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AJNR - American Journal of Neuroradiology

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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

View larger version (135K): [in this window] [in a new window]   Fig 1. MR imaging and 1H-MR spectroscopy in a patient with FXTAS (case 1). Sagittal T1-weighted gradient recalled-echo image (TR = 25 ms, TE = 4.6 ms, flip angle = 30°; 1 NEX) (A) shows diffuse brain atrophy with sparing of the oval shape of the basis pontis. Axial T2-weighted spin-echo images (TR = 2400 ms, TE = 200 ms, 1 NEX) (B and C) show symmetric hyperintensity in the middle cerebellar peduncles (arrows in B) and diffuse hyperintensity in the cerebral periventricular white matter (C). 1H-MR spectroscopy of the pons (D) shows decreased NAA/Cr ratio and a normal Cho/Cr ratio.

View larger version (76K): [in this window] [in a new window]   Fig 2. MR imaging and 1H-MR spectroscopy in a patient with FXTAS (case 2). Sagittal T1-weighted gradient recalled-echo image (TR = 25 ms, TE = 4.6 ms, flip angle = 30°, 1 NEX) (A) shows diffuse brain atrophy with sparing of the oval shape of the basis pontis, which exhibits a diffuse low signal intensity. Axial T2-weighted spin-echo images (TR = 2400 ms, TE = 200 ms, 1 NEX) (B and C) show symmetric hyperintensity in the pons and middle cerebellar peduncles and diffuse hyperintensity in the cerebral periventricular white matter (C). 1H-MR spectroscopy of the pons (D), right dentate and peridentate white matter (E), and superior vermis (F) shows normal metabolite ratios.