title: Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo.
abstract: The brain morphology and chemistry of seven children with late infantile (4/7) and juvenile (3/7) forms of metachromatic leukodystrophy (MLD) were investigated by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). Patients who were examined at least 6 months after the onset of symptoms (6/7) had severe leukodystrophic changes on MRI. Proton MRS revealed a marked reduction of the neuronal marker N-acetylaspartate in white and grey matter and elevated lactate in demyelinated areas. In contrast to other leukodystrophies MLD patients showed a generalized increase of brain myo-inositol (2- to 3-fold in white matter), indicating a specific role in the pathophysiology of demyelination in MLD.
authors.affiliation: Universitätskinderklinik, Schwerpunkt Neuropädiatrie, Göttingen, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Kruse
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: H J
authors.initials: HJ
authors.lastname: Christen
authors.forename: H
authors.initials: H
authors.lastname: Bruhn
authors.forename: T
authors.initials: T
authors.lastname: Michaelis
authors.forename: W
authors.initials: W
authors.lastname: Hänicke
authors.forename: J
authors.initials: J
authors.lastname: Frahm
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D016026:Bone Marrow Transplantation; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D005260:Female; D005971:Glutamates / Q000032:analysis; D018698:Glutamic Acid; D006801:Humans; D007294:Inositol / Q000032:analysis; D007773:Lactates / Q000032:analysis; D019344:Lactic Acid; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D010725:Phosphocreatine / Q000032:analysis; D011184:Postoperative Period
chemical_list: D005971:Glutamates; D007773:Lactates; D010725:Phosphocreatine; D001224:Aspartic Acid; D019344:Lactic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline