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<meta name="DC.Title" content="Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease" />
<meta name="DC.Date" content="2003-09-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
<meta name="DC.Rights" content="Copyright © American Society of Neuroradiology" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein ( PLP1 ) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.

METHODS: Three boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2–7 years) underwent MR and MRS imaging . All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure–posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.

RESULTS: Diffuse or focal reductions in N -acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.

CONCLUSION: Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles." />
<meta name="DC.Contributor" content="Francesca Pizzini" />
<meta name="DC.Contributor" content="Ali. S. Fatemi" />
<meta name="DC.Contributor" content="Peter B. Barker" />
<meta name="DC.Contributor" content="Lidia M. Nagae-Poetscher" />
<meta name="DC.Contributor" content="Alena Horská" />
<meta name="DC.Contributor" content="Andrew W. Zimmerman" />
<meta name="DC.Contributor" content="Hugo W. Moser" />
<meta name="DC.Contributor" content="Genila Bibat" />
<meta name="DC.Contributor" content="Sakkubai Naidu" />
<meta name="article:published_time" content="2003-09-01" />
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<meta name="citation_title" content="Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease" />
<meta name="citation_abstract" lang="en" content="&lt;p&gt;&lt;i&gt;BACKGROUND AND PURPOSE:&lt;/i&gt; Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (&lt;i&gt;PLP1&lt;/i&gt;) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.&lt;/p&gt;&lt;p&gt;&lt;i&gt;METHODS:&lt;/i&gt; Three boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2–7 years) underwent MR and MRS imaging . All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure–posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.&lt;/p&gt;&lt;p&gt;&lt;i&gt;RESULTS:&lt;/i&gt; Diffuse or focal reductions in &lt;i&gt;N&lt;/i&gt;-acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.&lt;/p&gt;&lt;p&gt;&lt;i&gt;CONCLUSION:&lt;/i&gt; Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles.&lt;/p&gt;" />
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<meta name="citation_publication_date" content="2003/09/01" />
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<meta name="twitter:title" content="Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein ( PLP1 ) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.

METHODS: Three boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2–7 years) underwent MR and MRS imaging . All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure–posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.

RESULTS: Diffuse or focal reductions in N -acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.

CONCLUSION: Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles." />
<meta name="og-title" property="og:title" content="Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease" />
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<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein ( PLP1 ) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.

METHODS: Three boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2–7 years) underwent MR and MRS imaging . All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure–posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.

RESULTS: Diffuse or focal reductions in N -acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.

CONCLUSION: Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles." />
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      <h1 class="highwire-cite-title" id="page-title">Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease</h1>  
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<div id="hw-article-author-popups-top-node-10977--81764139966" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">Francesca Pizzini </div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Francesca%2BPizzini%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pizzini%20F&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AFrancesca%2BPizzini%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">Ali. S. 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    <div class="field field-name-field-highwire-publication-history field-type-text field-label-inline clearfix"><div class="field-label">History&nbsp;</div><div class="field-items"><div class="field-item even"><ul class="publication-history"><li>Received  December 10, 2002</li><li>Accepted after revision  March 25, 2003</li><li class="published"><span class="published-label">Published online</span> September 17, 2003.</li></ul></div></div></div>  </div>

