BACKGROUND AND PURPOSE: The etiology of stroke in young patients remains undetermined in up to half of the cases. Data on prevalence of Fabry disease (FD) in young people with cryptogenic ischaemic stroke are limited and controversial. We aimed to evaluate the frequency of unrecognized FD in a cohort of stroke patients at a tertiary stroke center. METHODS: Patients suffering from first cryptogenic ischaemic stroke or transient ischaemic attack (TIA) at the age of 18-55 years were screened for the presence of FD. We measured the serum activity of α-galactosidase (α-GAL) in all patients. In addition, sequencing of α-GAL gene was performed in men with low enzyme activity and in all women. RESULTS: Between January, 2006, and October, 2009, we recruited 150 patients (102 men, 48 women) with a mean age of 43 ± 9 years at symptom onset (135 ischaemic stroke, 15 TIA). The α-GAL activity was low in nine patients (6%; six men and three women). Genetic sequencing in six men with low enzyme activity and all 48 women detected no α-GAL gene mutation. CONCLUSION: Our study suggests that the yield of screening for FD in patients with first cryptogenic ischaemic stroke or TIA is very low. Further large-scale studies are needed to investigate the importance of FD amongst patients with recurrent cryptogenic strokes.
BACKGROUND AND PURPOSE: The etiology of stroke in young patients remains undetermined in up to half of the cases. Data on prevalence of Fabry disease (FD) in young people with cryptogenic ischaemic stroke are limited and controversial. We aimed to evaluate the frequency of unrecognized FD in a cohort of strokepatients at a tertiary stroke center. METHODS:Patients suffering from first cryptogenic ischaemic stroke or transient ischaemic attack (TIA) at the age of 18-55 years were screened for the presence of FD. We measured the serum activity of α-galactosidase (α-GAL) in all patients. In addition, sequencing of α-GAL gene was performed in men with low enzyme activity and in all women. RESULTS: Between January, 2006, and October, 2009, we recruited 150 patients (102 men, 48 women) with a mean age of 43 ± 9 years at symptom onset (135 ischaemic stroke, 15 TIA). The α-GAL activity was low in nine patients (6%; six men and three women). Genetic sequencing in six men with low enzyme activity and all 48 women detected no α-GAL gene mutation. CONCLUSION: Our study suggests that the yield of screening for FD in patients with first cryptogenic ischaemic stroke or TIA is very low. Further large-scale studies are needed to investigate the importance of FD amongst patients with recurrent cryptogenic strokes.
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: 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: Juan Fernando Ortiz; Jashank Parwani; Paul W Millhouse; Ahmed Eissa-Garcés; Gashaw Hassen; Victor D Cuenca; Ivan Mateo Alzamora; Mahika Khurana; Domenica Herrera-Bucheli; Abbas Altamimi; Adam Atoot; Wilson Cueva Journal: Cureus Date: 2021-11-08
Authors: Laura L Kilarski; Loes C A Rutten-Jacobs; Steve Bevan; Rob Baker; Ahamad Hassan; Derralynn A Hughes; Hugh S Markus Journal: PLoS One Date: 2015-08-25 Impact factor: 3.240