RT Journal Article
SR Electronic
T1 Morphometry and <sup>1</sup>H-MR Spectroscopy of the Brain Stem and Cerebellum in Three Patients with Fragile X-Associated Tremor/Ataxia Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 486
OP 488
VO 28
IS 3
A1 A. Ginestroni
A1 L. Guerrini
A1 R. Della Nave
A1 C. Tessa
A1 E. Cellini
A1 M.T. Dotti
A1 P. Brunori
A1 N. De Stefano
A1 S. Piacentini
A1 M. Mascalchi
YR 2007
UL http://www.ajnr.org/content/28/3/486.abstract
AB 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.