Proton MR spectroscopy in Pelizaeus-Merzbacher disease.
Proton MR spectroscopic findings in two patients with genetically defined Pelizaeus-Merzbacher disease revealed ratios of N-acetylaspartate/creatine and choline-containing compounds/creatine that were not significantly different from those found in a population of healthy subjects. These findings suggest that proton MR spectroscopy can aid in the diagnosis of Pelizaeus-Merzbacher disease.
Takanashi
J
J
Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan.
Sugita
K
K
Osaka
H
H
Ishii
M
M
Niimi
H
H
D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004734:Energy Metabolism / Q000502:physiology*; D005091:Exons; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D017354:Point Mutation / Q000235:genetics; D012016:Reference Values
D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline