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<meta name="keywords" content="C3711381, adult-onset leukodystrophy with neuroaxonal spheroids, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, alsp, autosomal dominant leukoencephalopathy with neuroaxonal spheroids, csf1r, dementia, familial, neumann type, disease or syndrome, gliosis, familial progressive subcortical, gpsc, hdls, hdls - hereditary diffuse leukoencephalopathy with spheroids, hereditary diffuse leukoencephalopathy with axonal spheroids, hereditary diffuse leukoencephalopathy with spheroids, leukoencephalopathy with neuroaxonal spheroids, autosomal dominant, leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia, leukoencephalopathy, diffuse hereditary, with spheroids, leukoencephalopathy, hereditary diffuse, with spheroids, neuroaxonal leukodystrophy, pigmentary orthochromatic leukodystrophy, pold, subcortical gliosis of neumann, 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="The spectrum of CSF1R-related disorder ranges from early-onset disease (age <18 years) to late-onset disease (age =18 years). Early-onset disease is associated with hypotonia, delayed acquisition of developmental milestones, and non-neurologic manifestations (such as skeletal abnormalities); both early- and late-onset disease have similar neurodegenerative involvement. Most affected individuals eventually become bedridden with spasticity, rigidity, and loss of the ability to walk. They lose speech and voluntary movement and appear to be generally unaware of their surroundings. The last stage of disease progresses to a vegetative state with presence of primitive reflexes, such as visual and tactile grasp, mouth-opening reflex, and sucking reflex. Death most commonly results from pneumonia or other infections. About 500 individuals with CSF1R-related disorder have been reported to date." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hereditary diffuse leukoencephalopathy with spheroids (Concept Id: C3711381)
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<!--
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||
UID=777989
|
||
ConceptID=C3711381
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary diffuse leukoencephalopathy with spheroids<span class="h1sub">(GPSC; ALSP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777989</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."><span class="highlight" style="background-color:">C3711381</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary diffuse leukoencephalopathy with axonal spheroids (702427005); Adult-onset leukodystrophy with neuroaxonal spheroids (702427005); Hereditary diffuse leukoencephalopathy with spheroids (702427005); HDLS - hereditary diffuse leukoencephalopathy with spheroids (702427005)</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="CSF1R - ID: 1436 - NCBI Gene" href="/gene/1436" class="medgenPMinfo">CSF1R</a> (5q32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030796" target="_blank">MONDO:0030796</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/164770" target="_blank">164770</a>; <a href="https://omim.org/entry/221820" target="_blank">221820</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS221820" target="_blank">PS221820</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>
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<div class="portlet mgSection" id="ID_101">
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<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/NBK100239" target="_blank">CSF1R-Related Disorder</a></div><div>The spectrum of CSF1R-related disorder ranges from early-onset disease (age <18 years) to late-onset disease (age ≥18 years). Early-onset disease is associated with hypotonia, delayed acquisition of developmental milestones, and non-neurologic manifestations (such as skeletal abnormalities); both early- and late-onset disease have similar neurodegenerative involvement. Most affected individuals eventually become bedridden with spasticity, rigidity, and loss of the ability to walk. They lose speech and voluntary movement and appear to be generally unaware of their surroundings. The last stage of disease progresses to a vegetative state with presence of primitive reflexes, such as visual and tactile grasp, mouth-opening reflex, and sucking reflex. Death most commonly results from pneumonia or other infections. About 500 individuals with CSF1R-related disorder have been reported to