Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome.
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.
Ginestroni
A
A
Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Florence, Italy.
Guerrini
L
L
Della Nave
R
R
Tessa
C
C
Cellini
E
E
Dotti
M T
MT
Brunori
P
P
De Stefano
N
N
Piacentini
S
S
Mascalchi
M
M
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*
D011522:Protons