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<meta name="keywords" content="C1868512, adld, adult-onset autosomal dominant demyelinating leukodystrophy, adult-onset autosomal dominant leukodystrophy, autosomal dominant adult-onset demyelinating leukodystrophy, autosomal dominant leukodystrophy with autonomic disease, autosomal-dominant or late-onset type pelizaeus-merzbacher disease, disease or syndrome, leukodystrophy, adult-onset, autosomal dominant, leukodystrophy, demyelinating, adult-onset, autosomal dominant, lmnb1, multiple sclerosis-like disorder, pelizaeus-merzbacher disease, autosomal dominant or late-onset type, pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly, pelizaeus-merzbacher disease, late-onset type, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Adult-onset autosomal dominant demyelinating leukodystrophy (Concept Id: C1868512)
- MedGen - NCBI</title>
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<!--
UID=356995
ConceptID=C1868512
-->
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK338165/bin/lad-ad-Image002.gif" src-large="/books/NBK338165/bin/lad-ad-Image002.jpg" /></a><br /><a href="/books/NBK338165/figure/lad-ad.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK338165/bin/lad-ad-Image001.gif" src-large="/books/NBK338165/bin/lad-ad-Image001.jpg" /></a><br /><a href="/books/NBK338165/figure/lad-ad.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Adult-onset autosomal dominant demyelinating leukodystrophy<span class="h1sub">(ADLD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356995</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1868512</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Autosomal Dominant Leukodystrophy with Autonomic Disease; Leukodystrophy, adult-onset, autosomal dominant; Multiple sclerosis-like disorder; PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE; Pelizaeus-Merzbacher disease, late-onset type</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="LMNB1 - ID: 4001 - NCBI Gene" href="/gene/4001" class="medgenPMinfo">LMNB1</a> (5q23.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008215" target="_blank">MONDO:0008215</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/169500" target="_blank">169500</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=99027">ORPHA99027</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK338165" target="_blank">LMNB1-Related Autosomal Dominant Leukodystrophy</a></div><div>LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Summary" target="NBK338165">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Diagnosis" target="NBK338165">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Clinical_Characteristics" target="NBK338165">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Genetically_Related_Allelic_Disor" target="NBK338165">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Differential_Diagnosis" target="NBK338165">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Management" target="NBK338165">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Genetic_Counseling" target="NBK338165">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Resources" target="NBK338165">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Molecular_Genetics" target="NBK338165">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.Chapter_Notes" target="NBK338165">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK338165#lad-ad.References" target="NBK338165">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Raili Raininko  |  Michael Gosky  |  Quasar S Padiath   <a href="/books/NBK338165" target="NBK338165" title="NCBI Bookshelf: LMNB1-Related Autosomal Dominant Leukodystrophy">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Typical autosomal dominant adult-onset demyelinating leukodystrophy (ADLDTY) is an autosomal dominant slowly progressive neurologic disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. ADLD differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis (summary by Padiath et al., 2006). Characteristic MRI findings include T2-weighted hyperintense changes in the upper corticospinal tract and cerebellar peduncles, with later development of confluent white matter changes in the frontoparietal area with relative sparing of the periventricular white matter (summary by Schuster et al., 2011).&#13;
Atypical ADLD (ADLDAT; 621061) is caused by heterozygous deletion on chromosome 5q23 involving regulatory regions upstream of the LMNB1 gene. Atypical ADLD is distinguished from typical ADLD by onset of pyramidal symptoms before autonomic symptoms and by lack of clinical and radiologic cerebellar involvement (Dimartino et al., 2024).  <a target="_blank" href="http://www.omim.org/entry/169500">http://www.omim.org/entry/169500</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates and protects nerve fibers and promotes the rapid transmission of nerve impulses.<br /><br />People with ADLD develop signs and symptoms of the condition in adulthood, typically in their forties or fifties. The first signs of the condition often involve problems with the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. These problems include difficulty with bowel and bladder function, a sharp drop in blood pressure upon standing (orthostatic hypotension), and erectile dysfunction in men. Rarely, people experience an inability to sweat (anhidrosis), which can lead to a dangerously high body temperature.<br /><br />In ADLD, movement difficulties often develop after the autonomic nervous system problems. Affected individuals can have muscle stiffness (spasticity) or weakness and involuntary rhythmic shaking, called intention tremor because it worsens during movement. People with ADLD often have difficulty coordinating movements (ataxia), including movements that involve judging distance or scale (dysmetria), such as picking up a distant object, and rapidly alternating movements (dysdiadochokinesis), including hand clapping or foot stomping. These movement problems usually first affect the legs, but as the condition worsens, the arms and eventually the face become involved. In some people with ADLD, the symptoms worsen during episodes of fever, infection, or exposure to heat. Due to difficulty walking and an unsteady gait, many affected individuals need a cane, walker, or wheelchair for assistance.<br /><br />Intelligence is usually unaffected; however, people who have had ADLD for a long time may have a decline in intellectual function (dementia). ADLD worsens slowly, and affected individuals usually survive 10 to 20 years after the onset of symptoms.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease">https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_41977"><div><strong>Bowel incontinence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41977</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0015732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Involuntary fecal soiling in adults and children who have usually already been toilet trained.