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<meta name="DC.Title" content="White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations" />
<meta name="DC.Identifier" content="10.3174/ajnr.A1792" />
<meta name="DC.Date" content="2010-02-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
<meta name="DC.Rights" content="Copyright © American Society of Neuroradiology. 
Indicates open access to non-subscribers at www.ajnr.org" />
<meta name="DC.AccessRights" content="open-access" />
<meta name="DC.Description" content="BACKGROUND AND PURPOSE: RTT, caused by mutations in the methyl CPG binding protein 2 ( MeCP2 ) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT.

MATERIALS AND METHODS: Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract–specific abnormalities in patients with RTT.

RESULTS: In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) ( P = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words ( P &lt; .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified.

CONCLUSIONS: DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation.

AIR
:   automated image registration
ALIC
:   anterior limb of internal capsule
CC
:   corpus callosum
CG1, CG3, CG4
:   cingulate gyrus
CG2
:   cingulum
CP
:   cerebral peduncle
CPG
:   cytosine guanosine dinucleotide
DTI
:   diffusion tensor imaging
EC
:   external capsule
FA
:   fractional anisotropy
FW
:   frontal white matter
FX/ST
:   fornix/stria terminalis
GC
:   genu of corpus callosum
ICBM
:   International Consortium of Brain Mapping
IFO
:   inferior fronto-occipital fasciculus
LI
:   laterality index
MCP
:   middle cerebellar peduncle
PCR
:   posterior corona radiata
PLIC
:   posterior limb of internal capsule
PTR
:   posterior thalamic radiation
ROI
:   region of interest
RTT
:   Rett syndrome
SCC
:   splenium of corpus callosum
SCP
:   superior cerebellar peduncle
SLF
:   superior longitudinal fasciculus
SS
:   sagittal stratum." />
<meta name="DC.Contributor" content="A. Mahmood" />
<meta name="DC.Contributor" content="G. Bibat" />
<meta name="DC.Contributor" content="A.-L. Zhan" />
<meta name="DC.Contributor" content="I. Izbudak" />
<meta name="DC.Contributor" content="L. Farage" />
<meta name="DC.Contributor" content="A. Horska" />
<meta name="DC.Contributor" content="S. Mori" />
<meta name="DC.Contributor" content="S. Naidu" />
<meta name="article:published_time" content="2010-02-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;RTT, caused by mutations in the methyl CPG binding protein 2 (&lt;i&gt;MeCP2&lt;/i&gt;) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract–specific abnormalities in patients with RTT.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) (&lt;i&gt;P&lt;/i&gt; = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words (&lt;i&gt;P&lt;/i&gt; &amp;lt; .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of &lt;i&gt;MeCP2&lt;/i&gt; gene mutation and X-inactivation.&lt;/p&gt;" />
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<meta name="twitter:title" content="White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: RTT, caused by mutations in the methyl CPG binding protein 2 ( MeCP2 ) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT.

MATERIALS AND METHODS: Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract–specific abnormalities in patients with RTT.

RESULTS: In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) ( P = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words ( P &lt; .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified.

CONCLUSIONS: DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation.

AIR
:   automated image registration
ALIC
:   anterior limb of internal capsule
CC
:   corpus callosum
CG1, CG3, CG4
:   cingulate gyrus
CG2
:   cingulum
CP
:   cerebral peduncle
CPG
:   cytosine guanosine dinucleotide
DTI
:   diffusion tensor imaging
EC
:   external capsule
FA
:   fractional anisotropy
FW
:   frontal white matter
FX/ST
:   fornix/stria terminalis
GC
:   genu of corpus callosum
ICBM
:   International Consortium of Brain Mapping
IFO
:   inferior fronto-occipital fasciculus
LI
:   laterality index
MCP
:   middle cerebellar peduncle
PCR
:   posterior corona radiata
PLIC
:   posterior limb of internal capsule
PTR
:   posterior thalamic radiation
ROI
:   region of interest
RTT
:   Rett syndrome
SCC
:   splenium of corpus callosum
SCP
:   superior cerebellar peduncle
SLF
:   superior longitudinal fasciculus
SS
:   sagittal stratum." />
<meta name="og-title" property="og:title" content="White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/31/2/295" />
<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: RTT, caused by mutations in the methyl CPG binding protein 2 ( MeCP2 ) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT.

MATERIALS AND METHODS: Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract–specific abnormalities in patients with RTT.

RESULTS: In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) ( P = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words ( P &lt; .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified.

CONCLUSIONS: DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation.

AIR
:   automated image registration
ALIC
:   anterior limb of internal capsule
CC
:   corpus callosum
CG1, CG3, CG4
:   cingulate gyrus
CG2
:   cingulum
CP
:   cerebral peduncle
CPG
:   cytosine guanosine dinucleotide
DTI
:   diffusion tensor imaging
EC
:   external capsule
FA
:   fractional anisotropy
FW
:   frontal white matter
FX/ST
:   fornix/stria terminalis
GC
:   genu of corpus callosum
ICBM
:   International Consortium of Brain Mapping
IFO
:   inferior fronto-occipital fasciculus
LI
:   laterality index
MCP
:   middle cerebellar peduncle
PCR
:   posterior corona radiata
PLIC
:   posterior limb of internal capsule
PTR
:   posterior thalamic radiation
ROI
:   region of interest
RTT
:   Rett syndrome
SCC
:   splenium of corpus callosum
SCP
:   superior cerebellar peduncle
SLF
:   superior longitudinal fasciculus
SS
:   sagittal stratum." />
<meta name="og-type" property="og:type" content="article" />
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      <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">White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">A. Mahmood</span>, <span class="highwire-citation-author" data-delta="1">G. Bibat</span>, <span class="highwire-citation-author" data-delta="2">A.-L. Zhan</span>, <span class="highwire-citation-author" data-delta="3">I. Izbudak</span>, <span class="highwire-citation-author" data-delta="4">L. Farage</span>, <span class="highwire-citation-author" data-delta="5">A. Horska</span>, <span class="highwire-citation-author" data-delta="6">S. Mori</span> and <span class="highwire-citation-author" data-delta="7">S. Naidu</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">February 2010,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">31 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(2) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">295-299; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A1792 </span></div>
  
  
  
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<p id="p-2"><strong>BACKGROUND AND PURPOSE:</strong> RTT, caused by mutations in the methyl CPG binding protein 2 (<em>MeCP2</em>) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT.</p>
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<p id="p-3"><strong>MATERIALS AND METHODS:</strong> Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract–specific abnormalities in patients with RTT.</p>
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<p id="p-4"><strong>RESULTS:</strong> In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) (<em>P</em> = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words (<em>P</em> &lt; .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified.</p>
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<p id="p-5"><strong>CONCLUSIONS:</strong> DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of <em>MeCP2</em> gene mutation and X-inactivation.</p>
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</div><div class="section glossary" id="glossary-1"><h2>Abbreviations</h2><dl id="def-list-1"><dt id="def-item-1">AIR<span class="def-item-dt-sep"></span></dt><dd>automated image registration<span class="def-item-dd-sep"></span></dd><dt id="def-item-2">ALIC<span class="def-item-dt-sep"></span></dt><dd>anterior limb of internal capsule<span class="def-item-dd-sep"></span></dd><dt id="def-item-3">CC<span class="def-item-dt-sep"></span></dt><dd>corpus callosum<span class="def-item-dd-sep"></span></dd><dt id="def-item-4">CG1, CG3, CG4<span class="def-item-dt-sep"></span></dt><dd>cingulate gyrus<span class="def-item-dd-sep"></span></dd><dt id="def-item-5">CG2<span class="def-item-dt-sep"></span></dt><dd>cingulum<span class="def-item-dd-sep"></span></dd><dt id="def-item-6">CP<span class="def-item-dt-sep"></span></dt><dd>cerebral peduncle<span class="def-item-dd-sep"></span></dd><dt id="def-item-7">CPG<span class="def-item-dt-sep"></span></dt><dd>cytosine guanosine dinucleotide<span class="def-item-dd-sep"></span></dd><dt id="def-item-8">DTI<span class="def-item-dt-sep"></span></dt><dd>diffusion tensor imaging<span class="def-item-dd-sep"></span></dd><dt id="def-item-9">EC<span class="def-item-dt-sep"></span></dt><dd>external capsule<span class="def-item-dd-sep"></span></dd><dt id="def-item-10">FA<span class="def-item-dt-sep"></span></dt><dd>fractional anisotropy<span class="def-item-dd-sep"></span></dd><dt id="def-item-11">FW<span class="def-item-dt-sep"></span></dt><dd>frontal white matter<span class="def-item-dd-sep"></span></dd><dt id="def-item-12">FX/ST<span class="def-item-dt-sep"></span></dt><dd>fornix/stria terminalis<span class="def-item-dd-sep"></span></dd><dt id="def-item-13">GC<span class="def-item-dt-sep"></span></dt><dd>genu of corpus callosum<span class="def-item-dd-sep"></span></dd><dt id="def-item-14">ICBM<span class="def-item-dt-sep"></span></dt><dd>International Consortium of Brain Mapping<span class="def-item-dd-sep"></span></dd><dt id="def-item-15">IFO<span class="def-item-dt-sep"></span></dt><dd>inferior fronto-occipital fasciculus<span class="def-item-dd-sep"></span></dd><dt id="def-item-16">LI<span class="def-item-dt-sep"></span></dt><dd>laterality index<span class="def-item-dd-sep"></span></dd><dt id="def-item-17">MCP<span class="def-item-dt-sep"></span></dt><dd>middle cerebellar peduncle<span class="def-item-dd-sep"></span></dd><dt id="def-item-18">PCR<span class="def-item-dt-sep"></span></dt><dd>posterior corona radiata<span class="def-item-dd-sep"></span></dd><dt id="def-item-19">PLIC<span class="def-item-dt-sep"></span></dt><dd>posterior limb of internal capsule<span class="def-item-dd-sep"></span></dd><dt id="def-item-20">PTR<span class="def-item-dt-sep"></span></dt><dd>posterior thalamic radiation<span class="def-item-dd-sep"></span></dd><dt id="def-item-21">ROI<span class="def-item-dt-sep"></span></dt><dd>region of interest<span class="def-item-dd-sep"></span></dd><dt id="def-item-22">RTT<span class="def-item-dt-sep"></span></dt><dd>Rett syndrome<span class="def-item-dd-sep"></span></dd><dt id="def-item-23">SCC<span class="def-item-dt-sep"></span></dt><dd>splenium of corpus callosum<span class="def-item-dd-sep"></span></dd><dt id="def-item-24">SCP<span class="def-item-dt-sep"></span></dt><dd>superior cerebellar peduncle<span class="def-item-dd-sep"></span></dd><dt id="def-item-25">SLF<span class="def-item-dt-sep"></span></dt><dd>superior longitudinal fasciculus<span class="def-item-dd-sep"></span></dd><dt id="def-item-26">SS<span class="def-item-dt-sep"></span></dt><dd>sagittal stratum.</dd></dl></div><ul class="copyright-statement"><li class="fn" id="copyright-statement-1">Copyright © American Society of Neuroradiology</li></ul><div class="license" id="license-1"><p id="p-1">Indicates open access to non-subscribers at <a href="http://www.ajnr.org">www.ajnr.org</a></p></div><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div><a href="http://ajnr-stage2.stage.highwire.org/content/31/2/295.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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