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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 28:79-83, January 2007
© 2007 American Society of Neuroradiology

BRAIN

Proton Spectroscopy and Imaging at 3T in Ataxia-Telangiectasia

L.I. Wallis^a, P.D. Griffiths^a, S.J. Ritchie^b, C.A.J. Romanowski^c, G. Darwent^a and I.D. Wilkinson^a

^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

Address correspondence to Lauren I. Wallis, PhD, Academic Unit of Radiology, C Floor, Royal Hallamshire Hospital, Glossop Rd, Sheffield, South Yorkshire, S10 2JF England; e-mail: l.wallis{at}sheffield.ac.uk

BACKGROUND AND PURPOSE: Ataxia-telangiectasia (A-T) is an autosomal recessive disorder with characteristic neurodegeneration of the cerebellum. We used MR spectroscopy to test the hypothesis that cerebellar metabolism in A-T patients would be abnormal relative to healthy controls.

METHODS: Twelve adults with A-T and 12 healthy control subjects underwent MR imaging and long-echo time ¹H-MR spectroscopy at 3T. Voxels were acquired in the region of the dentate nucleus of the cerebellum and in parietooccipital white matter, and ratios for N-acetylaspartate (NAA), choline (Cho), and creatine (Cr) were calculated.

RESULTS: All of the A-T patients showed marked cerebellar atrophy of the vermis and hemispheres. Two patients showed multiple small foci of hypointensity on T2*-weighted images throughout their brain suggestive of capillary telangiectasia. A further 2 patients had single low-signal-intensity foci. One patient had a tumor, thought to be meningioma radiologically, that was not suspected clinically. No group differences were found in the cerebral spectra, but analysis of the cerebellum revealed significantly lower NAA/Cho and higher Cho/Cr ratios in the A-T patients compared with the controls. There was no difference between groups for the NAA/Cr ratio.

CONCLUSION: The findings suggest increased Cho signal intensity in the cerebellum of adult A-T patients. If this finding is shown through the course of the disease, it may assist in the differentiation of early A-T from other forms of ataxia and provide a marker for monitoring treatment efficacy.