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<meta name="keywords" content="C5779972, cach, childhood ataxia with central nervous system hypomyelinization, cree leukoencephalopathy, disease or syndrome, eif2b1, leukoencephalopathy with vanishing white matter 1, vanishing white matter leukodystrophy, vwm1, 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="Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset =18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=1830482
|
||
ConceptID=C5779972
|
||
-->
|
||
<!--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/NBK1258/bin/cach-Image002.gif" src-large="/books/NBK1258/bin/cach-Image002.jpg" /></a><br /><a href="/books/NBK1258/figure/cach.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1258/bin/cach-Image001.gif" src-large="/books/NBK1258/bin/cach-Image001.jpg" /></a><br /><a href="/books/NBK1258/figure/cach.Fa/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Leukoencephalopathy with vanishing white matter 1<span class="h1sub">(VWM1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830482</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) Click for more information.">C5779972</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>CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; Cree leukoencephalopathy; Vanishing white matter leukodystrophy; VWM1</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="EIF2B1 - ID: 1967 - NCBI Gene" href="/gene/1967" class="medgenPMinfo">EIF2B1</a> (12q24.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020507" target="_blank">MONDO:0020507</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/603896" target="_blank">603896</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&Expert=99854">ORPHA99854</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/NBK1258" target="_blank">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a></div><div>Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset ≥18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright. [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/NBK1258#cach.Summary" target="NBK1258">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Diagnosis" target="NBK1258">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Clinical_Characteristics" target="NBK1258">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Genetically_Related_Allelic_Disorde" target="NBK1258">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Differential_Diagnosis" target="NBK1258">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Management" target="NBK1258">Management</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Genetic_Counseling" target="NBK1258">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Resources" target="NBK1258">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Molecular_Genetics" target="NBK1258">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.References" target="NBK1258">References</a> | <a class="medgenPMinfo" href="/books/NBK1258#cach.Chapter_Notes" target="NBK1258">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Marjo S van der Knaap | Anne Fogli | Odile Boespflug-Tanguy<i>, et. al.</i> <a href="/books/NBK1258" target="NBK1258" title="NCBI Bookshelf: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter">view full author information</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_9963"><div><strong>Premature ovarian insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9963</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) Click for more information.">C0025322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9963">Feature record</a> | <a href="/medgen?term=%22Premature%20ovarian%20insufficiency%22%5BClinical%20Features%5D%20OR%209963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115918"><div><strong>Primary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115918</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) Click for more information.">C0232939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally late or absent menarche in a female with normal secondary sexual characteristics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115918">Feature record</a> | <a href="/medgen?term=%22Primary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115919"><div><strong>Secondary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115919</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) Click for more information.">C0232940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115919">Feature record</a> | <a href="/medgen?term=%22Secondary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3715"><div><strong>Delusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3715</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) Click for more information.">C0011253</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3715">Feature record</a> | <a href="/medgen?term=%22Delusion%22%5BClinical%20Features%5D%20OR%203715%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%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) 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_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</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) Click for more information.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%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) 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_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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) Click for more information.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68544"><div><strong>Unsteady gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68544</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) Click for more information.">C0231686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A shaky or wobbly manner of walking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68544">Feature record</a> | <a href="/medgen?term=%22Unsteady%20gait%22%5BClinical%20Features%5D%20OR%2068544%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68579"><div><strong>Memory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68579</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) Click for more information.">C0233794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68579">Feature record</a> | <a href="/medgen?term=%22Memory%20impairment%22%5BClinical%20Features%5D%20OR%2068579%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) 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_78722"><div><strong>Leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78722</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) Click for more information.">C0270612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78722">Feature record</a> | <a href="/medgen?term=%22Leukoencephalopathy%22%5BClinical%20Features%5D%20OR%2078722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137898"><div><strong>CNS demyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137898</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) Click for more information.">C0338474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of myelin from nerve fibers in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137898">Feature record</a> | <a href="/medgen?term=%22CNS%20demyelination%22%5BClinical%20Features%5D%20OR%20137898%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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) Click for more information.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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) Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383084"><div><strong>Cerebral hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383084</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) Click for more information.">C2677328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383084">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hypomyelination%22%5BClinical%20Features%5D%20OR%20383084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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) Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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) Click for more information.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870859"><div><strong>Cessation of head growth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870859</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) Click for more information.">C4025319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stagnation of head growth seen as flattening of the head circumference curve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870859">Feature record</a> | <a href="/medgen?term=%22Cessation%20of%20head%20growth%22%5BClinical%20Features%5D%20OR%20870859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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) Click for more information.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347772"><div><strong>Decreased circulating progesterone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347772</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) Click for more information.">C1858995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An reduced concentration of progesterone in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347772">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20progesterone%22%5BClinical%20Features%5D%20OR%20347772%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349078"><div><strong>Primary gonadal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349078</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) Click for more information.">C1859014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349078">Feature record</a> | <a href="/medgen?term=%22Primary%20gonadal%20insufficiency%22%5BClinical%20Features%5D%20OR%20349078%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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) Click for more information.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99138"><div><strong>Blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99138</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) Click for more information.">C0456909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99138">Feature record</a> | <a href="/medgen?term=%22Blindness%22%5BClinical%20Features%5D%20OR%2099138%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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating progesterone</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary gonadal insufficiency</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_99138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</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_9963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary amenorrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary amenorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cessation of head growth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</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_383084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS demyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</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_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Memory impairment</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_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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_68544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unsteady gait</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858991[DISCUI]&test_type=Clinical" ref="ncbi_uid=347037">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1858991[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=347037">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=347037">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347037" ref="ncbi_uid=347037">V</a></span></span><span class="TLline"><a href="/medgen/347037" ref="tree=GTR&ncbi_uid=347037&link_uid=347037" title="View MedGen record for 'Vanishing white matter disease'">Vanishing white matter disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842419" ref="tree=GTR&ncbi_uid=1842419&link_uid=1842419" title="View MedGen record for 'Congenital or early infantile CACH syndrome'">Congenital or early infantile CACH syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826173" ref="tree=GTR&ncbi_uid=1826173&link_uid=1826173" title="View MedGen record for 'Juvenile or adult CACH syndrome'">Juvenile or adult CACH syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826172" ref="tree=GTR&ncbi_uid=1826172&link_uid=1826172" title="View MedGen record for 'Late infantile CACH syndrome'">Late infantile CACH syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779972[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830482">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830482" target="_blank" href="/omim/603896">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1830482">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830482" ref="ncbi_uid=1830482">V</a></span></span><span class="TLline">Leukoencephalopathy with vanishing white matter 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841040" target="_blank" href="/omim/606454">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841040">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841040" ref="ncbi_uid=1841040">V</a></span></span><span class="TLline"><a href="/medgen/1841040" ref="tree=GTR&ncbi_uid=1841040&link_uid=1841040" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 2'">Leukoencephalopathy with vanishing white matter 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841041" target="_blank" href="/omim/606273">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841041">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841041" ref="ncbi_uid=1841041">V</a></span></span><span class="TLline"><a href="/medgen/1841041" ref="tree=GTR&ncbi_uid=1841041&link_uid=1841041" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 3'">Leukoencephalopathy with vanishing white matter 