{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:37:39Z","timestamp":1762299459111,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Background: Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transcranial Doppler (TCD) in FD. Methods: Ten adult patients with classic phenotype FD, without clinical expression of CVD, and ten healthy controls, were included. We monitored cerebral blood flow velocity with TCD in the middle and posterior cerebral arteries, blood pressure, heart rate, and non-invasive expired carbon dioxide (CO2). Cerebral autoregulation was calculated from the spontaneous oscillations of blood pressure, cerebral vasoreactivity through CO2 inhalation and hyperventilation and neurovascular coupling by the flow velocity change to visual stimulation. Results: FD male patients showed blunted vasoreactivity in posterior circulation (0.70 \u00b1 0.36%\/mmHg vs. 1.09 \u00b1 0.18%\/mmHg CO2, p = 0.01) and impaired neurovascular coupling (overshoot 15 \u00b1 2.9% vs. 28 \u00b1 6.1%, p &lt; 0.01). Cerebral autoregulation was similar to controls. Conclusion: Male patients with FD classic phenotype and hitherto clinical expression of CVD already show impairment of cerebral vasoreactivity and neurovascular coupling. It supports the notion of an early dysfunction of cerebral microvascular in a presymptomatic stage of CVD in FD and that TCD could be useful in its assessment.<\/jats:p>","DOI":"10.3390\/brainsci10080528","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T09:30:54Z","timestamp":1596792654000},"page":"528","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease"],"prefix":"10.3390","volume":"10","author":[{"given":"Pedro","family":"Castro","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal"},{"name":"Cardiovascular Research and Development Unit, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal"},{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0462-7735","authenticated-orcid":false,"given":"Mariana","family":"Gutierres","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal"}]},{"given":"Gilberto","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1718-8794","authenticated-orcid":false,"given":"Susana","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine of University of Porto and Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"},{"name":"i3S\u2013Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5016-1967","authenticated-orcid":false,"given":"Jo\u00e3o Paulo","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine of University of Porto and Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"},{"name":"i3S\u2013Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3731-4508","authenticated-orcid":false,"given":"Elsa","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal"},{"name":"Cardiovascular Research and Development Unit, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal"},{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.2147\/TACG.S146022","article-title":"Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations","volume":"12","author":"Oliveira","year":"2019","journal-title":"Appl. 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