PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). RESULTS: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24th month. In two years, 4 lesions disappeared, whereas 8 appeared. CONCLUSION: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.
PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). RESULTS: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24th month. In two years, 4 lesions disappeared, whereas 8 appeared. CONCLUSION: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.
Authors: Saskia M Rombach; Bouwien E Smid; Gabor E Linthorst; Marcel G W Dijkgraaf; Carla E M Hollak Journal: J Inherit Metab Dis Date: 2014-02-04 Impact factor: 4.982
Authors: Marieke Biegstraaten; Reynir Arngrímsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt-Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; João P Oliveira; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder-Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki-Szymanska; Camilla Tøndel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak Journal: Orphanet J Rare Dis Date: 2015-03-27 Impact factor: 4.123
Authors: Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Aleš Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; João-Paulo Oliveira; Maurizio Pieroni; Miguel Viana-Baptista; Christoph Wanner; Marco Spada Journal: Mol Genet Metab Rep Date: 2019-02-06
Authors: Maarten Arends; Marieke Biegstraaten; Derralynn A Hughes; Atul Mehta; Perry M Elliott; Daniel Oder; Oliver T Watkinson; Frédéric M Vaz; André B P van Kuilenburg; Christoph Wanner; Carla E M Hollak Journal: PLoS One Date: 2017-08-01 Impact factor: 3.240
Authors: James D Stefaniak; Laura M Parkes; Adrian R Parry-Jones; Gillian M Potter; Andy Vail; Ana Jovanovic; Craig J Smith Journal: Neurology Date: 2018-09-12 Impact factor: 9.910