date. [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/NBK100239#hdls.Summary" target="NBK100239">Summary</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.GeneReview_Scope" target="NBK100239">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Diagnosis" target="NBK100239">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Clinical_Characteristics" target="NBK100239">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Genetically_Related_Allelic_Disorde" target="NBK100239">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Differential_Diagnosis" target="NBK100239">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Management" target="NBK100239">Management</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Genetic_Counseling" target="NBK100239">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Resources" target="NBK100239">Resources</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Molecular_Genetics" target="NBK100239">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.Chapter_Notes" target="NBK100239">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK100239#hdls.References" target="NBK100239">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jaroslaw Dulski | Christina Sundal | Zbigniew K Wszolek <a href="/books/NBK100239" target="NBK100239" title="NCBI Bookshelf: CSF1R-Related Disorder">view full author information</a></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP.<br /><br />Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia).<br /><br />Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves.<br /><br />ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP. <a target="_blank" href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia">https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3711381[DISCUI]&test_type=Clinical" ref="ncbi_uid=777989">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777989" target="_blank" href="/omim/164770">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK100239/" ref="ncbi_uid=777989">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=777989" ref="ncbi_uid=777989">V</a></span></span><span class="TLline">Hereditary diffuse leukoencephalopathy with spheroids</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5561929[DISCUI]&test_type=Clinical" ref="ncbi_uid=1794139">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794139" target="_blank" href="/omim/221820">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK100239/" ref="ncbi_uid=1794139">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794139" ref="ncbi_uid=1794139">V</a></span></span><span class="TLline"><a href="/medgen/1794139" ref="tree=GTR&ncbi_uid=1794139&link_uid=1794139" title="View MedGen record for 'Leukoencephalopathy, diffuse hereditary, with spheroids 1'">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78722" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy">Leukoencephalopathy</a></span><ul><li><span class="matched_ds">Hereditary diffuse leukoencephalopathy with spheroids</span><ul><li><span class="TLline"><a href="/medgen/1794139" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, diffuse hereditary, with spheroids 1">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li></ul></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/28921817">Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Konno T,
|
||
Yoshida K,
|
||
Mizuta I,
|
||
Mizuno T,
|
||
Kawarai T,
|
||
Tada M,
|
||
Nozaki H,
|
||
Ikeda SI,
|
||
Onodera O,
|
||
Wszolek ZK,
|
||
Ikeuchi T</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2018 Jan;25(1):142-147.
|
||
Epub 2017 Oct 19
|
||
doi: 10.1111/ene.13464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28921817" target="_blank">28921817</a><a href="/pmc/articles/PMC5741468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32434903">How to diagnose difficult white matter disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams T,
|
||
Houlden H,
|
||
Murphy E,
|
||
John N,
|
||
Fox NC,
|
||
Schott JM,
|
||
Adams M,
|
||
Davagananam I,
|
||
Chataway J,
|
||
Lynch DS</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Aug;20(4):280-286.
|
||
Epub 2020 May 20
|
||
doi: 10.1136/practneurol-2020-002530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32434903" target="_blank">32434903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28025469">MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abe T,
|
||
Kawarai T,
|
||
Fujita K,
|
||
Sako W,
|
||
Terasawa Y,
|
||
Matsuda T,
|
||
Sakai W,
|
||
Tsukamoto-Miyashiro A,
|
||
Matsui N,
|
||
Izumi Y,
|
||
Kaji R,
|
||
Harada M</span><br />
|
||
<span class="medgenPMjournal">Magn Reson Med Sci</span>
|
||
2017 Oct 10;16(4):297-303.
|
||
Epub 2016 Dec 26
|
||
doi: 10.2463/mrms.mp.2016-0016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28025469" target="_blank">28025469</a><a href="/pmc/articles/PMC5743520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26756564">Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granberg T,
|
||
Hashim F,
|
||
Andersen O,
|
||
Sundal C,
|
||
Karrenbauer VD</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2016 Apr;23(4):817-22.
|
||
Epub 2016 Jan 12
|
||
doi: 10.1111/ene.12948.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26756564" target="_blank">26756564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24390523">Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita M,
|
||
Kondo Y,
|
||
Yoshida K,
|
||
Fukushima K,
|
||
Hoshi K,
|
||
Ishizawa K,
|
||
Araki N,
|
||
Yazawa I,
|
||
Washimi Y,
|
||
Saitoh B,
|
||
Kira J,
|
||
Ikeda S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2014;53(1):21-7.
|
||
doi: 10.2169/internalmedicine.53.0863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24390523" target="_blank">24390523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22050953">Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Lash J,
|
||
Aasly J,
|
||
Øygarden S,
|
||
Roeber S,
|
||
Kretzschman H,
|
||
Garbern JY,
|
||
Tselis A,
|
||
Rademakers R,
|
||
Dickson DW,
|
||
Broderick D,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2012 Mar 15;314(1-2):130-7.
|
||
Epub 2011 Nov 1
|
||
doi: 10.1016/j.jns.2011.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22050953" target="_blank">22050953</a><a href="/pmc/articles/PMC3275663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36973072">Skin Biopsy Used for the Diagnosis of Hereditary Diffuse Leukoencephalopathy With Spheroids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song C,
|
||
Wu F,
|
||
Liu Y,
|
||
Wu X,
|
||
Zhao Y</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):629-630.
|
||
Epub 2022 Dec 12
|
||
doi: 10.1212/WNL.0000000000201684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36973072" target="_blank">36973072</a><a href="/pmc/articles/PMC10065218" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31145310">Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi T,
|
||
Li J,
|
||
Tan C,
|
||
Chen J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 May;98(22):e15802.
|
||
doi: 10.1097/MD.0000000000015802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31145310" target="_blank">31145310</a><a href="/pmc/articles/PMC6709239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27338940">Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stabile C,
|
||
Taglia I,
|
||
Battisti C,
|
||
Bianchi S,
|
||
Federico A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2016 Sep;37(9):1565-9.
|
||
Epub 2016 Jun 23
|
||
doi: 10.1007/s10072-016-2634-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27338940" target="_blank">27338940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25311247">Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Baker M,
|
||
Karrenbauer V,
|
||
Gustavsen M,
|
||
Bedri S,
|
||
Glaser A,
|
||
Myhr KM,
|
||
Haugarvoll K,
|
||
Zetterberg H,
|
||
Harbo H,
|
||
Kockum I,
|
||
Hillert J,
|
||
Wszolek Z,
|
||
Rademakers R,
|
||
Andersen O</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2015 Feb;22(2):328-333.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1111/ene.12572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25311247" target="_blank">25311247</a><a href="/pmc/articles/PMC4289423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24908228">Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levin J,
|
||
Tiedt S,
|
||
Arzberger T,
|
||
Biskup S,
|
||
Schuberth M,
|
||
Stenglein-Krapf G,
|
||
Kreth FW,
|
||
Högen T,
|
||
la Fougère C,
|
||
Linn J,
|
||
van der Knaap MS,
|
||
Giese A,
|
||
Kretzschmar HA,
|
||
Danek A</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2014 Jul;122:113-5.
|
||
Epub 2014 May 4
|
||
doi: 10.1016/j.clineuro.2014.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24908228" target="_blank">24908228</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23787135">Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Fujioka S,
|
||
Van Gerpen JA,
|
||
Wider C,
|
||
Nicholson AM,
|
||
Baker M,
|
||
Shuster EA,
|
||
Aasly J,
|
||
Spina S,
|
||
Ghetti B,
|
||
Roeber S,
|
||
Garbern J,
|
||
Tselis A,
|
||
Swerdlow RH,
|
||
Miller BB,
|
||
Borjesson-Hanson A,
|
||
Uitti RJ,
|
||
Ross OA,
|
||
Stoessl AJ,
|
||
Rademakers R,
|
||
Josephs KA,
|
||
Dickson DW,
|
||
Broderick D,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2013 Oct;19(10):869-77.
|
||
Epub 2013 Jun 17
|
||
doi: 10.1016/j.parkreldis.2013.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23787135" target="_blank">23787135</a><a href="/pmc/articles/PMC3977389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32453488">Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangeat G,
|
||
Ouellette R,
|
||
Wabartha M,
|
||
De Leener B,
|
||
Plattén M,
|
||
Danylaité Karrenbauer V,
|
||
Warntjes M,
|
||
Stikov N,
|
||
Mainero C,
|
||
Cohen-Adad J,
|
||
Granberg T</span><br />
|
||
<span class="medgenPMjournal">J Neuroimaging</span>
|
||
2020 Sep;30(5):674-682.
|
||
Epub 2020 May 26
|
||
doi: 10.1111/jon.12725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32453488" target="_blank">32453488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30614382">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makary MS,
|
||
Awan U,
|
||
Kisanuki YY,
|
||
Slone HW</span><br />
|
||
<span class="medgenPMjournal">Neuroradiol J</span>
|
||
2019 Apr;32(2):139-142.
|
||
Epub 2019 Jan 7
|
||
doi: 10.1177/1971400918822136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30614382" target="_blank">30614382</a><a href="/pmc/articles/PMC6410452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25311247">Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Baker M,
|
||
Karrenbauer V,
|
||
Gustavsen M,
|
||
Bedri S,
|
||
Glaser A,
|
||
Myhr KM,
|
||
Haugarvoll K,
|
||
Zetterberg H,
|
||
Harbo H,
|
||
Kockum I,
|
||
Hillert J,
|
||
Wszolek Z,
|
||
Rademakers R,
|
||
Andersen O</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2015 Feb;22(2):328-333.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1111/ene.12572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25311247" target="_blank">25311247</a><a href="/pmc/articles/PMC4289423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23787135">Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Fujioka S,
|
||
Van Gerpen JA,
|
||
Wider C,
|
||
Nicholson AM,
|
||
Baker M,
|
||
Shuster EA,
|
||
Aasly J,
|
||
Spina S,
|
||
Ghetti B,
|
||
Roeber S,
|
||
Garbern J,
|
||
Tselis A,
|
||
Swerdlow RH,
|
||
Miller BB,
|
||
Borjesson-Hanson A,
|
||
Uitti RJ,
|
||
Ross OA,
|
||
Stoessl AJ,
|
||
Rademakers R,
|
||
Josephs KA,
|
||
Dickson DW,
|
||
Broderick D,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2013 Oct;19(10):869-77.
|
||
Epub 2013 Jun 17
|
||
doi: 10.1016/j.parkreldis.2013.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23787135" target="_blank">23787135</a><a href="/pmc/articles/PMC3977389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22050953">Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundal C,
|
||
Lash J,
|
||
Aasly J,
|
||
Øygarden S,
|
||
Roeber S,
|
||
Kretzschman H,
|
||
Garbern JY,
|
||
Tselis A,
|
||
Rademakers R,
|
||
Dickson DW,
|
||
Broderick D,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2012 Mar 15;314(1-2):130-7.
|
||
Epub 2011 Nov 1
|
||
doi: 10.1016/j.jns.2011.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22050953" target="_blank">22050953</a><a href="/pmc/articles/PMC3275663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32453488">Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangeat G,
