ArticleAJNR. American journal of neuroradiology2016
Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation.
Article in AJNR. American journal of neuroradiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report.BMC nephrology · 2026Article
- Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.BMC medical genomics · 2026Article
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients.Orphanet journal of rare diseases · 2023Article
- Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis.Neurology international · 2022Review
- Heritable and non-heritable uncommon causes of stroke.Journal of neurology · 2021Review
- Fabry Disease and the Heart: A Comprehensive Review.International journal of molecular sciences · 2021Review
- Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation.Molecular genetics and metabolism reports · 2020Article
- Diagnosis and Screening of Patients with Fabry Disease.Therapeutics and clinical risk management · 2020Review
- Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.European journal of neurology · 2019Review
- A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.BMC neurology · 2017Article
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8 authors.
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Abstract
background and purposeA high incidence of cardiac-type Fabry disease with an α-galactosidase A mutation, IVS4 + 919 G>A, has been identified in the Taiwanese population. The neurologic manifestation has not been understood in this specific cardiac variant. This study aimed to investigate the typical imaging features of classic Fabry disease in patients with IVS4 Fabry disease. MATERIALS AND
methodsTwenty-six patients with IVS4-type Fabry disease (20 men and 6 women; age range, 43-71 years; median age, 61 years) and 26 age- and sex-matched healthy controls (age range, 44-68 years; median age, 60 years) were analyzed for white matter hyperintensities, the pulvinar sign, and basilar artery diameter. The volumes of white matter hyperintensities were calculated by comparison with an in-house data base of 276 controls.
resultsInfarctions were found in 9 patients with IVS4 Fabry disease (35%) and in none of the healthy controls (P = .001). A pulvinar sign was found in 8 patients with IVS4 Fabry disease (30%) and in none of the healthy controls (P = .002). No significant difference was found in Fazekas scale scores for white matter hyperintensities; however, white matter hyperintensity volume in the deep white matter was higher in patients with IVS4 Fabry disease than in those from the healthy control data base (P = .004).
conclusionsAlong with its involvement of the cardiac system, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls.
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