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<meta name="DC.Title" content="Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up" />
<meta name="DC.Identifier" content="10.3174/ajnr.A1694" />
<meta name="DC.Date" content="2009-11-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease.

MATERIALS AND METHODS: Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the χ2 test.

RESULTS: Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal ( P = .024) and temporal ( P = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time.

CONCLUSIONS: The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome." />
<meta name="DC.Contributor" content="C. Uggetti" />
<meta name="DC.Contributor" content="R. La Piana" />
<meta name="DC.Contributor" content="S. Orcesi" />
<meta name="DC.Contributor" content="M.G. Egitto" />
<meta name="DC.Contributor" content="Y.J. Crow" />
<meta name="DC.Contributor" content="E. Fazzi" />
<meta name="article:published_time" content="2009-11-01" />
<meta name="article:section" content="Pediatrics" />
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<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the χ&lt;sup&gt;2&lt;/sup&gt; test.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal (&lt;i&gt;P&lt;/i&gt; = .024) and temporal (&lt;i&gt;P&lt;/i&gt; = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome.&lt;/p&gt;" />
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MATERIALS AND METHODS: Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the χ2 test.

RESULTS: Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal ( P = .024) and temporal ( P = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time.

CONCLUSIONS: The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome." />
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<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease.

MATERIALS AND METHODS: Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the χ2 test.

RESULTS: Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal ( P = .024) and temporal ( P = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time.

CONCLUSIONS: The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome." />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node8357--5" data-node-nid="8357" id="top-node-8357--61511705691" data-pisa="ajnr;30/10/1971" data-pisa-master="ajnr;ajnr.A1694" data-apath="/ajnr/30/10/1971.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">Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">C. Uggetti</span>, <span class="highwire-citation-author" data-delta="1">R. La Piana</span>, <span class="highwire-citation-author" data-delta="2">S. Orcesi</span>, <span class="highwire-citation-author" data-delta="3">M.G. Egitto</span>, <span class="highwire-citation-author" data-delta="4">Y.J. Crow</span> and <span class="highwire-citation-author" data-delta="5">E. Fazzi</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 2009,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">30 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(10) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1971-1976; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A1694 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-8357--61511705691" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">C. Uggetti </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=C.%2BUggetti%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=Uggetti%20C&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%3AC.%2BUggetti%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">R. 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Orcesi </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=S.%2BOrcesi%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=Orcesi%20S&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%3AS.%2BOrcesi%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-3"><div class="author-tooltip-name">M.G. Egitto </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.G.%2BEgitto%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=Egitto%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 last"><a href="/search/author1%3AM.G.%2BEgitto%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-4"><div class="author-tooltip-name">Y.J. Crow </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=Y.J.%2BCrow%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=Crow%20Y&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%3AY.J.%2BCrow%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-5"><div class="author-tooltip-name">E. 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                  <em>Online Table 1:</em>  Clinical data of the sample<br/><br/>
                  
                  <em>Online Table 2:</em>  Spatial distribution and symmetry of cerebral calcifications<br/><br/>
                  
                  <em>Online Table 3:</em>  Spatial distribution and severity of white matter abnormalities<br/><br/>
                  
                  <em>Online Table 4:</em>  Neuroradiologic follow-up of 19 subjects with AGS
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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 30</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 10 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Nov 2009 </div></div>
      
      
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      <div class="highwire-cite-title">Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up</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">C.</span> <span class="nlm-surname">Uggetti</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">R.</span> <span class="nlm-surname">La Piana</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">S.</span> <span class="nlm-surname">Orcesi</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">M.G.</span> <span class="nlm-surname">Egitto</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">Y.J.</span> <span class="nlm-surname">Crow</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">E.</span> <span class="nlm-surname">Fazzi</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">Nov 2009, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">30 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(10) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1971-1976; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A1694 </span></div>
  
  
  
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      <div class="highwire-cite-title">Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up</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">C.</span> <span class="nlm-surname">Uggetti</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">R.</span> <span class="nlm-surname">La Piana</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">S.</span> <span class="nlm-surname">Orcesi</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">M.G.</span> <span class="nlm-surname">Egitto</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">Y.J.</span> <span class="nlm-surname">Crow</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">E.</span> <span class="nlm-surname">Fazzi</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">Nov 2009, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">30 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(10) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1971-1976; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A1694 </span></div>
  
  
  
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