Proton magnetic resonance spectroscopy of the brain in three cases of Rett syndrome: comparison with autism and normal controls.
Rett syndrome (RS) is a clinically defined disorder characterized by autistic behavior, and cognitive and motor skill loss early in life. We performed 1H-MRS of the brain in 3 cases of RS in comparison with in autism and controls. The older patient with RS demonstrated decreased N-acetylaspartate (NAA)/choline (Cho) and NAA/creatine (Cr) ratios when compared with the autism and control groups, whereas the younger patients did not demonstrate these decreased metabolite ratios. The Cho/Cr ratio did not differ among Rett syndrome, autism and controls. Since the clinical stage did not differ among the 3 cases of RS, it was suggested that NAA was decreased with increasing age and was not related with the clinical stage of RS. The NAA/Cho, NAA/Cr and Cho/Cr ratios did not differ between autism and controls. The present data suggest that there may be a secondary degenerative process of late onset in RS, which pathophysiologically differs from autism.
Hashimoto
T
T
Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, NCNP, University of Tokushima, Japan.
Kawano
N
N
Fukuda
K
K
Endo
S
S
Mori
K
K
Yoneda
Y
Y
Yamaue
T
T
Harada
M
M
Miyoshi
K
K
D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001321:Autistic Disorder / Q000175:diagnosis* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D004734:Energy Metabolism / Q000502:physiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012016:Reference Values; D015518:Rett Syndrome / Q000175:diagnosis* / Q000503:physiopathology
D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline