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.
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 FDpatients. METHODS: A cohort of 12 adult FDpatients 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 FDpatients, 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 FDpatients, improving preventive therapeutic management.
Authors: Po Phyu; Aine Merwick; Indran Davagnanam; Fay Bolsover; Fatima Jichi; Claudia Wheeler-Kingshott; Xavier Golay; Deralynn Hughes; Lisa Cipolotti; Elaine Murphy; Robin H Lachmann; David John Werring Journal: Neurology Date: 2018-03-21 Impact factor: 9.910
Authors: Idalina Beirão; Ana Cabrita; Márcia Torres; Fernando Silva; Patrício Aguiar; Francisco Laranjeira; Ana Marta Gomes Journal: Diseases Date: 2017-06-11
Authors: Nurcan Uçeyler; György A Homola; Hans Guerrero González; Daniela Kramer; Christoph Wanner; Frank Weidemann; László Solymosi; Claudia Sommer Journal: PLoS One Date: 2014-01-27 Impact factor: 3.240