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<meta name="keywords" content="C4520981, abnormal basal ganglia morphology, abnormalities of the basal ganglia, abnormality of the basal ganglia, anatomical abnormality, anomaly of the basal ganglia, basal ganglia abnormalities, basal ganglia disease, basal ganglia disorder, collection of basal ganglia disease, collection of basal ganglia disease or disorder, disease of basal ganglia, disease of collection of basal ganglia, disease or disorder of collection of basal ganglia, disorder of basal ganglia, disorder of collection of basal ganglia, 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="Abnormality of the basal ganglia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1619147
|
||
ConceptID=C4520981
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal basal ganglia morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619147</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:">C4520981</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the basal ganglia</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:0002134">HP:0002134</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0003996" target="_blank">MONDO:0003996</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>
|
||
<div class="portlet_content ln">Abnormality of the basal ganglia. [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>
|
||
<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">Abnormal basal ganglia morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866852" ref="tree=MeSH" title="MedGen record for Abnormal cerebral subcortex morphology">Abnormal cerebral subcortex morphology</a></span><ul><li><span class="matched_ds">Abnormal basal ganglia morphology</span><ul><li><span class="TLline"><a href="/medgen/868351" ref="tree=MeSH" title="MedGen record for Abnormal basal ganglia MRI signal intensity">Abnormal basal ganglia MRI signal intensity</a></span><ul><li><span class="TLline"><a href="/medgen/892349" ref="tree=MeSH" title="MedGen record for Focal T2 hyperintense basal ganglia lesion">Focal T2 hyperintense basal ganglia lesion</a></span></li><li><span class="TLline"><a href="/medgen/868350" ref="tree=MeSH" title="MedGen record for Focal T2 hypointense basal ganglia lesion">Focal T2 hypointense basal ganglia lesion</a></span></li><li><span class="TLline"><a href="/medgen/868349" ref="tree=MeSH" title="MedGen record for T2 hypointense basal ganglia">T2 hypointense basal ganglia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869185" ref="tree=MeSH" title="MedGen record for Abnormal corpus striatum morphology">Abnormal corpus striatum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871230" ref="tree=MeSH" title="MedGen record for Abnormal caudate nucleus morphology">Abnormal caudate nucleus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868412" ref="tree=MeSH" title="MedGen record for Increased caudate lactate level">Increased caudate lactate level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671060" ref="tree=MeSH" title="MedGen record for Abnormal putamen morphology">Abnormal putamen morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1746902" ref="tree=MeSH" title="MedGen record for Agenesis of putamen">Agenesis of putamen</a></span></li><li><span class="TLline"><a href="/medgen/1814343" ref="tree=MeSH" title="MedGen record for Fusion of the caudate and putamen">Fusion of the caudate and putamen</a></span></li><li><span class="TLline"><a href="/medgen/1052976" ref="tree=MeSH" title="MedGen record for T2-hyperintense putaminal rim">T2-hyperintense putaminal rim</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868026" ref="tree=MeSH" title="MedGen record for Degeneration of the striatum">Degeneration of the striatum</a></span></li><li><span class="TLline"><a href="/medgen/1626830" ref="tree=MeSH" title="MedGen record for Striatal T2 hyperintensity">Striatal T2 hyperintensity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871225" ref="tree=MeSH" title="MedGen record for Abnormal globus pallidus morphology">Abnormal globus pallidus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1642590" ref="tree=MeSH" title="MedGen record for Globus pallidus calcification">Globus pallidus calcification</a></span></li><li><span class="TLline"><a href="/medgen/1747154" ref="tree=MeSH" title="MedGen record for Globus pallidus hypointensity on susceptibility-weighted imaging">Globus pallidus hypointensity on susceptibility-weighted imaging</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369249" ref="tree=MeSH" title="MedGen record for Basal ganglia edema">Basal ganglia edema</a></span></li><li><span class="TLline"><a href="/medgen/868635" ref="tree=MeSH" title="MedGen record for Basal ganglia necrosis">Basal ganglia necrosis</a></span></li><li><span class="TLline"><a href="/medgen/870485" ref="tree=MeSH" title="MedGen record for Bilateral basal ganglia lesions">Bilateral basal ganglia lesions</a></span></li><li><span class="TLline"><a href="/medgen/870505" ref="tree=MeSH" title="MedGen record for Cavitation of the basal ganglia">Cavitation of the basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/1370512" ref="tree=MeSH" title="MedGen record for Dysgenesis of the basal ganglia">Dysgenesis of the basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/395272" ref="tree=MeSH" title="MedGen record for Large basal ganglia">Large basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/413431" ref="tree=MeSH" title="MedGen record for Neuronal loss in basal ganglia">Neuronal loss in basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/868375" ref="tree=MeSH" title="MedGen record for Small basal ganglia">Small basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/927610" ref="tree=MeSH" title="MedGen record for Status cribrosum">Status cribrosum</a></span></li><li><span class="TLline"><a