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<meta name="DC.Title" content="MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms" />
<meta name="DC.Date" content="2006-04-01" />
<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: Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies.

METHODS: Twenty subjects (12 women and 8 men; age range, 29–70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically.

RESULTS: Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced.

CONCLUSIONS: Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. ( N Engl J Med 1984;311:948–53) were described. We propose naming the disease “adult-onset ADLD with autonomic symptoms.” The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis." />
<meta name="DC.Contributor" content="A. Melberg" />
<meta name="DC.Contributor" content="L. Hallberg" />
<meta name="DC.Contributor" content="H. Kalimo" />
<meta name="DC.Contributor" content="R. Raininko" />
<meta name="article:published_time" content="2006-04-01" />
<meta name="article:section" content="BRAIN" />
<meta name="citation_title" content="MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms" />
<meta name="citation_abstract" lang="en" content="&lt;p&gt;&lt;b&gt;BACKGROUND AND PURPOSE:&lt;/b&gt; Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS:&lt;/b&gt; Twenty subjects (12 women and 8 men; age range, 29–70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS:&lt;/b&gt; Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS:&lt;/b&gt; Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. (&lt;i&gt;N Engl J Med&lt;/i&gt; 1984;311:948–53) were described. We propose naming the disease “adult-onset ADLD with autonomic symptoms.” The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis.&lt;/p&gt;" />
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<meta name="twitter:title" content="MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies.

METHODS: Twenty subjects (12 women and 8 men; age range, 29–70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically.

RESULTS: Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced.

CONCLUSIONS: Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. ( N Engl J Med 1984;311:948–53) were described. We propose naming the disease “adult-onset ADLD with autonomic symptoms.” The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis." />
<meta name="og-title" property="og:title" content="MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms" />
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<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies.

METHODS: Twenty subjects (12 women and 8 men; age range, 29–70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically.

RESULTS: Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced.

CONCLUSIONS: Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. ( N Engl J Med 1984;311:948–53) were described. We propose naming the disease “adult-onset ADLD with autonomic symptoms.” The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis." />
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      <div class="highwire-cite-title">MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms</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">A.</span> <span class="nlm-surname">Melberg</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">L.</span> <span class="nlm-surname">Hallberg</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">H.</span> <span class="nlm-surname">Kalimo</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">R.</span> <span class="nlm-surname">Raininko</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">Apr 2006, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">27 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(4) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">904-911; </span></div>
  
  
  
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