Functional Transcranial Doppler: Presymptomatic Changes in Fabry Disease

• Type: Article in International Scientific Journal
• Date: 2012

Authors

Elsa Azevedo (Author) FMUP; Mendes, A (Author) Other; Daniela Seixas (Author) FMUP; Santos, R (Author) Other; Pedro Castro (Author) FMUP; Ayres Basto, M (Author) Other; Rosengarten, B (Author) Other; João Paulo Oliveira (Author) FMUP

Journal

Title: European Neurology

Vol. 67

Pages: 331-337

ISSN: 0014-3022

Publisher: Karger

Indexing

ISI Web of Knowledge - 21 Citations

Scopus - 21 Citations

Other information

Authenticus ID: P-002-G6C

DOI: 10.1159/000337906

Abstract (EN): 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. Copyright (C) 2012 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7