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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 28:486-488, March 2007
© 2007 American Society of Neuroradiology

Case Report
BRAIN

Morphometry and ¹H-MR Spectroscopy of the Brain Stem and Cerebellum in Three Patients with Fragile X-Associated Tremor/Ataxia Syndrome

A. Ginestroni^a, L. Guerrini^a, R. Della Nave^a, C. Tessa^b, E. Cellini^e, M.T. Dotti^c, P. Brunori^d, N. De Stefano^c, S. Piacentini^e and M. Mascalchi^a

^a Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Florence, Italy
^b Department of Radiology, Versilia Hospital, Pietrasanta, Lucca, Italy
^c Department of Neurology, University of Siena, Siena, Italy
^d Department of Neurophysiopathology, Silvestrini Hospital, Perugia, Italy
^e Department of Neurology, University of Florence, Florence, Italy

Please address correspondence to Mario Mascalchi, MD, PhD, Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Viale Morgagni 85, 50134 Florence, Italy; e-mail: m.mascalchi{at}dfc.unifi.it

SUMMARY: Morphometry and spectroscopy were performed in 3 patients with fragile X-associated tremor/ataxia syndrome (FXTAS). The brain stem and cerebellum were atrophic and satisfied criteria for olivopontocerebellar atrophy in 2 patients. However, the vermis was relatively spared and the basis pontis maintained its oval shape. The only spectroscopic abnormality was a decrease of the pontine N-acetylaspartate/creatine ratio in 1 patient. Atrophy and metabolic changes in FXTAS differ to some extent from those of olivopontocerebellar atrophy.