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<meta name="keywords" content="C2938912, hyperintensity of cerebral white matter on mri, pathologic function, white matter hyperintensities, white matter hyperintensity, 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="A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hyperintensity of cerebral white matter on MRI (Concept Id: C2938912)
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<!--
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||
UID=811125
|
||
ConceptID=C2938912
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperintensity of cerebral white matter on MRI</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811125</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:">C2938912</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>White matter hyperintensities</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030890">HP:0030890</a></td></tr>
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</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<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>
|
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<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="TLline">Hyperintensity of cerebral white matter on MRI</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/866852" ref="tree=MeSH" title="MedGen record for Abnormal cerebral subcortex morphology">Abnormal cerebral subcortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/181756" ref="tree=MeSH" title="MedGen record for Abnormal cerebral white matter morphology">Abnormal cerebral white matter morphology</a></span><ul><li><span class="matched_ds">Hyperintensity of cerebral white matter on MRI</span><ul><li><span class="TLline"><a href="/medgen/1647724" ref="tree=MeSH" title="MedGen record for Confluent hyperintensity of cerebral white matter on MRI">Confluent hyperintensity of cerebral white matter on MRI</a></span></li><li><span class="TLline"><a href="/medgen/927594" ref="tree=MeSH" title="MedGen record for Deep cerebral white matter hyperintensities">Deep cerebral white matter hyperintensities</a></span></li><li><span class="TLline"><a href="/medgen/1644331" ref="tree=MeSH" title="MedGen record for Focal hyperintensity of cerebral white matter on MRI">Focal hyperintensity of cerebral white matter on MRI</a></span></li><li><span class="TLline"><a href="/medgen/1639379" ref="tree=MeSH" title="MedGen record for Multifocal hyperintensity of cerebral white matter on MRI">Multifocal hyperintensity of cerebral white matter on MRI</a></span></li><li><span class="TLline"><a href="/medgen/927595" ref="tree=MeSH" title="MedGen record for Periventricular white matter hyperintensities">Periventricular white matter hyperintensities</a></span><ul><li><span class="TLline"><a href="/medgen/868266" ref="tree=MeSH" title="MedGen record for Punctate periventricular T2 hyperintense foci">Punctate periventricular T2 hyperintense foci</a></span></li><li><span class="TLline"><a href="/medgen/1369994" ref="tree=MeSH" title="MedGen record for Subtentorial periventricular white matter hyperdensity">Subtentorial periventricular white matter hyperdensity</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78695"><div><strong>Sulfite oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78695</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.">C0268624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of isolated sulfite oxidase deficiency ranges from classic early-onset (severe) disease to late-onset (mild) disease. Classic ISOD is characterized in the first few hours to days of life by intractable seizures, feeding difficulties, and rapidly progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs) followed by progressive microcephaly and profound intellectual disability. Lens subluxation or dislocation, another characteristic finding, may be evident after the newborn period. Children usually die during the first few months of life. Late-onset ISOD manifests between ages six and 18 months and is characterized by ectopia lentis (variably present), developmental delay/regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and (rarely) acute hemiplegia as a result of metabolic stroke. The clinical course may be progressive or episodic. In the episodic form encephalopathy, dystonia, choreoathetosis, and/or ataxia are intermittent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78695">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376521"><div><strong>Hereditary spastic paraplegia 5A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376521</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.">C1849115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13; SPG92 (620911), caused by mutation in the FICD gene (620875) on chromosome 12q23; and SPG93 (620938), caused by mutation in the NFU1 gene (608100) on chromosome 2p13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041). A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376521">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_392873"><div><strong>Krabbe disease due to saposin A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>392873</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.">C2673266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/392873">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462251"><div><strong>Hereditary spastic paraplegia 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462251</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.">C3150901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by Hirst et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462251">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815813"><div><strong>Specific language impairment 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815813</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.">C3809483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Specific language impairment-5 (SLI5) is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/815813">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_895965"><div><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895965</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.">C4225211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/895965">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934584"><div><strong>Intellectual developmental disorder with dysmorphic facies and ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934584</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.">C4310617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017). See also chromosome 3p deletion syndrome (613792).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934584">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934621"><div><strong>Congenital myasthenic syndrome 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934621</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.">C4310654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934621">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934732"><div><strong>Hypermanganesemia with dystonia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934732</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.">C4310765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade, they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have died in their first decade due to secondary complications such as respiratory infections. One individual with disease onset during the late teens has been reported, suggesting that milder adult presentation can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1626007"><div><strong>Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626007</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.">C4540086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset neurodegeneration