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<!--
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UID=346745
|
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ConceptID=C1858116
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Caudate atrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346745</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.">C1858116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Atrophy of the caudate</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002340">HP:0002340</a></td></tr>
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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">Caudate atrophy</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/1643639" ref="tree=MeSH" title="MedGen record for Brain atrophy">Brain atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/870452" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration affecting the cerebrum">Atrophy/Degeneration affecting the cerebrum</a></span><ul><li><span class="TLline"><a href="/medgen/870449" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration involving the caudate nucleus">Atrophy/Degeneration involving the caudate nucleus</a></span><ul><li><span class="matched_ds">Caudate atrophy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_98277"><div><strong>Chorea-acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98277</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:">C0393576</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333031"><div><strong>CODAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333031</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.">C1838180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347622"><div><strong>Huntington disease-like 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347622</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.">C1858114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347622">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816301"><div><strong>Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816301</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.">C3809971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1379711"><div><strong>Lopes-Maciel-Rodan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379711</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.">C4479491</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/1379711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632999"><div><strong>Amyotrophic lateral sclerosis, susceptibility to, 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632999</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.">C4693523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons (Brenner et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632999">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648386"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648386</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.">C4721893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1.. The latent stage is characterized by normal early development. 2.. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3.. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social issues. 4.. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648386">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648374"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648374</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.">C4748657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648374">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648351"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648351</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.">C4748785</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/1648351">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis, susceptibility to, 24</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea-acanthocytosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CODAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Huntington disease-like 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lopes-Maciel-Rodan syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</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/33167837">APOE Genotypes and Brain Imaging Classes in Normal Cognition, Mild Cognitive Impairment, and Alzheimer's Disease: A Longitudinal Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camarda C,
|
||
Torelli P,
|
||
Pipia C,
|
||
Sottile G,
|
||
Cilluffo G,
|
||
Camarda R</span><br />
|
||
<span class="medgenPMjournal">Curr Alzheimer Res</span>
|
||
2020;17(8):766-780.
|
||
doi: 10.2174/1567205017666201109093314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33167837" target="_blank">33167837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2140710">CT brainstem abnormalities in the differential diagnosis of Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masucci EF,
|
||
Borts FT,
|
||
Kurtzke JF</span><br />
|
||
<span class="medgenPMjournal">Comput Med Imaging Graph</span>
|
||
1990 May-Jun;14(3):205-12.
|
||
doi: 10.1016/0895-6111(90)90062-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2140710" target="_blank">2140710</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22caudate%20atrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/36197324">Individual differences in brain aging: heterogeneity in cortico-hippocampal but not caudate atrophy rates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyberg L,
|
||
Andersson M,
|
||
Lundquist A,
|
||
Baaré WFC,
|
||
Bartrés-Faz D,
|
||
Bertram L,
|
||
Boraxbekk CJ,
|
||
Brandmaier AM,
|
||
Demnitz N,
|
||
Drevon CA,
|
||
Duezel S,
|
||
Ebmeier KP,
|
||
Ghisletta P,
|
||
Henson R,
|
||
Jensen DEA,
|
||
Kievit RA,
|
||
Knights E,
|
||
Kühn S,
|
||
Lindenberger U,
|
||
Plachti A,
|
||
Pudas S,
|
||
Roe JM,
|
||
Madsen KS,
|
||
Solé-Padullés C,
|
||
Sommerer Y,
|
||
Suri S,
|
||
Zsoldos E,
|
||
Fjell AM,
|
||
Walhovd KB</span><br />
|
||
<span class="medgenPMjournal">Cereb Cortex</span>
|
||
2023 Apr 25;33(9):5075-5081.
|
||
doi: 10.1093/cercor/bhac400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36197324" target="_blank">36197324</a><a href="/pmc/articles/PMC10151879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36173150">Predictive Modeling of Huntington's Disease Unfolds Thalamic and Caudate Atrophy Dissociation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro E,
|
||
Polosecki P,
|
||
Pustina D,
|
||
Wood A,
|
||
Sampaio C,
|
||
Cecchi GA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Dec;37(12):2407-2416.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1002/mds.29219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36173150" target="_blank">36173150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10631644">Correlation between triplet repeat expansion and computed tomography measures of caudate nuclei atrophy in Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Culjkovic B,
|
||
Stojkovic O,
|
||
Vojvodic N,
|
||
Svetel M,
|
||
Rakic L,
|
||
Romac S,
|
||
Kostic V</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
1999 Nov;246(11):1090-3.
|
||
doi: 10.1007/s004150050518.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10631644" target="_blank">10631644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8290045">Cerebral involvement in McLeod syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danek A,
|
||
Uttner I,
|
||
Vogl T,
|
||
Tatsch K,
|
||
Witt TN</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1994 Jan;44(1):117-20.
