Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats.
OBJECTIVE
To seek cerebral metabolite abnormalities in patients with myotonic dystrophy and to determine whether the degree of cerebral abnormalities (measured by proton magnetic resonance spectroscopy) correlates with severity of the genetic defect (measured by trinucleotide repeats).


METHODS
Fourteen patients with myotonic dystrophy were compared with 24 healthy control subjects.


METHODS
A university-affiliated medical center.


RESULTS
Compared with healthy subjects, patients with myotonic dystrophy had elevated levels of myoinositol (+19% in the occipital region and +12.9% in the temporoparietal region), total creatine (+7.6% and +6.8%), and choline-containing compounds (+21% and +7.7%). Furthermore, the creatine and myoinositol peak areas correlated with the number of trinucleotide cytosine-thymine-guanine(n) (CTG)n repeats from leukocytes, especially in the temporoparietal brain region (r=0.76; P=.004).


CONCLUSIONS
Neurochemical alterations observed with proton magnetic resonance spectroscopy are proportional to the cytosine-thymine-guanine repeat size. Increases in myoinositol and creatine concentrations may be caused by increased glial content, while elevated levels of choline-containing compounds are most likely caused by increased glial content and cell membrane abnormalities. Proton magnetic resonance spectroscopy is a powerful noninvasive tool to study brain biochemistry, which may reflect the extent of neuropathological involvement in patients with myotonic dystrophy.
Chang
L
L
Department of Neurology, Harbor-UCLA Medical Center, Torrance, Calif 90509, USA. Linda_Chang@humc.edu
Ernst
T
T
Osborn
D
D
Seltzer
W
W
Leonido-Yee
M
M
Poland
R E
RE
D000328:Adult; D001923:Brain Chemistry; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D002794:Choline / Q000378:metabolism; D003404:Creatinine / Q000378:metabolism; D005260:Female; D006801:Humans; D007294:Inositol / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D011237:Predictive Value of Tests; D011522:Protons; D018911:Trinucleotide Repeats
D011522:Protons; D007294:Inositol; D003404:Creatinine; D002794:Choline