TY - JOUR
T1 - Lombardia GENS
T2 - A collaborative registry for monogenic diseases associated with stroke
AU - Bersano, Anna
AU - Baron, Pierluigi
AU - Lanfranconi, Silvia
AU - Trobia, Nadia
AU - Sterzi, Roberto
AU - Motto, Cristina
AU - Comi, Giancarlo
AU - Sessa, Maria
AU - Martinelli-Boneschi, Filippo
AU - Micieli, Giuseppe
AU - Ferrarese, Carlo
AU - Santoro, Patrizia
AU - Parati, Eugenio
AU - Boncoraglio, Giorgio
AU - Padovani, Alessandro
AU - Pezzini, Alessandro
AU - Candelise, Livia
PY - 2012/10
Y1 - 2012/10
N2 - The Italian region of Lombardy, with its existing stroke centers and high-technology laboratories, provides a favorable context for studying monogenic diseases associated with stroke. The Lombardia GENS project was set up to create a regional network for the diagnosis of six monogenic diseases associated with stroke: CADASIL, Fabry disease, MELAS, familial and sporadic hemiplegic migraine, hereditary cerebral amyloid angiopathy and Marfan syndrome. The network comprises 36 stroke centers and seven high-technology laboratories, performing molecular analysis. In this context, all stroke/TIA patients fulfilling clinical criteria for monogenic diseases are currently being included in an ongoing study. Demographic, clinical and family data and diagnostic criteria are collected using standardized forms. On the basis of stroke incidence in Lombardy and the reported prevalence of the diseases considered, we expect, during the course of the study, to collect datasets and DNA samples from more than 200 stroke patients suspected of having monogenic diseases. This will allow evaluation of the regional burden and better phenotype characterization of monogenic diseases associated with stroke.
AB - The Italian region of Lombardy, with its existing stroke centers and high-technology laboratories, provides a favorable context for studying monogenic diseases associated with stroke. The Lombardia GENS project was set up to create a regional network for the diagnosis of six monogenic diseases associated with stroke: CADASIL, Fabry disease, MELAS, familial and sporadic hemiplegic migraine, hereditary cerebral amyloid angiopathy and Marfan syndrome. The network comprises 36 stroke centers and seven high-technology laboratories, performing molecular analysis. In this context, all stroke/TIA patients fulfilling clinical criteria for monogenic diseases are currently being included in an ongoing study. Demographic, clinical and family data and diagnostic criteria are collected using standardized forms. On the basis of stroke incidence in Lombardy and the reported prevalence of the diseases considered, we expect, during the course of the study, to collect datasets and DNA samples from more than 200 stroke patients suspected of having monogenic diseases. This will allow evaluation of the regional burden and better phenotype characterization of monogenic diseases associated with stroke.
KW - Cerebrovascular disease
KW - Genetics
KW - Monogenic disorders
KW - Stroke
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M3 - Article
C2 - 23158583
AN - SCOPUS:84870192876
VL - 27
SP - 107
EP - 117
JO - Functional Neurology
JF - Functional Neurology
SN - 0393-5264
IS - 2
ER -