ArticlePloS one2013
Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Potential Pathogenetic Role of the D313Y Mutation in theInternational journal of molecular sciences · 2025Article
- Article
- Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.Genes · 2023Article
- How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Phenotyping of a novelFrontiers in genetics · 2023Article
- Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.Orphanet journal of rare diseases · 2022Review
- Assessment of Peripheral Nervous System Alterations in Patients with the Fabry RelatedDiagnostics (Basel, Switzerland) · 2020Article
- Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.Biomedicines · 2020Article
- Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease.Brain sciences · 2020Article
- Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.Clinics (Sao Paulo, Brazil) · 2020Article
- GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?Arquivos brasileiros de cardiologia · 2019Article
- Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model.Frontiers in molecular neuroscience · 2018Article
- Fabry disease due to D313Y and novel GLA mutations.BMJ open · 2017Article
- Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.Orphanet journal of rare diseases · 2016Article
- Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.BMJ open · 2016Article
- Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.BMC neurology · 2015Article
- Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Orphanet journal of rare diseases · 2014Article
- A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.Genome research · 2014Article
- GLA mutation as a risk factor for later life small vessel ischaemic disease.European journal of neurology · 2014Article
- Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease.Journal of cardiovascular echographyArticle
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
White matter lesions (WML) are clinically relevant since they are associated with strokes, cognitive decline, depression, or epilepsy, but the underlying etiology in young adults without classical risk factors still remains elusive. Our aim was to elucidate the possible clinical diagnosis and mechanisms leading to WML in patients carrying the D313Y mutation in the α-galactosidase A (GLA) gene, a mutation that was formerly described as nonpathogenic. Pathogenic GLA mutations cause Fabry disease, a vascular endothelial glycosphingolipid storage disease typically presenting with a symptom complex of renal, cardiac, and cerebrovascular manifestations. We performed in-depths clinical, biochemical and genetic examinations as well as advanced magnetic resonance imaging analyses in a pedigree with the genetically determined GLA mutation D313Y. We detected exclusive neurologic manifestations of the central nervous system of the "pseudo"-deficient D313Y mutation leading to manifest WML in 7 affected adult family members. Furthermore, two family members that do not carry the mutation showed no WML. The D313Y mutation resulted in a normal GLA enzyme activity in leukocytes and severely decreased activities in plasma. In conclusion, our results provide evidence that GLA D313Y is potentially involved in neural damage with significant WML, demonstrating the necessity of evaluating patients carrying D313Y more thoroughly. D313Y might broaden the spectrum of hereditary small artery diseases of the brain, which preferably occur in young adults without classical risk factors. In view of the existing causal therapy regime, D313Y should be more specifically taken into account in these patients.
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