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41977">Feature record</a> | <a href="/medgen?term=%22Bowel%20incontinence%22%5BClinical%20Features%5D%20OR%2041977%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_358232"><div><strong>Autonomic erectile dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1868524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358232">Feature record</a> | <a href="/medgen?term=%22Autonomic%20erectile%20dysfunction%22%5BClinical%20Features%5D%20OR%20358232%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1720680"><div><strong>Impotence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN208474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Inability to develop or maintain an erection of the penis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1720680">Feature record</a> | <a href="/medgen?term=%22Impotence%22%5BClinical%20Features%5D%20OR%201720680%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6070"><div><strong>Leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6070">Feature record</a> | <a href="/medgen?term=%22Leukodystrophy%22%5BClinical%20Features%5D%20OR%206070%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10989"><div><strong>Pseudobulbar paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0033790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10989">Feature record</a> | <a href="/medgen?term=%22Pseudobulbar%20paralysis%22%5BClinical%20Features%5D%20OR%2010989%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66817"><div><strong>Personality changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0240735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal shift in patterns of thinking, acting, or feeling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66817">Feature record</a> | <a href="/medgen?term=%22Personality%20changes%22%5BClinical%20Features%5D%20OR%2066817%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96560"><div><strong>Corpus callosum atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96560</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of atrophy (wasting) of the corpus callosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96560">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%20atrophy%22%5BClinical%20Features%5D%20OR%2096560%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381506"><div><strong>Progressive neurologic deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381506</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381506">Feature record</a> | <a href="/medgen?term=%22Progressive%20neurologic%20deterioration%22%5BClinical%20Features%5D%20OR%20381506%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_400925"><div><strong>Abnormal cerebellum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any structural abnormality of the cerebellum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400925">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebellum%20morphology%22%5BClinical%20Features%5D%20OR%20400925%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_358229"><div><strong>Diffuse leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1868514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358229">Feature record</a> | <a href="/medgen?term=%22Diffuse%20leukoencephalopathy%22%5BClinical%20Features%5D%20OR%20358229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_358344"><div><strong>Orthostatic hypotension due to autonomic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358344</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1868528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358344">Feature record</a> | <a href="/medgen?term=%22Orthostatic%20hypotension%20due%20to%20autonomic%20dysfunction%22%5BClinical%20Features%5D%20OR%20358344%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870468"><div><strong>Symmetric peripheral demyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870468</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4024914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870468">Feature record</a> | <a href="/medgen?term=%22Symmetric%20peripheral%20demyelination%22%5BClinical%20Features%5D%20OR%20870468%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870755"><div><strong>Autonomic bladder dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870755</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4025212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870755">Feature record</a> | <a href="/medgen?term=%22Autonomic%20bladder%20dysfunction%22%5BClinical%20Features%5D%20OR%20870755%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_358343"><div><strong>Decreased sweating due to autonomic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358343</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1868527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358343">Feature record</a> | <a href="/medgen?term=%22Decreased%20sweating%20due%20to%20autonomic%20dysfunction%22%5BClinical%20Features%5D%20OR%20358343%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autonomic erectile dysfunction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1720680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impotence</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased sweating due to autonomic dysfunction</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebellum morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autonomic bladder dysfunction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse leukoencephalopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orthostatic hypotension due to autonomic dysfunction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Personality changes</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive neurologic deterioration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudobulbar paralysis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Symmetric peripheral demyelination</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bowel incontinence</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868512[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=356995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356995" target="_blank" href="/omim/169500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK338165/" ref="ncbi_uid=356995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=356995" ref="ncbi_uid=356995">V</a></span></span><span class="TLline">Adult-onset autosomal dominant demyelinating leukodystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="matched_ds">Adult-onset autosomal dominant demyelinating leukodystrophy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/31143934">Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giorgio E,
Lorenzati M,
Rivetti di Val Cervo P,
Brussino A,
Cernigoj M,
Della Sala E,
Bartoletti Stella A,
Ferrero M,
Caiazzo M,
Capellari S,
Cortelli P,
Conti L,
Cattaneo E,
Buffo A,
Brusco A</span><br />
<span class="medgenPMjournal">Brain</span>
2019 Jul 1;142(7):1905-1920.
doi: 10.1093/brain/awz139.
<span class="bold">PMID: </span><a href="/pubmed/31143934" target="_blank">31143934</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/36804850">Type I Alexander disease: Update and validation of the clinical evolution-based classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaia Y,
Mura E,
Tonduti D</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107540.
Epub 2023 Feb 10
doi: 10.1016/j.ymgme.2023.107540.
<span class="bold">PMID: </span><a href="/pubmed/36804850" target="_blank">36804850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29544907">Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sassi C,
Nalls MA,
Ridge PG,
Gibbs JR,
Lupton MK,
Troakes C,
Lunnon K,
Al-Sarraj S,
Brown KS,
Medway C,
Lord J,
Turton J,
Bras J;
ARUK Consortium,
Blumenau S,
Thielke M,
Josties C,
Freyer D,
Dietrich A,
Hammer M,
Baier M,
Dirnagl U,
Morgan K,
Powell JF,
Kauwe JS,
Cruchaga C,
Goate AM,
Singleton AB,
Guerreiro R,
Hodges A,
Hardy J</span><br />
<span class="medgenPMjournal">Neurobiol Aging</span>
2018 Jun;66:179.e17-179.e29.
Epub 2018 Feb 2
doi: 10.1016/j.neurobiolaging.2018.01.015.
<span class="bold">PMID: </span><a href="/pubmed/29544907" target="_blank">29544907</a><a href="/pmc/articles/PMC5937905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29302065">Adulthood leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Köhler W,
Curiel J,
Vanderver A</span><br />
<span class="medgenPMjournal">Nat Rev Neurol</span>
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
<span class="bold">PMID: </span><a href="/pubmed/29302065" target="_blank">29302065</a><a href="/pmc/articles/PMC11348681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27854160">Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Padiath QS</span><br />
<span class="medgenPMjournal">Nucleus</span>
2016 Nov;7(6):547-553.
doi: 10.1080/19491034.2016.1260799.
<span class="bold">PMID: </span><a href="/pubmed/27854160" target="_blank">27854160</a><a href="/pmc/articles/PMC5214339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26053668">LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finnsson J,
Sundblom J,
Dahl N,
Melberg A,
Raininko R</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2015 Sep;78(3):412-25.
Epub 2015 Jul 27
doi: 10.1002/ana.24452.
<span class="bold">PMID: </span><a href="/pubmed/26053668" target="_blank">26053668</a><a href="/pmc/articles/PMC5054845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39078102">Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dimartino P,
Zadorozhna M,
Yumiceba V,
Basile A,
Cani I,
Melo US,
Henck J,
Breur M,
Tonon C,
Lodi R,
Brusco A,
Pippucci T,
Koufi FD,
Boschetti E,
Ramazzotti G,
Manzoli L,
Ratti S,
Pinto E Vairo F,
Delatycki MB,
Vaula G,
Cortelli P,
Bugiani M,
Spielmann M,
Giorgio E</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Nov;96(5):855-870.
Epub 2024 Jul 30
doi: 10.1002/ana.27038.
<span class="bold">PMID: </span><a href="/pubmed/39078102" target="_blank">39078102</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35419641">Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen S,
Zou JL,
He S,
Li W,
Zhang JW,
Li SJ</span><br />
<span class="medgenPMjournal">Neurol Sci</span>
2022 Aug;43(8):1-9.
Epub 2022 Apr 14
doi: 10.1007/s10072-022-06057-0.
<span class="bold">PMID: </span><a href="/pubmed/35419641" target="_blank">35419641</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29302065">Adulthood leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Köhler W,
Curiel J,
Vanderver A</span><br />
<span class="medgenPMjournal">Nat Rev Neurol</span>
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
<span class="bold">PMID: </span><a href="/pubmed/29302065" target="_blank">29302065</a><a href="/pmc/articles/PMC11348681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25224534">Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brunetti V,
Ferilli MA,
Nociti V,
Silvestri G</span><br />
<span class="medgenPMjournal">Neurology</span>
2014 Sep 16;83(12):e121.
doi: 10.1212/WNL.0000000000000803.
<span class="bold">PMID: </span><a href="/pubmed/25224534" target="_blank">25224534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23243074">Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flanagan EP,
Gavrilova RH,
Boeve BF,
Kumar N,
Jelsing EJ,
Silber MH</span><br />
<span class="medgenPMjournal">Neurology</span>
2013 Jan 1;80(1):118-20.
Epub 2012 Dec 12
doi: 10.1212/WNL.0b013e31827b1b2a.
<span class="bold">PMID: </span><a href="/pubmed/23243074" target="_blank">23243074</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34685544">Lamin B1 Accumulation's Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ratti S,
Rusciano I,
Mongiorgi S,
Neri I,
Cappellini A,
Cortelli P,
Suh PG,
McCubrey JA,
Manzoli L,
Cocco L,
Ramazzotti G</span><br />
<span class="medgenPMjournal">Cells</span>
2021 Sep 28;10(10)
doi: 10.3390/cells10102566.
<span class="bold">PMID: </span><a href="/pubmed/34685544" target="_blank">34685544</a><a href="/pmc/articles/PMC8534128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31143934">Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giorgio E,
Lorenzati M,
Rivetti di Val Cervo P,
Brussino A,
Cernigoj M,
Della Sala E,
Bartoletti Stella A,
Ferrero M,
Caiazzo M,
Capellari S,
Cortelli P,
Conti L,
Cattaneo E,
Buffo A,
Brusco A</span><br />
<span class="medgenPMjournal">Brain</span>
2019 Jul 1;142(7):1905-1920.
doi: 10.1093/brain/awz139.
<span class="bold">PMID: </span><a href="/pubmed/31143934" target="_blank">31143934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22776853">Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jaklin C,
Heiliger K,
Hempel M,
Sollacher D,
Cohen M,
Makowski CC,
Meitinger T,
Jauch A,
Oexle K</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2012 Oct;55(10):568-72.
Epub 2012 Jul 7
doi: 10.1016/j.ejmg.2012.06.010.
<span class="bold">PMID: </span><a href="/pubmed/22776853" target="_blank">22776853</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18287567">Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keegan BM,
Giannini C,
Parisi JE,
Lucchinetti CF,
Boeve BF,
Josephs KA</span><br />
<span class="medgenPMjournal">Neurology</span>
2008 Mar 25;70(13 Pt 2):1128-33.
Epub 2008 Feb 20
doi: 10.1212/01.wnl.0000304045.99153.8f.
<span class="bold">PMID: </span><a href="/pubmed/18287567" target="_blank">18287567</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36804850">Type I Alexander disease: Update and validation of the clinical evolution-based classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaia Y,
Mura E,
Tonduti D</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107540.
Epub 2023 Feb 10
doi: 10.1016/j.ymgme.2023.107540.
<span class="bold">PMID: </span><a href="/pubmed/36804850" target="_blank">36804850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29302065">Adulthood leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Köhler W,
Curiel J,
Vanderver A</span><br />
<span class="medgenPMjournal">Nat Rev Neurol</span>
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
<span class="bold">PMID: </span><a href="/pubmed/29302065" target="_blank">29302065</a><a href="/pmc/articles/PMC11348681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26053668">LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finnsson J,
Sundblom J,
Dahl N,
Melberg A,
Raininko R</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2015 Sep;78(3):412-25.
Epub 2015 Jul 27
doi: 10.1002/ana.24452.
<span class="bold">PMID: </span><a href="/pubmed/26053668" target="_blank">26053668</a><a href="/pmc/articles/PMC5054845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22007734">Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Saez E,
Shah S,
Costa C,
Fleminger S,
Connor S,
Bodi I</span><br />
<span class="medgenPMjournal">Neuropathology</span>
2012 Jun;32(3):285-92.
Epub 2011 Oct 18
doi: 10.1111/j.1440-1789.2011.01257.x.
