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- W2063083256 abstract "Introduction: Fabry disease is an X-linked recessive lysosomal storage disease; it is due to α-galactosidase A deficiency, and its clinical course shows repeated small artery strokes. Methods: Five patients diagnosed with Fabry disease (mean age ± SD = 28.2 ± 11.1 years) and 5 age-matched controls were evaluated with the following magnetic resonance image (MRI) sequences: T1, T2, FLAIR, diffusion, and single voxel spectroscopy at the parietal lobe. Results: Conventional images did not reveal alterations. Mean apparent diffusion coefficient (ADC) ± SD in the corona radiata of patients was 7.8 ± 0.2 × 10−4 mm2/s, which was significantly higher than for controls: 6.93 ± 0.49 × 10−4 mm2/s (P < 0.05). At the lenticular nucleus there were no differences in ADC values between patients (7.32 ± 0.2 × 10−4 mm2/s) and controls (7.2 ± 0.2 × 10−4 mm2/s). The mean ratio NAA/Cr ± SD at the parietal lobes was 1.94 ± 0.2 for patients and 2.1 ± 0.13 for controls (P = n.s.). Discussion: In a group of young Fabry disease patients with normal MRIs, a significant increment of over 12% in ADC values in the corona radiata was found compared with age-matched controls. The change could reflect increased interstitial water content after the Starling equilibrium under raised cerebral blood flow, which is a known feature of Fabry disease. Conclusion: Raised ADC values could predate conventional MRI changes in Fabry disease and therefore be a more sensitive marker of disease progression and response to enzymatic replacement therapy." @default.
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- W2063083256 date "2006-03-01" @default.
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- W2063083256 title "Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease" @default.
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- W2063083256 doi "https://doi.org/10.1097/01.nrl.0000187495.16824.a6" @default.
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