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<meta name="DC.Title" content="Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria" />
<meta name="DC.Identifier" content="10.3174/ajnr.A6288" />
<meta name="DC.Date" content="2019-11-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Aspartylglucosaminuria is a rare lysosomal storage disorder that causes slowly progressive, childhood-onset intellectual disability and motor deterioration. Previous studies have shown, for example, hypointensity in the thalami in patients with aspartylglucosaminuria on T2WI, especially in the pulvinar nuclei. Susceptibility-weighted imaging is a neuroimaging technique that uses tissue magnetic susceptibility to generate contrast and is able to visualize iron and other mineral deposits in the brain. SWI findings in aspartylglucosaminuria have not been reported previously.

MATERIALS AND METHODS: Twenty-one patients with aspartylglucosaminuria (10 girls; 7.4–15.0 years of age) underwent 3T MR imaging. The protocol included an SWI sequence, and the images were visually evaluated. Thirteen patients (6 girls, 7.4–15.0 years of age) had good-quality SWI. Eight patients had motion artifacts and were excluded from the visual analysis. Thirteen healthy children (8 girls, 7.3–14.1 years of age) were imaged as controls.

RESULTS: We found a considerably uniform distribution of decreased signal intensity in SWI in the thalamic nuclei in 13 patients with aspartylglucosaminuria. The most evident hypointensity was found in the pulvinar nuclei. Patchy hypointensities were also found especially in the medial and anterior thalamic nuclei. Moreover, some hypointensity was noted in globi pallidi and substantia nigra in older patients. The filtered-phase images indicated accumulation of paramagnetic compounds in these areas. No abnormal findings were seen in the SWI of the healthy controls.

CONCLUSIONS: SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.

AGA 
:   aspartylglucosaminidase 
AGU
:   aspartylglucosaminuria
SI
:   signal intensity" />
<meta name="DC.Contributor" content="A. Tokola" />
<meta name="DC.Contributor" content="M. Laine" />
<meta name="DC.Contributor" content="R. Tikkanen" />
<meta name="DC.Contributor" content="T. Autti" />
<meta name="article:published_time" content="2019-11-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Aspartylglucosaminuria is a rare lysosomal storage disorder that causes slowly progressive, childhood-onset intellectual disability and motor deterioration. Previous studies have shown, for example, hypointensity in the thalami in patients with aspartylglucosaminuria on T2WI, especially in the pulvinar nuclei. Susceptibility-weighted imaging is a neuroimaging technique that uses tissue magnetic susceptibility to generate contrast and is able to visualize iron and other mineral deposits in the brain. SWI findings in aspartylglucosaminuria have not been reported previously.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Twenty-one patients with aspartylglucosaminuria (10 girls; 7.4–15.0 years of age) underwent 3T MR imaging. The protocol included an SWI sequence, and the images were visually evaluated. Thirteen patients (6 girls, 7.4–15.0 years of age) had good-quality SWI. Eight patients had motion artifacts and were excluded from the visual analysis. Thirteen healthy children (8 girls, 7.3–14.1 years of age) were imaged as controls.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;We found a considerably uniform distribution of decreased signal intensity in SWI in the thalamic nuclei in 13 patients with aspartylglucosaminuria. The most evident hypointensity was found in the pulvinar nuclei. Patchy hypointensities were also found especially in the medial and anterior thalamic nuclei. Moreover, some hypointensity was noted in globi pallidi and substantia nigra in older patients. The filtered-phase images indicated accumulation of paramagnetic compounds in these areas. No abnormal findings were seen in the SWI of the healthy controls.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.&lt;/p&gt;" />
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<meta name="twitter:title" content="Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Aspartylglucosaminuria is a rare lysosomal storage disorder that causes slowly progressive, childhood-onset intellectual disability and motor deterioration. Previous studies have shown, for example, hypointensity in the thalami in patients with aspartylglucosaminuria on T2WI, especially in the pulvinar nuclei. Susceptibility-weighted imaging is a neuroimaging technique that uses tissue magnetic susceptibility to generate contrast and is able to visualize iron and other mineral deposits in the brain. SWI findings in aspartylglucosaminuria have not been reported previously.

