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Updated: May 22, 2026

Functional Transcranial Doppler Ultrasound for Monitoring Cerebral Blood Flow
Published on: March 15, 2021
Functional transcranial Doppler: presymptomatic changes in Fabry disease
Elsa Azevedo1, Amélia Mendes, Daniela Seixas
1Department of Neurology, Hospital São João, Faculty of Medicine of University of Porto, Porto, Portugal. elsaazevedo@netcabo.pt
Insights
Functional transcranial Doppler (fTCD) can detect early cerebrovascular dysfunction in asymptomatic Fabry disease (FD) patients. This technique may help assess stroke risk and guide preventive therapy in individuals with FD.
Area of Science:
- Neurology
- Vascular Medicine
- Medical Imaging
Background:
- Cerebrovascular disease can be asymptomatic in early stages of Fabry disease (FD).
- Early detection of vascular changes is crucial for managing FD patients.
Purpose of the Study:
- To evaluate the utility of functional transcranial Doppler (fTCD) in assessing presymptomatic FD patients.
- To investigate early cerebrovascular changes in the posterior circulation of FD patients.
Main Methods:
- A cohort of 12 adult FD patients with the classical phenotype underwent fTCD.
- fTCD was used to measure blood flow velocities in the posterior cerebral artery.
- Neurovascular coupling was assessed in the visual cortex.
Main Results:
- FD patients exhibited significantly lower resting blood flow velocities compared to healthy controls.
- fTCD indicated disturbed neurovascular coupling in the visual cortex of FD patients.
- Men with FD showed greater attenuation and lower natural frequency than heterozygous women.
Conclusions:
- This study provides initial evidence of cortical vascular dysfunction in the posterior circulation of FD patients early in the disease course.
- fTCD may prove valuable in assessing stroke risk in asymptomatic FD patients.
- Findings suggest fTCD could improve preventive therapeutic strategies for FD.
Background And Aim:
Cerebrovascular disease may progress asymptomatically in the early stages of Fabry disease (FD). Our aim was to test whether functional transcranial Doppler (fTCD) could provide useful data in the evaluation of these presymptomatic FD patients.
Methods:
A cohort of 12 adult FD patients from families with the classical phenotype of the disease was evaluated with fTCD in the posterior cerebral artery.
Results:
Compared to healthy controls, resting blood velocities were significantly lower in the FD cohort (p = 0.032 for systolic, p = 0.021 for diastolic). FTCD suggested a disturbed neurovascular coupling in the visual cortex of FD patients, with lower gain (p = 0.007) and rate time (p = 0.019). Men had a significantly higher attenuation (p = 0.013) and lower natural frequency (p = 0.046) than the heterozygous women.
Conclusion:
These data are the first to suggest that patients with FD may develop cortical vascular dysfunction in the territory of the posterior circulation, early in the natural history of the disease. If the present findings are confirmed in larger, prospective studies, fTCD will be useful for assessing stroke risk in as yet asymptomatic FD patients, improving preventive therapeutic management.
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