href="/medgen/870500" ref="tree=MeSH" title="MedGen record for Symmetric lesions of the basal ganglia">Symmetric lesions of the basal ganglia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_152917"><div><strong>Childhood apraxia of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152917</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.">C0750927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous FOXP2 pathogenic variants (including whole- or partial-gene deletions). The core phenotype of FOXP2-SLD is childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, and the accurate sequencing of speech sounds into syllables and syllables into words. CAS also interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. Additional findings in FOXP2-SLD can include oral-motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria; moderate-to-severe receptive and expressive language disorder; reading and spelling impairments; and fine motor difficulties. Nonverbal (performance) IQ is typically relatively preserved compared to verbal IQ; gross motor skills are normal. Autistic features or a diagnosis of autism spectrum disorder have been reported in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375289"><div><strong>Biotin-responsive basal ganglia disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375289</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.">C1843807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ten years with recurrent subacute encephalopathy manifesting as confusion, seizures, ataxia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia that, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. Adult Wernicke-like encephalopathy BTBGD, described in three individuals to date, presents after age ten years with acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in classic and adult BTBGD; however, most infants with early-infantile BTBGD have a poor outcome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413170"><div><strong>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413170</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.">C2749864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413170">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461100"><div><strong>Mitochondrial DNA depletion syndrome, myopathic form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461100</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.">C3149750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463103"><div><strong>Severe X-linked mitochondrial encephalomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463103</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.">C3151753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684846"><div><strong>Diencephalic-mesencephalic junction dysplasia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684846</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.">C5231440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019). For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684846">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotin-responsive basal ganglia disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_152917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Childhood apraxia of speech</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diencephalic-mesencephalic junction dysplasia syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, myopathic form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe X-linked mitochondrial encephalomyopathy</a></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/28880414">Levodopa treatment and dendritic spine pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishijima H,
|
||
Ueno T,
|
||
Funamizu Y,
|
||
Ueno S,
|
||
Tomiyama M</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2018 Jul;33(6):877-888.
|
||
Epub 2017 Sep 7
|
||
doi: 10.1002/mds.27172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28880414" target="_blank">28880414</a><a href="/pmc/articles/PMC6667906" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21257930">Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hegde AN,
|
||
Mohan S,
|
||
Lath N,
|
||
Lim CC</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2011 Jan-Feb;31(1):5-30.
|
||
doi: 10.1148/rg.311105041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21257930" target="_blank">21257930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7842626">Management of thalamic-basal ganglia and brain-stem vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis AI,
|
||
Tew JM Jr</span><br />
|
||
<span class="medgenPMjournal">Clin Neurosurg</span>
|
||
1994;41:83-111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7842626" target="_blank">7842626</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20basal%20ganglia%20morphology)%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 (67)</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/34620070">Tremor and Rigidity in Patients with Parkinson's Disease: Emphasis on Epidemiology, Pathophysiology and Contributing Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar S,
|
||
Goyal L,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
|
||
2022;21(7):596-609.
|
||
doi: 10.2174/1871527320666211006142100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34620070" target="_blank">34620070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30237473">Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balint B,
|
||
Mencacci NE,
|
||
Valente EM,
|
||
Pisani A,
|
||
Rothwell J,
|
||
Jankovic J,
|
||
Vidailhet M,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Sep 20;4(1):25.
|
||
doi: 10.1038/s41572-018-0023-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30237473" target="_blank">30237473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
|
||
Danek A,
|
||
Walker RH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Oct 25;6:68.
