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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease

Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat and Sakkubai Naidu
American Journal of Neuroradiology September 2003, 24 (8) 1683-1689;
Francesca Pizzini
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Ali. S. Fatemi
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Peter B. Barker
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Lidia M. Nagae-Poetscher
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Alena Horská
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Andrew W. Zimmerman
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Hugo W. Moser
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Genila Bibat
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Sakkubai Naidu
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    Fig 1.

    Regions of interest (squares) in the frontal-lobe white matter, centrum semiovale, and parietal white matter and gray matter were chosen for analysis.

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    Fig 2.

    Severe PMD. T2-weighted MR images (T2); metabolic images of Cho, Cr and NAA; and selected spectra from the parietal white matter (WM) and parieto-occipital gray matter (GM). T2-weighted MR images show diffuse hyperintensity throughout the white matter, which also has markedly decreased NAA levels. Cho and Cr levels are also mildly elevated in the centrum semiovale. Gray matter spectra also show a lower ratio of NAA/Cho and NAA/Cr in the patient compared with that in the control subject.

    A, Patient 1, aged 2 years 5 months.

    B, Control subject 1, aged 1 year 9 months.

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    Fig 3.

    Mild PMD. T2-weighted MR imaging; metabolic images of Cho, Cr, and NAA; and selected spectra from the parietal white matter and parieto-occipital gray matter. T2-weighted MR images show patchy hyperintensity with greatest involvement in the centrum semiovale. NAA levels are bilaterally decreased in the parietal white matter. Gray-matter spectra are normal.

    A, Patient 2, aged 3 years 8 months.

    B, Control subject 2, aged 3 year 2 months.

Tables

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    TABLE 1:

    Summary of findings from prior MR spectroscopic studies of PMD

    StudyNo. of PatientsAge, yGeneticsTechnique*Findings
    Grodd et al, 199140.7–5.7Not givenSV MRS, ratios2 patterns: increased Cho and decreased NAA levels or decreased Cho and normal NAA levels
    Takanashi et al, 199725, 6Point mutations: exon 5 (Pro210(4)→Leu[CTA]), exon 2 (Leu45[CTA]→Arg[CGA])SV MRS, ratiosNormal MRS results, trend for increased creatine levels
    Lam et al, 1998119Not givenSV MRS, quantitationSlightly decreased NAA level in basal ganglia
    Spalice et al, 200021.5, 6Connatal PMD, no mutation or duplication detectedSV MRS, ratiosDecreased Cho level
    Bonavita et al, 200196–43Duplication (n=1), mutations G431A (n=6) and K150N (n=2)MRSI, ratiosDecreased NAA level
    Garbern et al, 2002211, 17Deletion, mutation (G to A)MRS, MRSI, quantitationDecreased NAA level
    Hobson et al, 2002111Deletion 19 base pairs intron 3 PLP1/DM20SV MRS, ratiosIncreased Cho, decreased NAA levels
    Takanashi et al, 200254–10Duplication (classic PMD, mild form, n=4; severe connatal form, n = 1)SV MRS, quantitationMildly increased NAA, creatine, and myo-inositol levels; normal Cho level
    • * MRS indicates MR spectroscopy; SV, single voxel.

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    TABLE 2:

    Metabolite ratios

    IndividualMetabolite Levels Relative to Gray MatterMetabolite Ratios
    ChoCrNAANAA/ChoNAA/CrCho/Cr
    A. Frontal white matter
    Patient 11.171.190.841.161.631.41
    Patient 21.281.011.021.622.631.63
    Patient 31.680.950.871.272.321.83
    Control subject 11.641.000.811.092.172.00
    Control subject 21.510.920.941.262.572.03
    Control subject 31.140.610.851.894.172.21
    B. Centrum semiovale
    Patient 11.381.110.740.871.551.79
    Patient 21.280.950.891.422.431.71
    Patient 31.611.020.961.462.381.63
    Control subject 11.350.810.821.342.712.03
    Control subject 21.380.850.991.462.901.99
    Control subject 31.550.850.991.613.462.15
    C: Parietal white matter
    Patient 11.311.030.610.761.371.81
    Patient 21.130.970.931.692.501.48
    Patient 31.651.030.811.201.981.66
    Control subject 11.420.920.841.292.421.87
    Control subject 21.420.840.961.372.842.07
    Control subject 31.450.660.841.463.802.60
    D: Parieto-occipital gray matter*
    Patient 1NANANA1.612.311.43
    Patient 2NANANA2.032.601.28
    Patient 3NANANA2.442.521.04
    Control subject 1NANANA2.192.671.22
    Control subject 2NANANA2.032.501.23
    Control subject 3NANANA2.522.991.18
    • Note.—Patient 1 was aged 2 years 5 months; patient 2, 3 years, 8 months; patient 3, 7 years, 6 months; control subject 1, 1 year, 9 months; control subject 2, 3 years, 2 months; and control subject 3, 7 years, 0 months.

    • * NA indicates not applicable.

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American Journal of Neuroradiology: 24 (8)
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Cite this article
Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat, Sakkubai Naidu
Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
American Journal of Neuroradiology Sep 2003, 24 (8) 1683-1689;

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Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat, Sakkubai Naidu
American Journal of Neuroradiology Sep 2003, 24 (8) 1683-1689;
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