MATERIALS AND METHODS: Twenty-one patients with aspartylglucosaminuria (10 girls; 7.4–15.0 years of age) underwent 3T MR imaging. The protocol included an SWI sequence, and the images were visually evaluated. Thirteen patients (6 girls, 7.4–15.0 years of age) had good-quality SWI. Eight patients had motion artifacts and were excluded from the visual analysis. Thirteen healthy children (8 girls, 7.3–14.1 years of age) were imaged as controls.

RESULTS: We found a considerably uniform distribution of decreased signal intensity in SWI in the thalamic nuclei in 13 patients with aspartylglucosaminuria. The most evident hypointensity was found in the pulvinar nuclei. Patchy hypointensities were also found especially in the medial and anterior thalamic nuclei. Moreover, some hypointensity was noted in globi pallidi and substantia nigra in older patients. The filtered-phase images indicated accumulation of paramagnetic compounds in these areas. No abnormal findings were seen in the SWI of the healthy controls.

CONCLUSIONS: SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.

AGA 
:   aspartylglucosaminidase 
AGU
:   aspartylglucosaminuria
SI
:   signal intensity" />
<meta name="og-title" property="og:title" content="Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/40/11/1850" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Aspartylglucosaminuria is a rare lysosomal storage disorder that causes slowly progressive, childhood-onset intellectual disability and motor deterioration. Previous studies have shown, for example, hypointensity in the thalami in patients with aspartylglucosaminuria on T2WI, especially in the pulvinar nuclei. Susceptibility-weighted imaging is a neuroimaging technique that uses tissue magnetic susceptibility to generate contrast and is able to visualize iron and other mineral deposits in the brain. SWI findings in aspartylglucosaminuria have not been reported previously.

MATERIALS AND METHODS: Twenty-one patients with aspartylglucosaminuria (10 girls; 7.4–15.0 years of age) underwent 3T MR imaging. The protocol included an SWI sequence, and the images were visually evaluated. Thirteen patients (6 girls, 7.4–15.0 years of age) had good-quality SWI. Eight patients had motion artifacts and were excluded from the visual analysis. Thirteen healthy children (8 girls, 7.3–14.1 years of age) were imaged as controls.

RESULTS: We found a considerably uniform distribution of decreased signal intensity in SWI in the thalamic nuclei in 13 patients with aspartylglucosaminuria. The most evident hypointensity was found in the pulvinar nuclei. Patchy hypointensities were also found especially in the medial and anterior thalamic nuclei. Moreover, some hypointensity was noted in globi pallidi and substantia nigra in older patients. The filtered-phase images indicated accumulation of paramagnetic compounds in these areas. No abnormal findings were seen in the SWI of the healthy controls.

CONCLUSIONS: SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.

AGA 
:   aspartylglucosaminidase 
AGU
:   aspartylglucosaminuria
SI
:   signal intensity" />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node71292--5" data-node-nid="71292" id="top-node-71292--61602882059" data-pisa="ajnr;40/11/1850" data-pisa-master="ajnr;ajnr.A6288" data-apath="/ajnr/40/11/1850.atom" data-hw-author-tooltip-instance="highwire_author_tooltip"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-jcore-article-title-complete clearfix has-author-tooltip highwire-citation-highwire-article-top-a">
  
  
      <div class="highwire-cite-overline"><span  class="highwire-cite-metadata-article-type highwire-cite-metadata">Research Article</span><span class="separator-pipe"></span><span  class="highwire-cite-metadata-art-cat highwire-cite-metadata"><span class="wrapper">Pediatrics</span></span></div>
  
