Cavallini, A.
AU - Beretta, Simone
AU - Ferrarese, Carlo
AU - Motto, Cristina
AU - Agostoni, Elio
AU - Molini, Graziella
AU - Sasanelli, F.
AU - Corato, Manuel
AU - Marcheselli, Simona
AU - Sessa, Maria
AU - Comi, Giancarlo
AU - Checcarelli, N.
AU - Guidotti, Mario
AU - Uccellini, Davide
AU - Capitani, Erminio
AU - Tancredi, L.
AU - Arnaboldi, M.
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
AU - Grond-Ginsbach, Caspar
AU - Candelise, L.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - 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
AB - 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
KW - CADASIL
KW - cerebral amyloid angiopathy, familial
KW - Fabry disease
KW - genetics
KW - Marfan syndrome
KW - MELAS syndrome
KW - stroke
UR - http://www.scopus.com/inward/record.url?scp=84976592806&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84976592806&partnerID=8YFLogxK
U2 - 10.1161/STROKEAHA.115.012281
DO - 10.1161/STROKEAHA.115.012281
M3 - Article
VL - 47
SP - 1702
EP - 1709
JO - Stroke
JF - Stroke
SN - 0039-2499
IS - 7
ER -