<span class="bold">PMID: </span><a href="/pubmed/22007734" target="_blank">22007734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9225322">MRI and CT in an autosomal-dominant, adult-onset leukodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergui M,
Bradac GB,
Leombruni S,
Vaula G,
Quattrocolo G</span><br />
<span class="medgenPMjournal">Neuroradiology</span>
1997 Jun;39(6):423-6.
doi: 10.1007/s002340050437.
<span class="bold">PMID: </span><a href="/pubmed/9225322" target="_blank">9225322</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/25701871">A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giorgio E,
Robyr D,
Spielmann M,
Ferrero E,
Di Gregorio E,
Imperiale D,
Vaula G,
Stamoulis G,
Santoni F,
Atzori C,
Gasparini L,
Ferrera D,
Canale C,
Guipponi M,
Pennacchio LA,
Antonarakis SE,
Brussino A,
Brusco A</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2015 Jun 1;24(11):3143-54.
Epub 2015 Feb 20
doi: 10.1093/hmg/ddv065.
<span class="bold">PMID: </span><a href="/pubmed/25701871" target="_blank">25701871</a><a href="/pmc/articles/PMC4424952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24128683">Adult-onset leukodystrophy: review of 3 clinicopathologic phenotypes and a proposed classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alturkustani M,
Sharma M,
Hammond R,
Ang LC</span><br />
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
2013 Nov;72(11):1090-103.
doi: 10.1097/NEN.0000000000000008.
<span class="bold">PMID: </span><a href="/pubmed/24128683" target="_blank">24128683</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23873483">The contrasting roles of lamin B1 in cellular aging and human disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dreesen O,
Ong PF,
Chojnowski A,
Colman A</span><br />
<span class="medgenPMjournal">Nucleus</span>
2013 Jul-Aug;4(4):283-90.
Epub 2013 Jul 18
doi: 10.4161/nucl.25808.
<span class="bold">PMID: </span><a href="/pubmed/23873483" target="_blank">23873483</a><a href="/pmc/articles/PMC3810336" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19961535">A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brussino A,
Vaula G,
Cagnoli C,
Panza E,
Seri M,
Di Gregorio E,
Scappaticci S,
Camanini S,
Daniele D,
Bradac GB,
Pinessi L,
Cavalieri S,
Grosso E,
Migone N,
Brusco A</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2010 Apr;17(4):541-9.
Epub 2009 Dec 4
doi: 10.1111/j.1468-1331.2009.02844.x.
<span class="bold">PMID: </span><a href="/pubmed/19961535" target="_blank">19961535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10749986">Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Coffeen CM,
McKenna CE,
Koeppen AH,
Plaster NM,
Maragakis N,
Mihalopoulos J,
Schwankhaus JD,
Flanigan KM,
Gregg RG,
Ptácek LJ,
Fu YH</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2000 Mar 22;9(5):787-93.
doi: 10.1093/hmg/9.5.787.
<span class="bold">PMID: </span><a href="/pubmed/10749986" target="_blank">10749986</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div></div>
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<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/29122458">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adams SJ,
Kirk A,
Auer RN</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2018 Feb;48:42-49.
Epub 2017 Nov 6
doi: 10.1016/j.jocn.2017.10.060.
<span class="bold">PMID: </span><a href="/pubmed/29122458" target="_blank">29122458</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1868512%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
<li><a href="/gtr/tests?term=C1868512%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
<li><a href="/gtr/tests?term=C1868512%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1868512%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=169500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99027" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=150340" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4001[geneid]" target="_blank">View LMNB1 variations in ClinVar</a></li><li><a href="/nuccore/311771700" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=169500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pelizaeus-Merzbacher+disease%2C+late-onset+type/5644" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/leukodystrophy_demyelinating_adult_onset_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10587/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/26749591" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Adult-onset%20autosomal%20dominant%20demyelinating%20leukodystrophy" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=356995" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1868512[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=356995" ref="log$=recordlinks">PubMed (GeneReviews)</a>
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=356995" ref="log$=recordlinks">PubMed (OMIM)</a>
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