Article
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Journal of the neurological sciences - 15 Feb 2024
Romani Ilaria, Sarti Cristina, Nencini Patrizia, Pracucci Giovanni, Zedde Marialuisa, Cianci Vittoria, Nucera Antonia, Moller Jessica, Orsucci Daniele, Toni Danilo, Palumbo Pasquale, Casella Carmela, Pinto Vincenza, Barbarini Leonardo, Bella Rita, Scoditti Umberto, Ragno Michele, Mezzapesa Domenico Maria, Tassi Rossana, Volpi Gino, Diomedi Marina, Bigliardi Guido, Cavallini Anna Maria, Chiti Alberto, Ricci Stefano, Cecconi Emanuela, Linoli Giovanni, Sacco Simona, Rasura Maurizia, Giordano Antonello, Bonetti Bruno, Melis Marta, Cariddi Lucia Princiotta, Dossi Roberto Currò, Grisendi Ilaria, Aguglia Umberto, Di Ruzza Maria Rita, Melis Maurizio, Sbardella Emilia, Vista Marco, Valenti Raffaella, Musolino Rosa Fortunata, Passarella Bruno, Direnzo Vita, Pennisi Giovanni, Genovese Antonio, Di Marzio Fabio, Sgobio Rossana, Acampa Maurizio, Nannucci Serena, Dagostino Federica, Dell'Acqua Maria Luisa, Cuzzoni Maria Giovanna, Picchioni Antonella, Calchetti Benedetta, Notturno Francesca, Di Lisi Filomena, Forlivesi Stefano, Delodovici Maria Luisa, Buechner Susanne Christiane, Biagini Silvia, Accavone Donatella, Manna Raffaele, Morrone Amelia, Inzitari Domenico
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a treatable X-linked lysosomal storage disorder caused by GLA gene variants leading to alpha-galactosidase A deficiency. FD is a rare cause of stroke, and it is still controversial whether in stroke patients FD should be searched from the beginning or at the end of the diagnostic workup (in cryptogenic strokes). METHODS: Fabry-Stroke Italian Registry is a prospective,...
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