ArticleJournal of human genetics2017
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression.Journal of neurology · 2025Pooled it
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.Journal of human genetics · 2019Trial
- Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.Human genome variation · 2026Article
- Cryptogenic strokes and neurological symptoms of Fabry disease.Frontiers in neurology · 2025Article
- Review
- The Role of α3β1 Integrin Modulation on Fabry Disease Podocyte Injury and Kidney Impairment.Toxins · 2023Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.Internal medicine (Tokyo, Japan) · 2021Article
- Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis. One 65-year-old female patient had a known GLA gene mutation, c.2T>C (p.M1T), causing Fabry disease. Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease. The allele frequency of GLA c.196G>C was significantly higher in male patients with small-vessel occlusion (odds ratio 3.95, P=0.048) and non-cardioembolism (odds ratio 4.08, P=0.012) than that in the general Japanese population. Fabry disease is rare in the general Japanese stroke population. However, screening identified one elderly female patient with Fabry disease. GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females.
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