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830406[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1841042">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841042" target="_blank" href="/omim/606687">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841042">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841042" ref="ncbi_uid=1841042">V</a></span></span><span class="TLline"><a href="/medgen/1841042" ref="tree=GTR&ncbi_uid=1841042&link_uid=1841042" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 4'">Leukoencephalopathy with vanishing white matter 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830483" target="_blank" href="/omim/603945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1830483">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830483" ref="ncbi_uid=1830483">V</a></span></span><span class="TLline"><a href="/medgen/1830483" ref="tree=GTR&ncbi_uid=1830483&link_uid=1830483" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 5'">Leukoencephalopathy with vanishing white matter 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847967[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=341114">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341114" ref="ncbi_uid=341114">V</a></span></span><span class="TLline"><a href="/medgen/341114" ref="tree=GTR&ncbi_uid=341114&link_uid=341114" title="View MedGen record for 'Ovarioleukodystrophy'">Ovarioleukodystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014588[DISCUI]&test_type=Clinical" ref="ncbi_uid=863025">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863025" target="_blank" href="/omim/612035">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK608563/" ref="ncbi_uid=863025">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863025" ref="ncbi_uid=863025">V</a></span></span><span class="TLline"><a href="/medgen/863025" ref="tree=GTR&ncbi_uid=863025&link_uid=863025" title="View MedGen record for 'Leukoencephalopathy, progressive, with ovarian failure'">Leukoencephalopathy, progressive, with ovarian failure</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/347037" ref="tree=MeSH" title="MedGen record for Vanishing white matter disease">Vanishing white matter disease</a></span><ul><li><span class="matched_ds">Leukoencephalopathy with vanishing white matter 1</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/35046115">Posterior reversible encephalopathy syndrome (PRES): diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Triplett JD,
|
||
Kutlubaev MA,
|
||
Kermode AG,
|
||
Hardy T</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2022 Jun;22(3):183-189.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1136/practneurol-2021-003194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35046115" target="_blank">35046115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34405435">Advances in Treatment of Progressive Multifocal Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernard-Valnet R,
|
||
Koralnik IJ,
|
||
Du Pasquier R</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2021 Dec;90(6):865-873.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1002/ana.26198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34405435" target="_blank">34405435</a><a href="/pmc/articles/PMC9291129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830467">Assessment and Management of Acute Disseminated Encephalomyelitis (ADEM) in the Pediatric Patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang CX</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2021 May;23(3):213-221.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1007/s40272-021-00441-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830467" target="_blank">33830467</a><a href="/pmc/articles/PMC8026386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(leukoencephalopathy%20with%20vanishing%20white%20matter%201)%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 (980)</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/39322394">Toxic leukoencephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandeira GA,
|
||
Lucato LT</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:455-486.
|
||
doi: 10.1016/B978-0-323-99209-1.00006-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322394" target="_blank">39322394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31174885">Leukodystrophies and genetic leukoencephalopathies in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarret C</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2020 Jan-Feb;176(1-2):10-19.
|
||
Epub 2019 Jun 4
|
||
doi: 10.1016/j.neurol.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31174885" target="_blank">31174885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31307818">Diagnosis, prognosis, and treatment of leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Schiffmann R,
|
||
Mochel F,
|
||
Wolf NI</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Oct;18(10):962-972.
|
||
Epub 2019 Jul 12
|
||
doi: 10.1016/S1474-4422(19)30143-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31307818" target="_blank">31307818</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (6612)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39322392">Adult inflammatory leukoencephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams T,
|
||
John N,
|
||
Doshi A,
|
||
Chataway J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:399-430.
|
||
doi: 10.1016/B978-0-323-99209-1.00003-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322392" target="_blank">39322392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31307818">Diagnosis, prognosis, and treatment of leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Schiffmann R,
|
||
Mochel F,
|
||
Wolf NI</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Oct;18(10):962-972.
|
||
Epub 2019 Jul 12
|
||
doi: 10.1016/S1474-4422(19)30143-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31307818" target="_blank">31307818</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/27618323">White Matter Diseases with Radiologic-Pathologic Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarbu N,
|
||
Shih RY,
|
||
Jones RV,
|
||
Horkayne-Szakaly I,
|
||
Oleaga L,
|
||
Smirniotopoulos JG</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2016 Sep-Oct;36(5):1426-47.
|
||
doi: 10.1148/rg.2016160031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27618323" target="_blank">27618323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19922732">Vasculitis-like Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bateman H,
|
||
Rehman A,
|
||
Valeriano-Marcet J</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2009 Dec;11(6):422-9.
|
||
doi: 10.1007/s11926-009-0062-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19922732" target="_blank">19922732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (9516)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38631769">Biomarkers for progressive multifocal leukoencephalopathy: emerging data for use of JC virus DNA copy number in clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese I,
|
||
Norato G,
|
||
Harrington PR,
|
||
Usher T,
|
||
Mainardi I,
|
||
Martin-Blondel G,
|
||
Cinque P,
|
||
Major EO,
|
||
Sheikh V</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 May;23(5):534-544.
