title: Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome.
abstract: Fragile X syndrome (FXS) is the most common hereditary disorder of intellectual disability. Cognitive deficits involve executive function, attention, learning and memory. Advanced neuroimaging techniques are available, and (1)H magnetic resonance spectroscopy (MRS) can be used as a complementary method to MR imaging to understand disease processes in brain, by in vivo demonstration of brain metabolites. MRS was performed in 13 male patients with FXS full mutation, and 13 age- and sex-matched healthy controls. FXS diagnosis was based on clinical evaluation, followed by detection of FMR1 full mutation. Axial T2 TSE, sagittal T1 SE and coronal 3D MPRAGE images were obtained for both morphological imaging and voxel localization. Following evaluation of conventional images, multivoxel MRS (CSI) through supraventricular white matter and single voxel MRS (svs) with an intermediate echo time (TE:135 ms) from the cerebellar vermis were performed. Choline/Creatine (Cho/Cr), N-acetyl aspartate/Creatine (NAA/Cr), and Choline/N-acetyl aspartate (Cho/NAA) ratios were examined at right frontal (RF), left frontal (LF), right parietal (RP), left parietal (LP), and cerebellar vermian (C) white matter. Statistical analyses were done using t-test and Mann-Whitney U tests. A statistically significant difference was observed in RP Cho/NAA ratio (cell membrane marker/neuroaxonal marker), FXS patients having lower levels than controls (P = 0.016). The results should be evaluated cautiously in parallel to consequences in brain metabolism leading to alterations in neurotransmitter levels, osmoregulation, energy metabolism and oxidative stress response described in animal models. MRS may serve to define a metabolic signature and biomarkers associated with FXS.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: G E
authors.initials: GE
authors.lastname: Utine
authors.forename: B
authors.initials: B
authors.lastname: Akpınar
authors.forename: U
authors.initials: U
authors.lastname: Arslan
authors.forename: P Ö Ş
authors.initials: PÖ
authors.lastname: Kiper
authors.forename: B
authors.initials: B
authors.lastname: Volkan-Salancı
authors.forename: Y
authors.initials: Y
authors.lastname: Alanay
authors.forename: D
authors.initials: D
authors.lastname: Aktaş
authors.forename: G
authors.initials: G
authors.lastname: Haliloğlu
authors.forename: K K
authors.initials: KK
authors.lastname: Oğuz
authors.forename: K
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: M
authors.initials: M
authors.lastname: Alikaşifoğlu
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D055442:Metabolome; D055432:Metabolomics / Q000379:methods
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline
keywords: N-acetyl aspartate; brain; choline; fragile X syndrome; magnetic resonance spectroscopy