title: Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome.
abstract: 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.
authors.affiliation: Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Florence, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ginestroni
authors.forename: L
authors.initials: L
authors.lastname: Guerrini
authors.forename: R
authors.initials: R
authors.lastname: Della Nave
authors.forename: C
authors.initials: C
authors.lastname: Tessa
authors.forename: E
authors.initials: E
authors.lastname: Cellini
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: P
authors.initials: P
authors.lastname: Brunori
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: S
authors.initials: S
authors.lastname: Piacentini
authors.forename: M
authors.initials: M
authors.lastname: Mascalchi
mesh_terms: D000368:Aged; D001259:Ataxia / Q000209:etiology / Q000473:pathology*; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D003937:Diagnosis, Differential; D005600:Fragile X Syndrome / Q000150:complications / Q000473:pathology*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D011522:Protons; D014202:Tremor / Q000209:etiology / Q000473:pathology*
chemical_list: D011522:Protons