title: Functional transcranial Doppler: presymptomatic changes in Fabry disease.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Hospital São João, Faculty of Medicine of University of Porto, Porto, Portugal. elsaazevedo@netcabo.pt
authors.forename: Elsa
authors.initials: E
authors.lastname: Azevedo
authors.forename: Amélia
authors.initials: A
authors.lastname: Mendes
authors.forename: Daniela
authors.initials: D
authors.lastname: Seixas
authors.forename: Rosa
authors.initials: R
authors.lastname: Santos
authors.forename: Pedro
authors.initials: P
authors.lastname: Castro
authors.forename: Margarida
authors.initials: M
authors.lastname: Ayres-Basto
authors.forename: Bernhard
authors.initials: B
authors.lastname: Rosengarten
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D002560:Cerebrovascular Circulation; D015331:Cohort Studies; D000795:Fabry Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020769:Posterior Cerebral Artery / Q000000981:diagnostic imaging; D018709:Statistics, Nonparametric; D017585:Ultrasonography, Doppler, Transcranial; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase