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<meta name="DC.Title" content="Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations" />
<meta name="DC.Identifier" content="10.3174/ajnr.A5823" />
<meta name="DC.Date" content="2018-11-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.

MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported.

RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent “squeezing” of the cerebral peduncles in 85% of the patients.

CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis." />
<meta name="DC.Contributor" content="F. D'Arco" />
<meta name="DC.Contributor" content="C.A. Alves" />
<meta name="DC.Contributor" content="C. Raybaud" />
<meta name="DC.Contributor" content="W.K.K. Chong" />
<meta name="DC.Contributor" content="G.E. Ishak" />
<meta name="DC.Contributor" content="S. Ramji" />
<meta name="DC.Contributor" content="M. Grima" />
<meta name="DC.Contributor" content="A.J. Barkovich" />
<meta name="DC.Contributor" content="V. Ganesan" />
<meta name="article:published_time" content="2018-11-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;&lt;i&gt;Arg179His&lt;/i&gt; mutations in &lt;i&gt;ACTA2&lt;/i&gt; are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Neuroimaging studies from 13 patients with heterozygous &lt;i&gt;Arg179His&lt;/i&gt; mutations in &lt;i&gt;ACTA2&lt;/i&gt; and 1 patient with pathognomonic clinicoradiologic findings for &lt;i&gt;ACTA2&lt;/i&gt; mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent “squeezing” of the cerebral peduncles in 85% of the patients.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.&lt;/p&gt;" />
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<meta name="citation_author" content="F. D'Arco" />
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<meta name="citation_author" content="C. Raybaud" />
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<meta name="citation_author" content="W.K.K. Chong" />
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<meta name="citation_author" content="S. Ramji" />
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<meta name="twitter:title" content="Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.

MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported.

RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent “squeezing” of the cerebral peduncles in 85% of the patients.

CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis." />
<meta name="og-title" property="og:title" content="Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/39/11/2126" />
<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: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.

MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported.

RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent “squeezing” of the cerebral peduncles in 85% of the patients.

CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis." />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node63892--5" data-node-nid="63892" id="top-node-63892--6466643848" data-pisa="ajnr;39/11/2126" data-pisa-master="ajnr;ajnr.A5823" data-apath="/ajnr/39/11/2126.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>
  
      <div class="highwire-cite-access"><span class="highwire-citation-access"><i class="highwire-access-icon highwire-access-icon-open-access open-access hw-icon-open-access" title="Open Access" aria-hidden="true"></i><span  class="element-invisible highwire-access-icon highwire-access-icon-open-access" style="">Open Access</span></span></div>
  
      <h1 class="highwire-cite-title" id="page-title">Expanding the Distinctive Neuroimaging Phenotype of <em>ACTA2</em> Mutations</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">F. D'Arco</span>, <span class="highwire-citation-author" data-delta="1">C.A. Alves</span>, <span class="highwire-citation-author" data-delta="2">C. Raybaud</span>, <span class="highwire-citation-author" data-delta="3">W.K.K. Chong</span>, <span class="highwire-citation-author" data-delta="4">G.E. Ishak</span>, <span class="highwire-citation-author" data-delta="5">S. Ramji</span>, <span class="highwire-citation-author" data-delta="6">M. Grima</span>, <span class="highwire-citation-author" data-delta="7">A.J. Barkovich</span> and <span class="highwire-citation-author" data-delta="8">V. Ganesan</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 2018,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">39 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2126-2131; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A5823 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-63892--6466643848" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">F. D'Arco </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Radiology (F.D'A., W.K.K.C.)</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=F.%2BD%27Arco%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=D%27Arco%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"><a href="/search/author1%3AF.%2BD%2527Arco%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/0000-0001-7396-591X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for F. D'Arco</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">C.A. Alves </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Radiology Department (C.A.A.), Hospital Das Clinicas, Sao Paulo, Brazil</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=C.A.%2BAlves%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=Alves%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"><a href="/search/author1%3AC.A.%2BAlves%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/0000-0001-5877-9086" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for C.A. Alves</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">C. Raybaud </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>d</span>Department of Diagnostic Imaging (C.R.), Hospital for Sick Children, Toronto, Ontario, Canada</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=C.%2BRaybaud%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=Raybaud%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"><a href="/search/author1%3AC.%2BRaybaud%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/0000-0002-4819-9579" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for C. Raybaud</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">W.K.K. Chong </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Radiology (F.D'A., W.K.K.C.)</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=W.K.K.%2BChong%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=Chong%20W&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%3AW.K.K.%2BChong%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/0000-0002-4335-3864" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for W.K.K. Chong</a></li></ul></div><div class="author-tooltip-4"><div class="author-tooltip-name">G.E. Ishak </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>e</span>Department of Radiology (G.E.I.), Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington</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=G.E.%2BIshak%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=Ishak%20G&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%3AG.E.%2BIshak%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/0000-0002-4954-2420" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for G.E. Ishak</a></li></ul></div><div class="author-tooltip-5"><div class="author-tooltip-name">S. Ramji </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>f</span>Department of Radiology (S.R.), Imperial College Healthcare National Health Service Trust, London, UK</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=S.%2BRamji%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=Ramji%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"><a href="/search/author1%3AS.%2BRamji%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/0000-0003-3921-034X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for S. Ramji</a></li></ul></div><div class="author-tooltip-6"><div class="author-tooltip-name">M. Grima </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>g</span>Department of Radiology (M.G.), University Hospital of North Staffordshire National Health Service Trust, Stoke-on-Trent, UK</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.%2BGrima%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=Grima%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.%2BGrima%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/0000-0002-3472-992X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for M. Grima</a></li></ul></div><div class="author-tooltip-7"><div class="author-tooltip-name">A.J. Barkovich </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>h</span>Department of Radiology and Diagnostic Imaging (A.J.B.), University of California, San Francisco, San Francisco, California</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.J.%2BBarkovich%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=Barkovich%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.J.%2BBarkovich%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/0000-0003-4291-7346" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for A.J. 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Ganesan </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Neurology (V.G.), Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK</div><div class='author-affiliation'><span class='nlm-sup'>i</span>Neuroscience Unit (V.G.), UCL Great Ormond Street Institute of Child Health, London, UK.</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=V.%2BGanesan%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=Ganesan%20V&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%3AV.%2BGanesan%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/0000-0003-1864-6216" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for V. 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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 39</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 11 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Nov 2018 </div></div>
      
      
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      <div class="highwire-cite-title">Expanding the Distinctive Neuroimaging Phenotype of <em>ACTA2</em> Mutations</div>  
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-oa-ind highwire-cite-metadata"><i class="highwire-oa-indicator"></i> </span><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Nov 2018, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">39 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2126-2131; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A5823 </span></div>
  
  
  
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