title: Proton magnetic resonance spectroscopy of the brain in patients with Prader-Willi syndrome.
abstract: Five patients with Prader-Willi syndrome underwent magnetic resonance imaging and proton magnetic resonance spectroscopy. Magnetic resonance images revealed mild abnormalities, including slight ventriculomegaly, cortical atrophy, and a small brainstem, in all cases. The N-acetylaspartate/Choline (NAA/Cho) and N-acetylaspartate/Creatine (NAA/Cr) ratios were decreased in one (Case 1) and two (Cases 1 and 4) patients, respectively. The Choline/Creatine (Cho/Cr) ratio did not differ from those in control subjects. Thus, in patients with Prader-Willi syndrome, it is thought that there may be neuron loss or a neuron dysfunction caused by a chromosome abnormality. Statistically significant relationships were observed between IQ (DQ) and the NAA/Cho and Cho/Cr ratios: r = 0.895 (P < .05, NAA/Cho ratio) and r = -0.898 (P < .05, Cho/Cr ratio). This suggests that the parietal lobe pathology detected on 1H-magnetic resonance spectroscopy may be associated with more global brain damage and with loss of cognitive functions.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: Y
authors.initials: Y
authors.lastname: Yoneda
authors.forename: T
authors.initials: T
authors.lastname: Yamaue
authors.forename: M
authors.initials: M
authors.lastname: Miyazaki
authors.forename: M
authors.initials: M
authors.lastname: Harada
authors.forename: H
authors.initials: H
authors.lastname: Miyoshi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D016014:Linear Models; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000378:metabolism; D011522:Protons
chemical_list: D011522:Protons