|
||
doi: 10.1186/1750-1172-6-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2479133">The functional anatomy of basal ganglia disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albin RL,
|
||
Young AB,
|
||
Penney JB</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
1989 Oct;12(10):366-75.
|
||
doi: 10.1016/0166-2236(89)90074-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2479133" target="_blank">2479133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20basal%20ganglia%20morphology%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 (1790)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34620070">Tremor and Rigidity in Patients with Parkinson's Disease: Emphasis on Epidemiology, Pathophysiology and Contributing Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar S,
|
||
Goyal L,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
|
||
2022;21(7):596-609.
|
||
doi: 10.2174/1871527320666211006142100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34620070" target="_blank">34620070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30237473">Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balint B,
|
||
Mencacci NE,
|
||
Valente EM,
|
||
Pisani A,
|
||
Rothwell J,
|
||
Jankovic J,
|
||
Vidailhet M,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Sep 20;4(1):25.
|
||
doi: 10.1038/s41572-018-0023-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30237473" target="_blank">30237473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20974376">Central nervous system infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aiken AH</span><br />
|
||
<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
2010 Nov;20(4):557-80.
|
||
doi: 10.1016/j.nic.2010.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20974376" target="_blank">20974376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20692506">Transcranial sonography in Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krogias C,
|
||
Eyding J,
|
||
Postert T</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2010;90:237-57.
|
||
doi: 10.1016/S0074-7742(10)90017-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20692506" target="_blank">20692506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11256682">Neuroimaging in bipolar disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strakowski SM,
|
||
DelBello MP,
|
||
Adler C,
|
||
Cecil DM,
|
||
Sax KW</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2000 Sep;2(3 Pt 1):148-64.
|
||
doi: 10.1034/j.1399-5618.2000.020302.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11256682" target="_blank">11256682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20basal%20ganglia%20morphology%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 (1945)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33572198">The Role of the Thalamus in Post-Traumatic Stress Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshii T</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Feb 9;22(4)
|
||
doi: 10.3390/ijms22041730.
|
||
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Valente EM,
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<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
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<div class="nl"><a target="_blank" href="/pubmed/21089737">Neonatal stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ramenghi LA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20basal%20ganglia%20morphology%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 (854)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29643480">The basal ganglia and the cerebellum: nodes in an integrated network.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20basal%20ganglia%20morphology%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 (1426)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35785410">Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings.</a></div>
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Tax CMW,
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Jones DK,
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Epub 2022 Jul 22
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<div class="nl"><a target="_blank" href="/pubmed/34742774">Aggression in borderline personality disorder: A systematic review of neuroimaging studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chu J,
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Zheng K,
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<span class="bold">PMID: </span><a href="/pubmed/34742774" target="_blank">34742774</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34736998">Resting-state fMRI in depressive and (hypo)manic mood states in bipolar disorders: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Claeys EHI,
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Mantingh T,
|
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Morrens M,
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Yalin N,
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Stokes PRA</span><br />
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<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
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2022 Mar 8;113:110465.
|
||
Epub 2021 Nov 2
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||
doi: 10.1016/j.pnpbp.2021.110465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34736998" target="_blank">34736998</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30691661">Tumefactive Virchow-Robin spaces.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kwee RM,
|
||
Kwee TC</span><br />
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<span class="medgenPMjournal">Eur J Radiol</span>
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2019 Feb;111:21-33.
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Epub 2018 Dec 13
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doi: 10.1016/j.ejrad.2018.12.011.
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<span class="bold">PMID: </span><a href="/pubmed/30691661" target="_blank">30691661</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/29536563">Systematic review with meta-analysis: neuroimaging in hepatitis C chronic infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oriolo G,
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Egmond E,
|
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Mariño Z,
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Cavero M,
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Navines R,
|
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Zamarrenho L,
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Solà R,
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Pujol J,
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Bargallo N,
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Forns X,
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Martin-Santos R</span><br />
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<span class="medgenPMjournal">Aliment Pharmacol Ther</span>
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2018 May;47(9):1238-1252.
|
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Epub 2018 Mar 14
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doi: 10.1111/apt.14594.
|
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<span class="bold">PMID: </span><a href="/pubmed/29536563" target="_blank">29536563</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20basal%20ganglia%20morphology%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 (22)</a></div></div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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