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Proton Spectroscopy and Imaging at 3T in Ataxia-Telangiectasia

L.I. Wallisa, P.D. Griffithsa, S.J. Ritchieb, C.A.J. Romanowskic, G. Darwenta and I.D. Wilkinsona

a Academic Unit of Radiology, The University of Sheffield, Sheffield, United Kingdom
b Department of Medical Genetics, Nottingham City Hospital, Nottingham, United Kingdom
c Department of Radiology, Royal Hallamshire Hospital, Sheffield, United Kingdom


Figure 1
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Fig 1. T2-weighted turbo spin-echo images from an A-T patient revealing severe atrophy of the cerebellar hemispheres with voxel placed in the region of the dentate nucleus (A) and with voxel placed in the parieto-occipital white matter (B).


Figure 2
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Fig 2. T2-weighted turbo spin-echo images from an A-T patient revealing severe atrophy of cerebellar vermis (A) and, in another patient, suspected meningioma (B).


Figure 3
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Fig 3. Representative T2*-weighted image from a 28-year-old A-T patient showing multiple capillary telangiectasia. Note the multiple punctate regions of hypointensity throughout the cortical white matter.


Figure 4
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Fig 4. Proton MR spectra from the region of the dentate nucleus of a control subject (A) and a patient with A-T (B) and from the parieto-occipital white matter of a control subject (C) and a patient with A-T (D). The major metabolite peaks are labeled and correspond to cholines (Cho) at 3.2 ppm, creatines (Cr) at 3.0 ppm, and N-acetylaspartate (NAA) at 2.02 ppm. The increase in the Cho peak is marked with an arrow.


Figure 5
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Fig 5. Plot of long echo-time ratios of N-acetylaspartate/choline (NAA/Cho) (P = .002), choline/creatine (Cho/Cr) (P = .008), and N-acetylaspartate/creatine (NAA/Cr) (P = .796) from voxels placed in the region of the dentate nucleus. Error bars indicate 95% CI from the mean.


Figure 6
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Fig 6. Plot of long echo-time ratios of N-acetylaspartate/choline (NAA/Cho) (P = .546), choline/creatine (Cho/Cr) (P = .931), and N-acetylaspartate/creatine (NAA/Cr) (P = .796) from voxels placed in the region of the parieto-occipital white matter. Error bars indicate 95% CI from the mean.