OBJECTIVE: To assess the prevalence of Fabry disease in young patients with cryptogenic stroke. PATIENTS AND METHODS: We retrospectively assessed the prevalence of Fabry disease in patients aged 16-60 years that were admitted to ZNA Middelheim Hospital from January 1, 2000 to December 31, 2004 for cryptogenic stroke. We screened for Fabry disease by measurement of alpha-galactosidase A and beta-glucuronidase activity on blood spot. In all patients with abnormal enzymatic activity and in all female patients with low normal values, genetic sequencing of the alpha-GAL-gene was performed. RESULTS: In a population of 103 young patients with cryptogenic stroke that met the in- and exclusion criteria, we were unable to identify any patient with Fabry disease. CONCLUSION: Based on the results of alpha-galactosidase A and beta-glucuronidase activity, genetic sequencing and the low prevalence of clinical signs and symptoms of Fabry disease in this population, we believe that the true prevalence of Fabry disease in patients with cryptogenic stroke may be less than currently accepted in literature.
OBJECTIVE: To assess the prevalence of Fabry disease in young patients with cryptogenic stroke. PATIENTS AND METHODS: We retrospectively assessed the prevalence of Fabry disease in patients aged 16-60 years that were admitted to ZNA Middelheim Hospital from January 1, 2000 to December 31, 2004 for cryptogenic stroke. We screened for Fabry disease by measurement of alpha-galactosidase A and beta-glucuronidase activity on blood spot. In all patients with abnormal enzymatic activity and in all female patients with low normal values, genetic sequencing of the alpha-GAL-gene was performed. RESULTS: In a population of 103 young patients with cryptogenic stroke that met the in- and exclusion criteria, we were unable to identify any patient with Fabry disease. CONCLUSION: Based on the results of alpha-galactosidase A and beta-glucuronidase activity, genetic sequencing and the low prevalence of clinical signs and symptoms of Fabry disease in this population, we believe that the true prevalence of Fabry disease in patients with cryptogenic stroke may be less than currently accepted in literature.
Authors: Barbara Goeggel Simonetti; Marie-Luise Mono; Uyen Huynh-Do; Patrik Michel; Celine Odier; Roman Sztajzel; Philippe Lyrer; Stefan T Engelter; Leo Bonati; Henrik Gensicke; Christopher Traenka; Barbara Tettenborn; Bruno Weder; Urs Fischer; Aekaterini Galimanis; Simon Jung; Rudolf Luedi; Gian Marco De Marchis; Anja Weck; Carlo W Cereda; Ralf Baumgartner; Claudio L Bassetti; Heinrich P Mattle; Krassen Nedeltchev; Marcel Arnold Journal: J Neurol Date: 2015-06-12 Impact factor: 4.849
Authors: Marcella A Wozniak; Steven J Kittner; Stanley Tuhrim; John W Cole; Barney Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick Journal: Stroke Date: 2009-12-10 Impact factor: 7.914
Authors: Laura Fancellu; Walter Borsini; Ilaria Romani; Angelo Pirisi; Giovanni Andrea Deiana; Elia Sechi; Pietro Emiliano Doneddu; Anna Laura Rassu; Rita Demurtas; Anna Scarabotto; Pamela Cassini; Eloisa Arbustini; GianPietro Sechi Journal: BMC Neurol Date: 2015-12-12 Impact factor: 2.474
Authors: L van der Tol; David Cassiman; Gunnar Houge; Mirian C Janssen; Robin H Lachmann; Gabor E Linthorst; Uma Ramaswami; Claudia Sommer; Camilla Tøndel; Michael L West; Frank Weidemann; Frits A Wijburg; Einar Svarstad; Carla Em Hollak; Marieke Biegstraaten Journal: JIMD Rep Date: 2014-09-16