|
||
Ouellette R,
|
||
Wabartha M,
|
||
De Leener B,
|
||
Plattén M,
|
||
Danylaité Karrenbauer V,
|
||
Warntjes M,
|
||
Stikov N,
|
||
Mainero C,
|
||
Cohen-Adad J,
|
||
Granberg T</span><br />
|
||
<span class="medgenPMjournal">J Neuroimaging</span>
|
||
2020 Sep;30(5):674-682.
|
||
Epub 2020 May 26
|
||
doi: 10.1111/jon.12725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32453488" target="_blank">32453488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30901701">Discriminative clinical and neuroimaging features of motor-predominant hereditary diffuse leukoencephalopathy with axonal spheroids and primary progressive multiple sclerosis: A preliminary cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saitoh BY,
|
||
Yamasaki R,
|
||
Hiwatashi A,
|
||
Matsushita T,
|
||
Hayashi S,
|
||
Mitsunaga Y,
|
||
Maeda Y,
|
||
Isobe N,
|
||
Yoshida K,
|
||
Ikeda SI,
|
||
Kira JI</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2019 Jun;31:22-31.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1016/j.msard.2019.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30901701" target="_blank">30901701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28025469">MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abe T,
|
||
Kawarai T,
|
||
Fujita K,
|
||
Sako W,
|
||
Terasawa Y,
|
||
Matsuda T,
|
||
Sakai W,
|
||
Tsukamoto-Miyashiro A,
|
||
Matsui N,
|
||
Izumi Y,
|
||
Kaji R,
|
||
Harada M</span><br />
|
||
<span class="medgenPMjournal">Magn Reson Med Sci</span>
|
||
2017 Oct 10;16(4):297-303.
|
||
Epub 2016 Dec 26
|
||
doi: 10.2463/mrms.mp.2016-0016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28025469" target="_blank">28025469</a><a href="/pmc/articles/PMC5743520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26756564">Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granberg T,
|
||
Hashim F,
|
||
Andersen O,
|
||
Sundal C,
|
||
Karrenbauer VD</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2016 Apr;23(4):817-22.
|
||
Epub 2016 Jan 12
|
||
doi: 10.1111/ene.12948.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26756564" target="_blank">26756564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25383640">Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riku Y,
|
||
Ando T,
|
||
Goto Y,
|
||
Mano K,
|
||
Iwasaki Y,
|
||
Sobue G,
|
||
Yoshida M</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
2014 Dec;73(12):1183-90.
|
||
doi: 10.1097/NEN.0000000000000139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25383640" target="_blank">25383640</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (19)</a></div></div>
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<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/34875121">Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mickeviciute GC,
|
||
Valiuskyte M,
|
||
Plattén M,
|
||
Wszolek ZK,
|
||
Andersen O,
|
||
Danylaité Karrenbauer V,
|
||
Ineichen BV,
|
||
Granberg T</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2022 Mar;291(3):269-282.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1111/joim.13420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34875121" target="_blank">34875121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29122458">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams SJ,
|
||
Kirk A,
|
||
Auer RN</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2018 Feb;48:42-49.
|
||
Epub 2017 Nov 6
|
||
doi: 10.1016/j.jocn.2017.10.060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29122458" target="_blank">29122458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3711381%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
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<li><a href="/gtr/tests?term=C3711381%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
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<li><a href="/gtr/tests?term=C3711381%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3711381%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS221820" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/leukoencephalopathy_hereditary_diffuse_with_spheroids_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10981/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
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<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>
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<div class="portlet_content">
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<ul>
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<li>
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<a href="/pubmed/22934315" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
||
<a href="/pubmed/clinical?term=Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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</li>
|
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<li>
|
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<a href="/pubmed?term=Hereditary%20diffuse%20leukoencephalopathy%20with%20spheroids%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=777989" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=777989" ref="log$=recordlinks">PubMed (OMIM)</a>
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Clear
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Turn Off
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb523184f3725e5937a2c4">Hereditary diffuse leukoencephalopathy with spheroids</a>
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<div class="ralinkpop offscreen_noflow">Hereditary diffuse leukoencephalopathy with spheroids<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5230f4a390645e3b56bc">C3711381[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb522f84f3725e593796f0">C1708349[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(110)</span></a>
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<div class="ralinkpop offscreen_noflow">C1708349[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb522eb15b832ebc062518">C0162531[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(80)</span></a>
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<div class="ralinkpop offscreen_noflow">C0162531[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb522d84f3725e59378f47">Hereditary coproporphyria</a>
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<div class="ralinkpop offscreen_noflow">Hereditary coproporphyria<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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