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      <h1 class="highwire-cite-title" id="page-title">Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">A. Tokola</span>, <span class="highwire-citation-author" data-delta="1">M. Laine</span>, <span class="highwire-citation-author" data-delta="2">R. Tikkanen</span> and <span class="highwire-citation-author" data-delta="3">T. Autti</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">November 2019,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">40 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1850-1854; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A6288 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-71292--61602882059" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">A. Tokola </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the HUS Medical Imaging Center, Radiology (A.T., T.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland</div></span></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=A.%2BTokola%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=Tokola%20A&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"><a href="/search/author1%3AA.%2BTokola%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0002-5135-2191" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for A. Tokola</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">M. Laine </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Department of Child Neurology (M.L.), Helsinki University Hospital, Helsinki, Finland</div></span></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=M.%2BLaine%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=Laine%20M&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"><a href="/search/author1%3AM.%2BLaine%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0003-3337-3500" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for M. Laine</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">R. Tikkanen </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Institute of Biochemistry, Medical Faculty (R.T.), University of Giessen, Giessen, Germany</div></span></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=R.%2BTikkanen%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=Tikkanen%20R&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"><a href="/search/author1%3AR.%2BTikkanen%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0002-8393-1825" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for R. Tikkanen</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">T. Autti </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the HUS Medical Imaging Center, Radiology (A.T., T.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland</div></span></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=T.%2BAutti%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=Autti%20T&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"><a href="/search/author1%3AT.%2BAutti%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0001-9065-9818" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for T. Autti</a></li></ul></div></div></div>  </div>

  
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    <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" xmlns:xhtml="http://www.w3.org/1999/xhtml" class="section ref-list" id="ref-list-1"><h2 class="">References</h2><ol class="cit-list ref-use-labels"><li><span class="ref-label">1.</span><a class="rev-xref-ref" href="#xref-ref-1-1" title="View reference 1. in text" id="ref-1">↵</a><div class="cit ref-cit ref-journal" id="cit-40.11.1850.1" data-doi="10.1186/s13023-016-0544-6"><div class="cit-metadata"><ol class="cit-auth-list"><li>
</li><li><span class="cit-auth"><span class="cit-name-surname">Arvio</span>  <span class="cit-name-given-names">M</span></span>, </li><li><span class="cit-auth"><span class="cit-name-surname">Mononen</span>  <span class="cit-name-given-names">I</span></span></li></ol><cite>. <span class="cit-article-title">Aspartylglycosaminuria: a review</span>. <abbr class="cit-jnl-abbrev">Orphanet J Rare Dis</abbr> <span class="cit-pub-date">2016</span>;<span class="cit-vol">11</span>:<span class="cit-fpage">162</span><span class="cit-pub-id-sep cit-pub-id-doi-sep"> </span><span class="cit-pub-id cit-pub-id-doi"><span class="cit-pub-id-scheme-doi">doi:</span>10.1186/s13023-016-0544-6</span><span class="cit-pub-id-sep cit-pub-id-pmid-sep"> </span><span class="cit-pub-id cit-pub-id-pmid"><span class="cit-pub-id-scheme-pmid">pmid:</span>27906067</span></cite></div><div class="cit-extra"><a href="/lookup/external-ref?access_num=10.1186/s13023-016-0544-6&amp;link_type=DOI" class="cit-ref-sprinkles cit-ref-sprinkles-doi cit-ref-sprinkles-crossref"><span>CrossRef</span></a><a href="/lookup/external-ref?access_num=27906067&amp;link_type=MED&amp;atom=%2Fajnr%2F40%2F11%2F1850.atom" class="cit-ref-sprinkles cit-ref-sprinkles-medline"><span>PubMed</span></a></div></div></li><li><span class="ref-label">2.</span><a class="rev-xref-ref" href="#xref-ref-2-1" title="View reference 2. in text" id="ref-2">↵</a><div class="cit ref-cit ref-journal" id="cit-40.11.1850.2" data-doi="10.1002/jimd.12159"><div class="cit-metadata"><ol class="cit-auth-list"><li>
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          <a href="/content/40/11" class="highwire-cite-linked-title" data-icon-position="" data-hide-link-title="0"><span class="highwire-cite-title">American Journal of Neuroradiology</span></a>      
      
        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 40</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 11 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Nov 2019 </div></div>
      
      
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