  
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    <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" class="content-block-markup" xmlns:xhtml="http://www.w3.org/1999/xhtml"><div xmlns:xhtml="http://www.w3.org/1999/xhtml" class="contributors"><ol class="contributor-list" id="contrib-group-1"><li class="contributor" id="contrib-1"><span class="name">Francesca Pizzini</span><a id="xref-aff-1-1" class="xref-aff" href="#aff-1">a</a>, </li><li class="contributor" id="contrib-2"><span class="name">Ali. S. Fatemi</span><a id="xref-aff-1-2" class="xref-aff" href="#aff-1">a</a>, </li><li class="contributor" id="contrib-3"><span class="name">Peter B. Barker</span><a id="xref-aff-1-3" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-2-1" class="xref-aff" href="#aff-2">b</a>, </li><li class="contributor" id="contrib-4"><span class="name">Lidia M. Nagae-Poetscher</span><a id="xref-aff-1-4" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-2-2" class="xref-aff" href="#aff-2">b</a>, </li><li class="contributor" id="contrib-5"><span class="name">Alena Horská</span><a id="xref-aff-2-3" class="xref-aff" href="#aff-2">b</a>, </li><li class="contributor" id="contrib-6"><span class="name">Andrew W. Zimmerman</span><a id="xref-aff-1-5" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-3-1" class="xref-aff" href="#aff-3">c</a>, </li><li class="contributor" id="contrib-7"><span class="name">Hugo W. Moser</span><a id="xref-aff-1-6" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-3-2" class="xref-aff" href="#aff-3">c</a>, </li><li class="contributor" id="contrib-8"><span class="name">Genila Bibat</span><a id="xref-aff-1-7" class="xref-aff" href="#aff-1">a</a> and </li><li class="last" id="contrib-9"><span class="name">Sakkubai Naidu</span><a id="xref-aff-1-8" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-3-3" class="xref-aff" href="#aff-3">c</a></li></ol><ol class="affiliation-list"><li class="aff"><a id="aff-1" name="aff-1"></a><address><sup>a</sup>Kennedy Krieger Institute</address></li><li class="aff"><a id="aff-2" name="aff-2"></a><address><sup>b</sup>Department of Radiology, the Johns Hopkins University School of Medicine, Baltimore, MD</address></li><li class="aff"><a id="aff-3" name="aff-3"></a><address><sup>c</sup>Department of Neurology, the Johns Hopkins University School of Medicine, Baltimore, MD</address></li></ol><ol class="corresp-list"><li class="corresp" id="corresp-1">Address reprint requests to Peter B. Barker, DPhil, Department of Radiology, MR Imaging 143C, the Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287</li></ol></div></div><a href="http://ajnr-stage2.stage.highwire.org/content/24/8/1683.full" class="hw-link hw-link-article-full-text" data-icon-position="" data-hide-link-title="0">View Full Text</a></div>  </div>

  
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    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">Francesca</span> <span class="nlm-surname">Pizzini</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">Ali. S.</span> <span class="nlm-surname">Fatemi</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Peter B.</span> <span class="nlm-surname">Barker</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">Lidia M.</span> <span class="nlm-surname">Nagae-Poetscher</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">Alena</span> <span class="nlm-surname">Horská</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">Andrew W.</span> <span class="nlm-surname">Zimmerman</span></span>, <span class="highwire-citation-author" data-delta="6"><span class="nlm-given-names">Hugo W.</span> <span class="nlm-surname">Moser</span></span>, <span class="highwire-citation-author" data-delta="7"><span class="nlm-given-names">Genila</span> <span class="nlm-surname">Bibat</span></span>, <span class="highwire-citation-author" data-delta="8"><span class="nlm-given-names">Sakkubai</span> <span class="nlm-surname">Naidu</span></span></span></div>
  
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      <div class="highwire-cite-title">Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease</div>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">Francesca</span> <span class="nlm-surname">Pizzini</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">Ali. S.</span> <span class="nlm-surname">Fatemi</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Peter B.</span> <span class="nlm-surname">Barker</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">Lidia M.</span> <span class="nlm-surname">Nagae-Poetscher</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">Alena</span> <span class="nlm-surname">Horská</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">Andrew W.</span> <span class="nlm-surname">Zimmerman</span></span>, <span class="highwire-citation-author" data-delta="6"><span class="nlm-given-names">Hugo W.</span> <span class="nlm-surname">Moser</span></span>, <span class="highwire-citation-author" data-delta="7"><span class="nlm-given-names">Genila</span> <span class="nlm-surname">Bibat</span></span>, <span class="highwire-citation-author" data-delta="8"><span class="nlm-given-names">Sakkubai</span> <span class="nlm-surname">Naidu</span></span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Sep 2003, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">24 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(8) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1683-1689; </span></div>
  
  
  
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