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 Ginestroni, A.
A1 Guerrini, L.
A1 Nave, R. Della
A1 Tessa, C.
A1 Cellini, E.
A1 Dotti, M.T.
A1 Brunori, P.
A1 De Stefano, N.
A1 Piacentini, S.
A1 Mascalchi, M.
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.