title: Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy.
abstract: We have performed localised proton magnetic resonance spectroscopy (MRS) of the brain on four patients with X-linked adrenoleukodystrophy (X-ALD). The spectrum is characterised at the beginning of the disease by a decrease in N-acetylaspartate and phosphocreatine-creatine content. Choline is strongly increased, and lactate can be detected in some cases. A proton signal from the CH2 groups borne by free intracellular very long chain fatty acids can also be observed. Later in the disease, the levels of all metabolites, in particular NAA, decrease significantly. The progression of neurometabolism documented by MRS correlates well with MRI and clinical progression on follow-up study. In one case, the metabolic profile recorded by proton MRS was abnormal before any change occurred on MRI. Proton MRS of the brain might be the method of choice for monitoring patients with X-ALD, to screen presumed cases and to study the effects of treatment.
authors.affiliation: Centre de Résonance Magnétique, Biologique et Médicale (CRMBM), URA CNRS 1186, Faculté de Médicine de Marseille, France.
authors.forename: S
authors.initials: S
authors.lastname: Confort-Gouny
authors.forename: J
authors.initials: J
authors.lastname: Vion-Dury
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: F
authors.initials: F
authors.lastname: Nicoli
authors.forename: P J
authors.initials: PJ
authors.lastname: Cozzone
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D002648:Child; D003401:Creatine / Q000378:metabolism*; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D010725:Phosphocreatine / Q000378:metabolism*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005227:Fatty Acids; D010725:Phosphocreatine; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine