Publication
Title
Galactosidase alpha p.A143T variant Fabry disease may result in a phenotype with multifocal microvascular cerebral involvement at a young age
Author
Abstract
Introduction: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 mu mol/L or 13% of normal, normal range >= 1.65 mu mol/L) and genetic investigation confirmed the presence of a hemizygous missense variant in the galactosidase alpha (GLA) gene (p.A143T) Baseline assessment of other systemic involvement showed only a discrete proteinuria Background: FD is a rare lysosomal storage disorder Genetic screening studies have revealed over 600 variants in the GLA gene. The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients Some authors, however, deem this variant non-pathogenic. We describe the case of a 16-year-old male with multifocal white matter lesions on brain MRI, who was diagnosed with FD and carried this genetic variant. Discussion: The causative p.A143T mutation can be associated with a more severe subclinical phenotype than has been reported to date Furthermore, a diagnosis of FD should be considered when finding asymptomatic cerebral white matter lesions in a young patient
Language
English
Source (journal)
Frontiers in neurology / Frontiers Research Foundation (Lausanne, Switzerland) - Lausanne, 2010, currens
Publication
Lausanne : Frontiers Research Foundation, 2018
ISSN
1664-2295
Volume/pages
9(2018), 5 p.
Article Reference
336
ISI
000432401100001
Pubmed ID
29867742
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 12.06.2018
Last edited 15.07.2021
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