title: Brain MR spectroscopic abnormalities in "MRI-negative" tuberous sclerosis complex patients.
abstract: Since approximately 5-10% of the ~50,000 tuberous sclerosis complex (TSC) patients in the US are "MRI-negative," our goal was to test the hypothesis that they nevertheless exhibit metabolic abnormalities. To test this, we used proton MR spectroscopy to obtain and compare gray and white matter (GM and WM) levels of the neuronal marker, N-acetylaspartate (NAA), the glial marker, myo-inositol (mI), and its associated creatine (Cr), and choline (Cho) between two "MRI-negative" female TSC patients (ages 5 and 43 years) and their matched controls. The NAA, Cr, Cho and mI concentrations, 9.8, 6.3, 1.4, and 5.7 mM, in the pediatric control were similar to those of the patients, whereas the adult patient revealed a 17% WM NAA decrease and 16% WM Cho increase from their published means for healthy adults - both outside their respective 90% prediction intervals. These findings suggest that longer disease duration and/or TSC2 gene mutation may cause axonal dysfunction and demyelination.
authors.affiliation: Department of Radiology, New York University School of Medicine, New York, NY 10016, USA.
authors.forename: William E
authors.initials: WE
authors.lastname: Wu
authors.forename: Ivan I
authors.initials: II
authors.lastname: Kirov
authors.forename: Assaf
authors.initials: A
authors.lastname: Tal
authors.forename: James S
authors.initials: JS
authors.lastname: Babb
authors.forename: Sarah
authors.initials: S
authors.lastname: Milla
authors.forename: Joseph
authors.initials: J
authors.lastname: Oved
authors.forename: Howard L
authors.initials: HL
authors.lastname: Weiner
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
authors.forename: Oded
authors.initials: O
authors.lastname: Gonen
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D014402:Tuberous Sclerosis / Q000378:metabolism* / Q000473:pathology; D055815:Young Adult
chemical_list: D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline