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Abstract
Objective To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3.
Methods This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. We measured WMH volume using semiautomated software. We measured CBF in regions of interest in whole-brain, WM, and deep GM, and assessed correlations with WMH volume and plasma lyso-Gb3.
Results The mean age (% male) for FD and healthy controls was 42.2 years (44%) and 37.1 years (50%). Mean whole-brain CBF was 27.56 mL/100 mL/min (95% confidence interval [CI] 23.78–31.34) for FD vs 22.39 mL/100 mL/min (95% CI 20.08–24.70) for healthy controls, p = 0.03. In WM, CBF was higher in FD (22.42 mL/100 mL/min [95% CI 17.72–27.12] vs 16.25 mL/100 mL/min [95% CI 14.03–18.48], p = 0.05). In deep GM, CBF was similar between groups (40.41 mL/100 mL/min [95% CI 36.85–43.97] for FD vs 37.46 mL/100 mL/min [95% CI 32.57–42.35], p = 0.38). In patients with FD with WMH (n = 20), whole-brain CBF correlated with WMH volume (r = 0.59, p = 0.006), not with plasma lyso-Gb3.
Conclusion In FD, resting CBF is increased in WM but not deep GM. In FD, CBF correlates with WMH, suggesting that cerebral perfusion changes might contribute to, or result from, WM injury.
Glossary
- ASL=
- arterial spin labeling;
- CBF=
- cerebral blood flow;
- CI=
- confidence interval;
- ERT=
- enzyme replacement therapy;
- FD=
- Fabry disease;
- Gb3=
- globotriaosylceramide;
- GM=
- gray matter;
- PD=
- proton density;
- QUASAR=
- Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions;
- ROI=
- region of interest;
- SVD=
- small vessel disease;
- TE=
- echo time;
- TR=
- repetition time;
- WM=
- white matter;
- WMH=
- white matter hyperintensities
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Editorial, page 721
- Received August 22, 2017.
- Accepted in final form January 23, 2018.
- © 2018 American Academy of Neurology
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Disputes & Debates: Rapid online correspondence
- Author response to Drs. Cocozza & Quarantelli
- Cerebral blood flow and white matter in Fabry disease: Cum hoc ergo propter hoc?
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