|
||
doi: 10.1016/S1474-4422(24)00099-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38631769" target="_blank">38631769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34224249">Delayed leukoencephalopathy from suspected polymer embolism after neuroendovascular procedures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mellemkjær T,
|
||
Chandra RV,
|
||
Speiser L,
|
||
Ulhøi BP,
|
||
Simonsen CZ</span><br />
|
||
<span class="medgenPMjournal">Neuroradiol J</span>
|
||
2021 Aug;34(4):373-378.
|
||
Epub 2021 Jul 5
|
||
doi: 10.1177/19714009211029172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34224249" target="_blank">34224249</a><a href="/pmc/articles/PMC8447825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30333392">Capecitabine-induced Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimura K,
|
||
Tokunaga S,
|
||
Daga H,
|
||
Inoue M</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2019 Feb 15;58(4):621-622.
|
||
Epub 2018 Oct 17
|
||
doi: 10.2169/internalmedicine.0961-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30333392" target="_blank">30333392</a><a href="/pmc/articles/PMC6421135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26022168">Emerging treatments for pediatric leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Helman G,
|
||
Van Haren K,
|
||
Escolar ML,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Jun;62(3):649-66.
|
||
Epub 2015 Apr 8
|
||
doi: 10.1016/j.pcl.2015.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26022168" target="_blank">26022168</a><a href="/pmc/articles/PMC5712822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24550419">Methotrexate-induced neurotoxicity and leukoencephalopathy in childhood acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhojwani D,
|
||
Sabin ND,
|
||
Pei D,
|
||
Yang JJ,
|
||
Khan RB,
|
||
Panetta JC,
|
||
Krull KR,
|
||
Inaba H,
|
||
Rubnitz JE,
|
||
Metzger ML,
|
||
Howard SC,
|
||
Ribeiro RC,
|
||
Cheng C,
|
||
Reddick WE,
|
||
Jeha S,
|
||
Sandlund JT,
|
||
Evans WE,
|
||
Pui CH,
|
||
Relling MV</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2014 Mar 20;32(9):949-59.
|
||
Epub 2014 Feb 18
|
||
doi: 10.1200/JCO.2013.53.0808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24550419" target="_blank">24550419</a><a href="/pmc/articles/PMC3948096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (5288)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39322396">Vanishing white matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Bugiani M,
|
||
Abbink TEM</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:77-94.
|
||
doi: 10.1016/B978-0-323-99209-1.00015-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322396" target="_blank">39322396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39322394">Toxic leukoencephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandeira GA,
|
||
Lucato LT</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:455-486.
|
||
doi: 10.1016/B978-0-323-99209-1.00006-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322394" target="_blank">39322394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35942509">Leukoencephalopathy with calcifications and cysts: a case study with long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lomidze G,
|
||
Chutkerashvili G,
|
||
Tskhvaradze S,
|
||
Gzirishvili N,
|
||
Kasradze S</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2022 Dec 1;24(6):1110-1115.
|
||
doi: 10.1684/epd.2022.1478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35942509" target="_blank">35942509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31307818">Diagnosis, prognosis, and treatment of leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Schiffmann R,
|
||
Mochel F,
|
||
Wolf NI</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Oct;18(10):962-972.
|
||
Epub 2019 Jul 12
|
||
doi: 10.1016/S1474-4422(19)30143-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31307818" target="_blank">31307818</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (4490)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39322396">Vanishing white matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Bugiani M,
|
||
Abbink TEM</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:77-94.
|
||
doi: 10.1016/B978-0-323-99209-1.00015-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322396" target="_blank">39322396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32771981">Brain creatine for predicting clinical course in white matter disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ostojic SM</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2020 Oct;45:102441.
|
||
Epub 2020 Aug 4
|
||
doi: 10.1016/j.msard.2020.102441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32771981" target="_blank">32771981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32651742">Importance of Not MSing Cerebral White Matter Disease in Patients with Inflammatory Bowel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Regner EH,
|
||
Green AJ,
|
||
Bain JL,
|
||
Kattah MG,
|
||
Mahadevan U</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2020 Sep;65(9):2527-2532.
|
||
doi: 10.1007/s10620-020-06449-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32651742" target="_blank">32651742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30422209">Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debette S,
|
||
Schilling S,
|
||
Duperron MG,
|
||
Larsson SC,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2019 Jan 1;76(1):81-94.
|
||
doi: 10.1001/jamaneurol.2018.3122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30422209" target="_blank">30422209</a><a href="/pmc/articles/PMC6439887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15018695">Caregiver-Administered Neuropsychiatric Inventory (CGA-NPI).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang SJ,
|
||
Choi SH,
|
||
Lee BH,
|
||
Jeong Y,
|
||
Hahm DS,
|
||
Han IW,
|
||
Cummings JL,
|
||
Na DL</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
2004 Mar;17(1):32-5.
|
||
doi: 10.1177/089198873258818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15018695" target="_blank">15018695</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (4948)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35366021">Sleep apnea and the risk of dementia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guay-Gagnon M,
|
||
Vat S,
|
||
Forget MF,
|
||
Tremblay-Gravel M,
|
||
Ducharme S,
|
||
Nguyen QD,
|
||
Desmarais P</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2022 Oct;31(5):e13589.
|
||
Epub 2022 Apr 2
|
||
doi: 10.1111/jsr.13589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35366021" target="_blank">35366021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35301183">Physical activity as a protective factor for dementia and Alzheimer's disease: systematic review, meta-analysis and quality assessment of cohort and case-control studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iso-Markku P,
|
||
Kujala UM,
|
||
Knittle K,
|
||
Polet J,
|
||
Vuoksimaa E,
|
||
Waller K</span><br />
|
||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2022 Jun;56(12):701-709.
|
||
Epub 2022 Mar 17
|
||
doi: 10.1136/bjsports-2021-104981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35301183" target="_blank">35301183</a><a href="/pmc/articles/PMC9163715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34918337">Antipsychotics for agitation and psychosis in people with Alzheimer's disease and vascular dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mühlbauer V,
|
||
Möhler R,
|
||
Dichter MN,
|
||
Zuidema SU,
|
||
Köpke S,
|
||
Luijendijk HJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Dec 17;12(12):CD013304.
|
||
doi: 10.1002/14651858.CD013304.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34918337" target="_blank">34918337</a><a href="/pmc/articles/PMC8678509" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34313331">Mini-Mental State Examination (MMSE) for the early detection of dementia in people with mild cognitive impairment (MCI).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arevalo-Rodriguez I,
|
||
Smailagic N,
|
||
Roqué-Figuls M,
|
||
Ciapponi A,
|
||
Sanchez-Perez E,
|
||
Giannakou A,
|
||
Pedraza OL,
|
||
Bonfill Cosp X,
|
||
Cullum S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Jul 27;7(7):CD010783.
|
||
doi: 10.1002/14651858.CD010783.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34313331" target="_blank">34313331</a><a href="/pmc/articles/PMC8406467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31884487">The Prevalence of Dementia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Q,
|
||
Tan CC,
|
||
Xu W,
|
||
Hu H,
|
||
Cao XP,
|
||
Dong Q,
|
||
Tan L,
|
||
Yu JT</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2020;73(3):1157-1166.
|
||
doi: 10.3233/JAD-191092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31884487" target="_blank">31884487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%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 (237)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5779972%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5779972%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5779972%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5779972%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603896" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99854" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Leukoencephalopathy%20with%20vanishing%20white%20matter%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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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>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(leukoencephalopathy%20with%20vanishing%20white%20matter%201)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Leukoencephalopathy%20with%20vanishing%20white%20matter%201%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606686" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1967[geneid]" target="_blank">View EIF2B1 variations in ClinVar</a></li><li><a href="/nuccore/269315848" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=603896" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/leukoencephalopathy_with_vanishing_white_matter_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Leukoencephalopathy%20with%20vanishing%20white%20matter%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16919/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301435" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Leukoencephalopathy%20with%20vanishing%20white%20matter%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Leukoencephalopathy%20with%20vanishing%20white%20matter%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830482" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1830482" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5779972[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5779972[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1830482" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1830482" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1830482" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1830482" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1830482" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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