with brain atrophy (CONDBA) is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1626007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623344"><div><strong>Intellectual disability, autosomal dominant 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623344</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.">C4540481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639327"><div><strong>Rubinstein-Taybi syndrome due to CREBBP mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639327</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.">C4551859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-related RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639327">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1678789"><div><strong>Brain abnormalities, neurodegeneration, and dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678789</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.">C5193117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1678789">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1684781"><div><strong>Microangiopathy and leukoencephalopathy, pontine, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684781</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.">C5231411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a form of cerebral small vessel disease (CSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, but variable, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions. Although there are overlapping clinical features, the disorder is genetically and pathologically distinct from CADASIL (125310) (summary by Verdura et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684781">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1732052"><div><strong>Combined oxidative phosphorylation deficiency 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1732052</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.">C5436602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1732052">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1782861"><div><strong>Mitochondrial complex 2 deficiency, nuclear type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782861</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.">C5543176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782861">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1784907"><div><strong>Marbach-Rustad progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784907</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.">C5543388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784907">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1798903"><div><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798903</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.">C5567480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798903">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1811526"><div><strong>Gastrointestinal defects and immunodeficiency syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811526</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.">C5676901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1811526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809227"><div><strong>Chromosome Xq13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809227</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.">C5677057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809227">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841049"><div><strong>Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841049</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.">C5830413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Affected individuals have postnatal progressive microcephaly and may show poor overall growth and dysmorphic facial features. Additional more variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain imaging is abnormal in most patients, showing myelination defects, cortical atrophy, or thin corpus callosum. There is phenotypic variability, even within families (Bogershausen et al., 2022; Lin et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841232"><div><strong>Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841232</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.">C5830596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) is an autosomal recessive neurologic disorder characterized by the onset of features in infancy or early childhood. Affected individuals show hypotonia, severe motor delay with ataxic gait or sometimes an inability to achieve walking, and impaired intellectual development with speech and language delay. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Additional features may include seizures (in some), dysmorphic facial features, poor overall growth, and variable brain imaging abnormalities (Tepe et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848439"><div><strong>Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848439</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.">C5882675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845523"><div><strong>Developmental and epileptic encephalopathy 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845523</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.">C5882700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-112 (DEE112) is an autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound impairment (summary by Happ et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845523">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain abnormalities, neurodegeneration, and dysosteosclerosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1626007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome Xq13 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1732052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 48</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (26)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 112</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1811526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal defects and immunodeficiency syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 48</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 5A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermanganesemia with dystonia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and ptosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 53</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_392873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Krabbe disease due to saposin A deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marbach-Rustad progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microangiopathy and leukoencephalopathy, pontine, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 2 deficiency, nuclear type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rubinstein-Taybi syndrome due to CREBBP mutations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific language impairment 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sulfite oxidase deficiency</a></div></span></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/36864688">The radiologically isolated syndrome: revised diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lebrun-Frénay C,
|
||
Okuda DT,
|
||
Siva A,
|
||
Landes-Chateau C,
|
||
Azevedo CJ,
|
||
Mondot L,
|
||
Carra-Dallière C,
|
||
Zephir H,
|
||
Louapre C,
|
||
Durand-Dubief F,
|
||
Le Page E,
|
||
Bensa C,
|
||
Ruet A,
|
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Ciron J,
|
||
Laplaud DA,
|
||
Casez O,
|
||
Mathey G,
|
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de Seze J,
|
||
Zeydan B,
|
||
Makhani N,
|
||
Tutuncu M,
|
||
Levraut M,
|
||
Cohen M,
|
||
Thouvenot E,
|
||
Pelletier D,
|
||
Kantarci OH</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3431-3443.
|
||
doi: 10.1093/brain/awad073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36864688" target="_blank">36864688</a><a href="/pmc/articles/PMC11004931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35841910">The Boston criteria version 2.0 for cerebral amyloid angiopathy: a multicentre, retrospective, MRI-neuropathology diagnostic accuracy study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charidimou A,
|
||
Boulouis G,
|
||
Frosch MP,
|
||
Baron JC,
|
||
Pasi M,
|
||
Albucher JF,
|
||
Banerjee G,
|
||
Barbato C,
|
||
Bonneville F,
|
||
Brandner S,
|
||
Calviere L,
|
||
Caparros F,
|
||
Casolla B,
|
||
Cordonnier C,
|
||
Delisle MB,
|
||
Deramecourt V,
|
||
Dichgans M,
|
||
Gokcal E,
|
||
Herms J,
|
||
Hernandez-Guillamon M,
|
||
Jäger HR,
|
||
Jaunmuktane Z,
|
||
Linn J,
|
||
Martinez-Ramirez S,
|
||
Martínez-Sáez E,
|
||
Mawrin C,
|
||
Montaner J,
|
||
Moulin S,
|
||
Olivot JM,
|
||
Piazza F,
|
||
Puy L,
|
||
Raposo N,
|
||
Rodrigues MA,
|
||
Roeber S,
|
||
Romero JR,
|
||
Samarasekera N,
|
||
Schneider JA,
|
||
Schreiber S,
|
||
Schreiber F,
|
||
Schwall C,
|
||
Smith C,
|
||
Szalardy L,
|
||
Varlet P,
|
||
Viguier A,
|
||
Wardlaw JM,
|
||
Warren A,
|
||
Wollenweber FA,
|
||
Zedde M,
|
||
van Buchem MA,
|
||
Gurol ME,
|
||
Viswanathan A,
|
||
Al-Shahi Salman R,
|
||
Smith EE,
|
||
Werring DJ,
|
||
Greenberg SM</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2022 Aug;21(8):714-725.
|
||
doi: 10.1016/S1474-4422(22)00208-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35841910" target="_blank">35841910</a><a href="/pmc/articles/PMC9389452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26720093">Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auriel E,
|
||
Charidimou A,
|
||
Gurol ME,
|
||
Ni J,
|
||
Van Etten ES,
|
||
Martinez-Ramirez S,
|
||
Boulouis G,
|
||
Piazza F,
|
||
DiFrancesco JC,
|
||
Frosch MP,
|
||
Pontes-Neto OV,
|
||
Shoamanesh A,
|
||
Reijmer Y,
|
||
Vashkevich A,
|
||
Ayres AM,
|
||
Schwab KM,
|
||
Viswanathan A,
|
||
Greenberg SM</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2016 Feb;73(2):197-202.
|
||
doi: 10.1001/jamaneurol.2015.4078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26720093" target="_blank">26720093</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyperintensity%20of%20cerebral%20white%20matter%20on%20mri)%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 (91)</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/36971336">Choroid Plexus Enlargement Exacerbates White Matter Hyperintensity Growth through Glymphatic Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhou Y,
|
||
Zhong W,
|
||
Zhu X,
|
||
Chen Y,
|
||
Zhang K,
|
||
He Y,
|
||
Luo Z,
|
||
Ran W,
|
||
Sun J,
|
||
Lou M</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2023 Jul;94(1):182-195.
|
||
Epub 2023 Apr 11
|
||
doi: 10.1002/ana.26648.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971336" target="_blank">36971336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35943854">Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
|
||
Knol MJ,
|
||
Wang R,
|
||
Mishra A,
|
||
Liu D,
|
||
Luciano M,
|
||
Teumer A,
|
||
Armstrong N,
|
||
Bis JC,
|
||
Jhun MA,
|
||
Li S,
|
||
Adams HHH,
|
||
Aziz NA,
|
||
Bastin ME,
|
||
Bourgey M,
|
||
Brody JA,
|
||
Frenzel S,
|
||
Gottesman RF,
|
||
Hosten N,
|
||
Hou L,
|
||
Kardia SLR,
|
||
Lohner V,
|
||
Marquis P,
|
||
Maniega SM,
|
||
Satizabal CL,
|
||
Sorond FA,
|
||
Valdés Hernández MC,
|
||
van Duijn CM,
|
||
Vernooij MW,
|
||
Wittfeld K,
|
||
Yang Q,
|
||
Zhao W,
|
||
Boerwinkle E,
|
||
Levy D,
|
||
Deary IJ,
|
||
Jiang J,
|
||
Mather KA,
|
||
Mosley TH,
|
||
Psaty BM,
|
||
Sachdev PS,
|
||
Smith JA,
|
||
Sotoodehnia N,
|
||
DeCarli CS,
|
||
Breteler MMB,
|
||
Ikram MA,
|
||
Grabe HJ,
|
||
Wardlaw J,
|
||
Longstreth WT,
|
||
Launer LJ,
|
||
Seshadri S,
|
||
Debette S,
|
||
Fornage M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Feb 13;146(2):492-506.
|
||
doi: 10.1093/brain/awac290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35943854" target="_blank">35943854</a><a href="/pmc/articles/PMC9924914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34058855">Blood Pressure Determinants of Cerebral White Matter Hyperintensities and Microstructural Injury: UK Biobank Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wartolowska KA,
|
||
Webb AJS</span><br />
|
||
<span class="medgenPMjournal">Hypertension</span>
|
||
2021 Aug;78(2):532-539.
|
||
Epub 2021 Jun 1
|
||
doi: 10.1161/HYPERTENSIONAHA.121.17403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34058855" target="_blank">34058855</a><a href="/pmc/articles/PMC8260341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33768739">Cerebral small vessel disease: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chojdak-Łukasiewicz J,
|
||
Dziadkowiak E,
|
||
Zimny A,
|
||
Paradowski B</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2021 Mar;30(3):349-356.
|
||
doi: 10.17219/acem/131216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33768739" target="_blank">33768739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28478812">Migraine white matter hyperintensities and cerebral microinfarcts are silent cryptogenic strokes and relate to dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggers AE</span><br />
|
||
<span class="medgenPMjournal">Med Hypotheses</span>
|
||
2017 May;102:1-3.
|
||
Epub 2017 Mar 6
|
||
doi: 10.1016/j.mehy.2017.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28478812" target="_blank">28478812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (3938)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37506413">Neuroticism and white matter hyperintensities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terracciano A,
|
||
Cenatus B,
|
||
Zhu X,
|
||
Karakose S,
|
||
Stephan Y,
|
||
Marcolini S,
|
||
De Deyn PP,
|
||
Luchetti M,
|
||
Sutin AR</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2023 Sep;165:174-179.
|
||
Epub 2023 Jul 21
|
||
doi: 10.1016/j.jpsychires.2023.07.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37506413" target="_blank">37506413</a><a href="/pmc/articles/PMC10528519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33768739">Cerebral small vessel disease: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chojdak-Łukasiewicz J,
|
||
Dziadkowiak E,
|
||
Zimny A,
|
||
Paradowski B</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2021 Mar;30(3):349-356.
|
||
doi: 10.17219/acem/131216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33768739" target="_blank">33768739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31682983">White matter hyperintensities and their relationship to cognition: Effects of segmentation algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tubi MA,
|
||
Feingold FW,
|
||
Kothapalli D,
|
||
Hare ET,
|
||
King KS,
|
||
Thompson PM,
|
||
Braskie MN;
|
||
Alzheimer’s Disease Neuroimaging Initiative</span><br />
|
||
<span class="medgenPMjournal">Neuroimage</span>
|
||
2020 Feb 1;206:116327.
|
||
Epub 2019 Nov 1
|
||
doi: 10.1016/j.neuroimage.2019.116327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31682983" target="_blank">31682983</a><a href="/pmc/articles/PMC6981030" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27049156">A new horizon of cerebral white matter hyperintensity in geriatric medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakurai T,
|
||
Tomimoto H,
|
||
Pantoni L</span><br />
|
||
<span class="medgenPMjournal">Geriatr Gerontol Int</span>
|
||
2015 Dec;15 Suppl 1:1-2.
|
||
doi: 10.1111/ggi.12714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27049156" target="_blank">27049156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26671155">Diabetes mellitus and white matter hyperintensity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamura Y,
|
||
Araki A</span><br />
|
||
<span class="medgenPMjournal">Geriatr Gerontol Int</span>
|
||
2015 Dec;15 Suppl 1:34-42.
|
||
doi: 10.1111/ggi.12666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26671155" target="_blank">26671155</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (2635)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38465597">Relationship of Perivascular Space Markers With Incident Dementia in Cerebral Small Vessel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong H,
|
||
Tozer DJ,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2024 Apr;55(4):1032-1040.
|
||
Epub 2024 Mar 11
|
||
doi: 10.1161/STROKEAHA.123.045857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38465597" target="_blank">38465597</a><a href="/pmc/articles/PMC10962441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38079177">Diagnostic Performance of Cortical Lesions and the Central Vein Sign in Multiple Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cagol A,
|
||
Cortese R,
|
||
Barakovic M,
|
||
Schaedelin S,
|
||
Ruberte E,
|
||
Absinta M,
|
||
Barkhof F,
|
||
Calabrese M,
|
||
Castellaro M,
|
||
Ciccarelli O,
|
||
Cocozza S,
|
||
De Stefano N,
|
||
Enzinger C,
|
||
Filippi M,
|
||
Jurynczyk M,
|
||
Maggi P,
|
||
Mahmoudi N,
|
||
Messina S,
|
||
Montalban X,
|
||
Palace J,
|
||
Pontillo G,
|
||
Pröbstel AK,
|
||
Rocca MA,
|
||
Ropele S,
|
||
Rovira À,
|
||
Schoonheim MM,
|
||
Sowa P,
|
||
Strijbis E,
|
||
Wattjes MP,
|
||
Sormani MP,
|
||
Kappos L,
|
||
Granziera C;
|
||
MAGNIMS Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2024 Feb 1;81(2):143-153.
|
||
doi: 10.1001/jamaneurol.2023.4737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38079177" target="_blank">38079177</a><a href="/pmc/articles/PMC10714285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36610309">Prevalence and clinical characteristics of white matter hyperintensities in Migraine: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Cheng Z,
|
||
Fu F,
|
||
Zhan Z</span><br />
|
||
<span class="medgenPMjournal">Neuroimage Clin</span>
|
||
2023;37:103312.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1016/j.nicl.2023.103312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36610309" target="_blank">36610309</a><a href="/pmc/articles/PMC9827384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35943854">Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
|
||
Knol MJ,
|
||
Wang R,
|
||
Mishra A,
|
||
Liu D,
|
||
Luciano M,
|
||
Teumer A,
|
||
Armstrong N,
|
||
Bis JC,
|
||
Jhun MA,
|
||
Li S,
|
||
Adams HHH,
|
||
Aziz NA,
|
||
Bastin ME,
|
||
Bourgey M,
|
||
Brody JA,
|
||
Frenzel S,
|
||
Gottesman RF,
|
||
Hosten N,
|
||
Hou L,
|
||
Kardia SLR,
|
||
Lohner V,
|
||
Marquis P,
|
||
Maniega SM,
|
||
Satizabal CL,
|
||
Sorond FA,
|
||
Valdés Hernández MC,
|
||
van Duijn CM,
|
||
Vernooij MW,
|
||
Wittfeld K,
|
||
Yang Q,
|
||
Zhao W,
|
||
Boerwinkle E,
|
||
Levy D,
|
||
Deary IJ,
|
||
Jiang J,
|
||
Mather KA,
|
||
Mosley TH,
|
||
Psaty BM,
|
||
Sachdev PS,
|
||
Smith JA,
|
||
Sotoodehnia N,
|
||
DeCarli CS,
|
||
Breteler MMB,
|
||
Ikram MA,
|
||
Grabe HJ,
|
||
Wardlaw J,
|
||
Longstreth WT,
|
||
Launer LJ,
|
||
Seshadri S,
|
||
Debette S,
|
||
Fornage M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Feb 13;146(2):492-506.
|
||
doi: 10.1093/brain/awac290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35943854" target="_blank">35943854</a><a href="/pmc/articles/PMC9924914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30251566">Cerebral Small Vessel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Yang Y,
|
||
Reis C,
|
||
Tao T,
|
||
Li W,
|
||
Li X,
|
||
Zhang JH</span><br />
|
||
<span class="medgenPMjournal">Cell Transplant</span>
|
||
2018 Dec;27(12):1711-1722.
|
||
Epub 2018 Sep 25
|
||
doi: 10.1177/0963689718795148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30251566" target="_blank">30251566</a><a href="/pmc/articles/PMC6300773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (915)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39496600">Genetic risk factors underlying white matter hyperintensities and cortical atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel Y,
|
||
Shin J,
|
||
Sliz E,
|
||
Tang A,
|
||
Mishra A,
|
||
Xia R,
|
||
Hofer E,
|
||
Rajula HSR,
|
||
Wang R,
|
||
Beyer F,
|
||
Horn K,
|
||
Riedl M,
|
||
Yu J,
|
||
Völzke H,
|
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Bülow R,
|
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Völker U,
|
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Frenzel S,
|
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Wittfeld K,
|
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Van der Auwera S,
|
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Mosley TH,
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Bouteloup V,
|
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Lambert JC,
|
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Chêne G,
|
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Dufouil C,
|
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Tzourio C,
|
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Mangin JF,
|
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Gottesman RF,
|
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Fornage M,
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Schmidt R,
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Yang Q,
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Witte V,
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Scholz M,
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Loeffler M,
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Roshchupkin GV,
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Ikram MA,
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Grabe HJ,
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Seshadri S,
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Debette S,
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Paus T,
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<div class="nl"><a target="_blank" href="/pubmed/39400198">Enhancing cognitive performance prediction by white matter hyperintensity connectivity assessment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Petersen M,
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Coenen M,
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DeCarli C,
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van der Lelij E;
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Alzheimer’s Disease Neuroimaging Initiative,
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Chen CPLH,
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Duering M,
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Exalto LG,
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Hofer E,
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Maier AB,
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Maillard PM,
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Papma JM,
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Pijnenburg YAL,
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Schmidt R,
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Steketee RME,
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van der Flier WM,
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Venkatraghavan V,
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Venketasubramanian N,
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Vernooij MW,
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Wolters FJ,
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Xu X,
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Horn A,
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Patil KR,
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Eickhoff SB,
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Thomalla G,
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Biessels GJ,
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Cheng B</span><br />
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<span class="medgenPMjournal">Brain</span>
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<span class="bold">PMID: </span><a href="/pubmed/39400198" target="_blank">39400198</a><a href="/pmc/articles/PMC11629703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39129270">Association of cortical morphology, white matter hyperintensity, and glymphatic function in frontotemporal dementia variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xiao D,
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Li J,
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Ren Z,
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Dai M,
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Jiang Y,
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Qiu T,
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Zhang H,
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Chen Y,
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Zhang Y,
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Zhang Y,
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Palaniyappan L;
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Frontotemporal Lobar Degeneration Neuroimaging Initiative</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/38704728">Impaired Meningeal Lymphatics and Glymphatic Pathway in Patients with White Matter Hyperintensity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
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Xue R,
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Li Y,
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Ran W,
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Chen Y,
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Luo Z,
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<span class="bold">PMID: </span><a href="/pubmed/38704728" target="_blank">38704728</a><a href="/pmc/articles/PMC11234435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38561806">White matter hyperintensity patterns: associations with comorbidities, amyloid, and cognition.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann D,
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von Rickenbach B,
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Buchmann A,
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Hüllner M,
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Zuber I,
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Studer S,
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Saake A,
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Rauen K,
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Gruber E,
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Nitsch RM,
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Hock C,
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Treyer V,
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Gietl A</span><br />
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<span class="medgenPMjournal">Alzheimers Res Ther</span>
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2024 Apr 1;16(1):67.
