TY - JOUR
T1 - Cerebral magnetic resonance spectroscopy in Rett syndrome Failure to detect mitochondrial disorder
AU - Nielsen, Jytte Bieber
AU - Toft, Peter Bjerre
AU - Reske-Nielsen, Edith
AU - Jensen, Karl Erik
AU - Christiansen, Pernille
AU - Thomsen, Carsten
AU - Henriksen, Ole
AU - Lou, Hans Christensen
PY - 1993/1/1
Y1 - 1993/1/1
N2 - A total of eight girls with Rett syndrome were examined, by 31phosphorous magnetic resonance spectroscopy (31P MRS) (4 girls), proton MRS (1H MRS) (4 girls), muscle biopsying (2 girls), and determination of pyruvate and lactate in plasma (5 girls), to investigate the hypothesis of a mitochondrial malfunction as the etiology for this neurologic disorder. Almost all examinations, including electron microscopy in search of structural mitochondrial abnormalities, gave normal results, the only exception being the not unexpected finding of slight neurogenic atrophy in the muscle biopsy specimen from a 15-year-old girl.
AB - A total of eight girls with Rett syndrome were examined, by 31phosphorous magnetic resonance spectroscopy (31P MRS) (4 girls), proton MRS (1H MRS) (4 girls), muscle biopsying (2 girls), and determination of pyruvate and lactate in plasma (5 girls), to investigate the hypothesis of a mitochondrial malfunction as the etiology for this neurologic disorder. Almost all examinations, including electron microscopy in search of structural mitochondrial abnormalities, gave normal results, the only exception being the not unexpected finding of slight neurogenic atrophy in the muscle biopsy specimen from a 15-year-old girl.
KW - Magnetic resonance spectroscopy
KW - Mitochondrion
KW - Rett syndrome
UR - http://www.scopus.com/inward/record.url?scp=0027295127&partnerID=8YFLogxK
U2 - 10.1016/0387-7604(93)90046-B
DO - 10.1016/0387-7604(93)90046-B
M3 - Article
C2 - 8214328
AN - SCOPUS:0027295127
SN - 0387-7604
VL - 15
SP - 107
EP - 112
JO - Brain and Development
JF - Brain and Development
IS - 2
ER -