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Neuropediatrics 2006; 37(4): 241-246
DOI: 10.1055/s-2006-924722
Original Article

Georg Thieme Verlag KG Stuttgart · New York

Proton MR Spectroscopic Imaging in Ataxia-Telangiectasia

D. D. M. Lin1 , T. O. Crawford2 , 3 , H. M. Lederman3 , 4 , P. B. Barker1 , 5
  • 1Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
  • 2Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
  • 3Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
  • 4Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
  • 5F. M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, MD 21205, USA
Further Information

Publication History

Received: March 13, 2006

Accepted after Revision: September 18, 2006

Publication Date:
20 December 2006 (online)

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Abstract

Object: Ataxia-telangiectasia (A-T) is a recessively inherited neurodegenerative disorder with prominent progressive ataxia and cerebellar degeneration, as well as manifest abnormalities of tone, posture, and movement suggesting extrapyramidal dysfunction. In this study, we tested the hypothesis that regional metabolite levels, as measured by proton magnetic resonance spectroscopic imaging, would be abnormal in patients with A-T in the posterior fossa and basal ganglia, reflecting the underlying neurodegenerative processes in these regions. Methods: Spectroscopic images of N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr) were obtained in 8 patients with A-T and 8 age-matched controls. Normalized metabolite levels were compared between A-T patients and control subjects in various regions of interest, including the cerebellum, brainstem, and basal ganglia. Results: A-T patients were distinguished from controls by the profound loss of all metabolites in the cerebellar vermis (NAA, p < 0.01; Cr and Cho, p < 0.05) and a trend for decreased metabolites within the cerebellar hemispheres. No abnormalities were detected in the basal ganglia. Conclusions: Proton MR spectroscopic features in A-T closely correlate with the morphologic neuroimaging findings of posterior fossa atrophy. Although symptoms suggesting extrapyramidal dysfunction are part of the A-T phenotype, these are not associated with altered metabolite levels in the basal ganglia.

Key words

Ataxia-Telangiectasia - brain - magnetic resonance imaging - magnetic resonance spectroscopy - metabolism

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M.D. Ph.D. Doris D. M. Lin

Division of Neuroradiology
The Johns Hopkins University School of Medicine

600 North Wolfe Street

Baltimore, MD 21287

USA

Email: ddmlin@jhmi.edu