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doi: 10.1186/s13195-024-01435-6.
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<span class="bold">PMID: </span><a href="/pubmed/38561806" target="_blank">38561806</a><a href="/pmc/articles/PMC10983708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (1762)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39496600">Genetic risk factors underlying white matter hyperintensities and cortical atrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel Y,
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Shin J,
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Sliz E,
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Tang A,
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Mishra A,
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Xia R,
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Hofer E,
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Rajula HSR,
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Wang R,
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Beyer F,
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Horn K,
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Riedl M,
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Yu J,
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Völzke H,
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Bülow R,
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Völker U,
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Frenzel S,
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Wittfeld K,
|
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Van der Auwera S,
|
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Mosley TH,
|
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Bouteloup V,
|
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Lambert JC,
|
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Chêne G,
|
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Dufouil C,
|
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Tzourio C,
|
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Mangin JF,
|
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Gottesman RF,
|
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Fornage M,
|
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Schmidt R,
|
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Yang Q,
|
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Witte V,
|
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Scholz M,
|
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Loeffler M,
|
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Roshchupkin GV,
|
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Ikram MA,
|
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Grabe HJ,
|
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Seshadri S,
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Debette S,
|
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Paus T,
|
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Pausova Z</span><br />
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<span class="medgenPMjournal">Nat Commun</span>
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2024 Nov 4;15(1):9517.
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doi: 10.1038/s41467-024-53689-1.
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<span class="bold">PMID: </span><a href="/pubmed/39496600" target="_blank">39496600</a><a href="/pmc/articles/PMC11535513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/39400198">Enhancing cognitive performance prediction by white matter hyperintensity connectivity assessment.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Petersen M,
|
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Coenen M,
|
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DeCarli C,
|
||
De Luca A,
|
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van der Lelij E;
|
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Alzheimer’s Disease Neuroimaging Initiative,
|
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Barkhof F,
|
||
Benke T,
|
||
Chen CPLH,
|
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Dal-Bianco P,
|
||
Dewenter A,
|
||
Duering M,
|
||
Enzinger C,
|
||
Ewers M,
|
||
Exalto LG,
|
||
Fletcher EM,
|
||
Franzmeier N,
|
||
Hilal S,
|
||
Hofer E,
|
||
Koek HL,
|
||
Maier AB,
|
||
Maillard PM,
|
||
McCreary CR,
|
||
Papma JM,
|
||
Pijnenburg YAL,
|
||
Schmidt R,
|
||
Smith EE,
|
||
Steketee RME,
|
||
van den Berg E,
|
||
van der Flier WM,
|
||
Venkatraghavan V,
|
||
Venketasubramanian N,
|
||
Vernooij MW,
|
||
Wolters FJ,
|
||
Xu X,
|
||
Horn A,
|
||
Patil KR,
|
||
Eickhoff SB,
|
||
Thomalla G,
|
||
Biesbroek JM,
|
||
Biessels GJ,
|
||
Cheng B</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Dec 3;147(12):4265-4279.
|
||
doi: 10.1093/brain/awae315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39400198" target="_blank">39400198</a><a href="/pmc/articles/PMC11629703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39217272">Disability independent of cerebral white matter demyelination in progressive multiple sclerosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Singh V,
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Zheng Y,
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Ontaneda D,
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Mahajan KR,
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Holloman J,
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Fox RJ,
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Nakamura K,
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Trapp BD</span><br />
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<span class="medgenPMjournal">Acta Neuropathol</span>
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2024 Aug 31;148(1):34.
|
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doi: 10.1007/s00401-024-02796-w.
