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Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population
Xiaowei Song1,2, Sufang Xue2, Jingyan Zhao2
1a 1 Department of Neurology, Beijing Tsinghua Changgung Hospital , Beijing , China.
Insights
Fabry disease was not found in young Chinese stroke patients. However, the c.-10C>T polymorphism may be a risk factor for ischemic stroke of undetermined causes.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Fabry disease, an X-linked lysosomal storage disorder, is linked to cerebrovascular disease.
- Limited data exists on Fabry disease prevalence and GLA gene mutations in Chinese stroke patients.
- Investigating these factors in young stroke patients is crucial for understanding disease associations.
Purpose of the Study:
- To determine the prevalence of Fabry disease in young ischemic stroke patients in China.
- To analyze the distribution of alpha-galactosidase A (α-GalA) gene (GLA) mutations in this population.
- To assess the association between GLA mutations and stroke subtypes.
Main Methods:
- Sanger sequencing was used to screen for GLA gene mutations in 357 ischemic stroke patients (aged 18-55).
- Enzyme levels were measured for confirmation in patients with identified gene mutations.
- Mutation frequencies were compared across stroke subtypes and with a control group.
Main Results:
- No pathogenic GLA gene mutations, and thus no Fabry disease, were identified in the study cohort.
- A significant difference in the intronic polymorphism c.-10C>T frequency was observed among stroke subtypes (p < 0.01).
- The c.-10C>T polymorphism was more frequent in patients with stroke of other or undetermined causes compared to controls (OR = 3.18).
Conclusions:
- Fabry disease is rare, and routine screening in all stroke patients is not beneficial.
- The c.-10C>T polymorphism may represent a risk factor for ischemic stroke from other and undetermined causes.
- Further research is needed to validate these findings and the role of the c.-10C>T polymorphism.
Purpose:
Fabry disease is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. Data regarding Fabry disease and ischemic stroke has been lacking in China. In this study, we investigated the prevalence of Fabry disease and the distribution of the alpha-galactosidase A (α-GalA) gene - GLA mutations in young stroke patients in the Chinese population and its association with stroke subtypes.
Methods:
A total of 357 ischemic stroke patients admitted to Xuanwu Hospital of Capital Medical University, aged 18-55 years old, including 293 patients with cerebral infarction and 64 patients with transient ischemic attack, were enrolled in this study. Mutations in the GLA gene were screened by Sanger sequencing. Enzyme levels were measured to further confirm the disease in patients with the gene mutation. The mutation frequency was compared among different stroke subtypes and further compared with the control group individually.
Results:
No pathogenic mutations in the coding regions of the GLA gene were identified in this group of patients and thus no Fabry disease was found in our study. However, the frequency of an intronic polymorphism c.-10C>T was significantly different among different Trial of Org 10172 in Acute Stroke Treatment subtypes (p < 0.01). The frequency of the c.-10C>T polymorphism in patients with stroke due to other causes and undetermined causes was much higher than that in the control group (OR = 3.18, 95% CI: 1.29-7.83, p < 0.01).
Conclusions:
Fabry disease is a rare disease, and it will not benefit to screen all stroke patients. In addition, our results suggested that the c.-10C>T polymorphism may be a risk factor for ischemic stroke of other and undetermined causes. Further study is required to confirm our findings.
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