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
| |
DOI
|
|
|
|
10.3389/FNEUR.2018.00336
| |
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)
|
|
|
|
| |
|