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<span class="bold">PMID: </span><a href="/pubmed/39217272" target="_blank">39217272</a><a href="/pmc/articles/PMC11365858" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39129270">Association of cortical morphology, white matter hyperintensity, and glymphatic function in frontotemporal dementia variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao D,
|
||
Li J,
|
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Ren Z,
|
||
Dai M,
|
||
Jiang Y,
|
||
Qiu T,
|
||
Zhang H,
|
||
Chen Y,
|
||
Zhang Y,
|
||
Zhang Y,
|
||
Palaniyappan L;
|
||
Frontotemporal Lobar Degeneration Neuroimaging Initiative</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2024 Sep;20(9):6045-6059.
|
||
Epub 2024 Aug 11
|
||
doi: 10.1002/alz.14158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39129270" target="_blank">39129270</a><a href="/pmc/articles/PMC11497707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38561806">White matter hyperintensity patterns: associations with comorbidities, amyloid, and cognition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann D,
|
||
von Rickenbach B,
|
||
Buchmann A,
|
||
Hüllner M,
|
||
Zuber I,
|
||
Studer S,
|
||
Saake A,
|
||
Rauen K,
|
||
Gruber E,
|
||
Nitsch RM,
|
||
Hock C,
|
||
Treyer V,
|
||
Gietl A</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Res Ther</span>
|
||
2024 Apr 1;16(1):67.
|
||
doi: 10.1186/s13195-024-01435-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38561806" target="_blank">38561806</a><a href="/pmc/articles/PMC10983708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (2944)</a></div></div>
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||
</div>
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||
|
||
<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/36971037">Age-related white matter hyperintensities and overactive bladder: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva RPE,
|
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Sousa DA,
|
||
Lopes FA,
|
||
Silva-Ramos M,
|
||
Verdelho A</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
2023 Jun;42(5):1088-1100.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1002/nau.25174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971037" target="_blank">36971037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36610309">Prevalence and clinical characteristics of white matter hyperintensities in Migraine: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Cheng Z,
|
||
Fu F,
|
||
Zhan Z</span><br />
|
||
<span class="medgenPMjournal">Neuroimage Clin</span>
|
||
2023;37:103312.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1016/j.nicl.2023.103312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36610309" target="_blank">36610309</a><a href="/pmc/articles/PMC9827384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36453271">Clinical, Neuroimaging, and Genetic Markers in Cerebral Amyloid Angiopathy-Related Inflammation: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theodorou A,
|
||
Palaiodimou L,
|
||
Malhotra K,
|
||
Zompola C,
|
||
Katsanos AH,
|
||
Shoamanesh A,
|
||
Boviatsis E,
|
||
Dardiotis E,
|
||
Spilioti M,
|
||
Sacco S,
|
||
Werring DJ,
|
||
Cordonnier C,
|
||
Alexandrov AV,
|
||
Paraskevas GP,
|
||
Tsivgoulis G</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2023 Jan;54(1):178-188.
|
||
Epub 2022 Dec 1
|
||
doi: 10.1161/STROKEAHA.122.040671.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36453271" target="_blank">36453271</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/20660506">The clinical importance of white matter hyperintensities on brain magnetic resonance imaging: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debette S,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2010 Jul 26;341:c3666.
|
||
doi: 10.1136/bmj.c3666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20660506" target="_blank">20660506</a><a href="/pmc/articles/PMC2910261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%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 (85)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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