Ginestroni A, Guerrini L, Della Nave R, Tessa C, Cellini E, Dotti M T, Brunori P, De Stefano N, Piacentini S, Mascalchi M
Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Florence, Italy.
AJNR Am J Neuroradiol. 2007 Mar;28(3):486-8.
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.
