Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

Molecular Genetics and Metabolism
Simon KörverMirjam Langeveld

Abstract

Fabry disease (FD) is a rare lysosomal storage disorder that might result in, amongst other complications, early stroke and white matter lesions (WMLs). More insight in WMLs in FD could clarify the role of WMLs in the disease presentation and prognosis in FD. In this systematic review we assessed the prevalence, severity, location and course of WMLs in FD. We also systematically reviewed the evidence on the relation between WMLs, disease characteristics and clinical parameters. We searched Pubmed, EMBASE and CINAHL (inception to Feb 2018) and identified articles reporting on FD and WMLs assessed with MRI. Prevalence and severity were assessed for all patients combined and divided by sex. Out of 904 studies a total of 46 studies were included in the analyses. WMLs were present in 46% of patients with FD (581 out of 1276 patients, corrected mean age: 38.8 years, range 11.8-79.3) and increased with age. A total of 16.4% of patients (31 out of 189 patients, corrected mean age: 41.1 years, range 35.8-43.3 years) showed substantial confluent WMLs. Men and women showed comparable prevalence and severity of WMLs. However, men were significantly younger at time of WML assessment. Patients with classical FD had a higher chance on WMLs co...Continue Reading

Citations

May 11, 2019·Journal of Clinical Medicine·Maria Sofia Falzarano, Alessandra Ferlini
Feb 6, 2020·Journal of Neuropathology and Experimental Neurology·Kelly Del TrediciHeiko Braak
Feb 23, 2020·Journal of Inherited Metabolic Disease·Sanne J van der VeenMirjam Langeveld
Mar 21, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M MancusoH S Markus
Apr 23, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Simon KörverMirjam Langeveld
Apr 23, 2020·Journal of Neurology·A BersanoH S Markus
Nov 4, 2020·Brain : a Journal of Neurology·Leonardo UliviDavid J Werring
Jan 1, 2021·International Journal of Molecular Sciences·Olga AzevedoDamião Cunha
Jul 29, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Adam J KanackNancy M Dahms

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