|
||
doi: 10.1212/wnl.44.1.117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8290045" target="_blank">8290045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2960430">Cerebral glucose and dopa metabolism in movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin WR,
|
||
Hayden MR</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
1987 Aug;14(3 Suppl):448-51.
|
||
doi: 10.1017/s0317167100037896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2960430" target="_blank">2960430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Caudate%20atrophy%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 (69)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38290845">Chorea-acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashid S,
|
||
Malek N,
|
||
Krommyda M</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2024 May 29;24(3):223-225.
|
||
doi: 10.1136/pn-2023-003981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38290845" target="_blank">38290845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315040">Changing perspectives on frontotemporal dementia: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snowden JS</span><br />
|
||
<span class="medgenPMjournal">J Neuropsychol</span>
|
||
2023 Jun;17(2):211-234.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1111/jnp.12297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315040" target="_blank">36315040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36173150">Predictive Modeling of Huntington's Disease Unfolds Thalamic and Caudate Atrophy Dissociation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro E,
|
||
Polosecki P,
|
||
Pustina D,
|
||
Wood A,
|
||
Sampaio C,
|
||
Cecchi GA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Dec;37(12):2407-2416.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1002/mds.29219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36173150" target="_blank">36173150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15260394">HIV-associated dementia and caudate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta SR,
|
||
Muthukrishnan J,
|
||
Varadarajulu R</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2003 Nov;51:1078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15260394" target="_blank">15260394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14651141">HIV-associated dementia and caudate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta SR,
|
||
Muthukrishnan J,
|
||
Varadarajulu R</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2003 Aug;51:790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14651141" target="_blank">14651141</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Caudate%20atrophy%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 (57)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39804569">Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease: A Phase II Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mochel F,
|
||
Méneret A,
|
||
Adanyeguh IM,
|
||
Giron C,
|
||
Hainque E,
|
||
Luton MP,
|
||
Atencio M,
|
||
Debs R,
|
||
Jacobs M,
|
||
Veldkamp FCM,
|
||
Barbier M,
|
||
Coppen EM,
|
||
van der Zwaan KF,
|
||
Diallo A,
|
||
Ottolenghi C,
|
||
Vicaut E,
|
||
Roos RA,
|
||
Durr A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2025 Jan 28;104(2):e210194.
|
||
Epub 2024 Dec 30
|
||
doi: 10.1212/WNL.0000000000210194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39804569" target="_blank">39804569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28906031">Design optimization for clinical trials in early-stage manifest Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frost C,
|
||
Mulick A,
|
||
Scahill RI,
|
||
Owen G,
|
||
Aylward E,
|
||
Leavitt BR,
|
||
Durr A,
|
||
Roos RAC,
|
||
Borowsky B,
|
||
Stout JC,
|
||
Reilmann R,
|
||
Langbehn DR,
|
||
Tabrizi SJ,
|
||
Sampaio C;
|
||
TRACK-HD Investigators</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2017 Nov;32(11):1610-1619.
|
||
Epub 2017 Sep 14
|
||
doi: 10.1002/mds.27122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28906031" target="_blank">28906031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25968325">Apathy, ventriculomegaly and neurocognitive improvement following shunt surgery in normal pressure hydrocephalus.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Peterson KA,
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Savulich G,
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|
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Epub 2015 May 12
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|
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<span class="bold">PMID: </span><a href="/pubmed/25968325" target="_blank">25968325</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/25669748">Short-interval observational data to inform clinical trial design in Huntington's disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hobbs NZ,
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Farmer RE,
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Rees EM,
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Cole JH,
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<div class="nl"><a target="_blank" href="/pubmed/22269799">Independent effects of HIV, aging, and HAART on brain volumetric measures.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ances BM,
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Ortega M,
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Vaida F,
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<span class="bold">PMID: </span><a href="/pubmed/22269799" target="_blank">22269799</a><a href="/pmc/articles/PMC3302928" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Caudate%20atrophy%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36939721">Epilepsia partialis continua and unilateral cortical-subcortical FLAIR-hyperintense lesion in Rasmussen's encephalitis: Is it diagnostic?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jagtap SA,
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Deshmukh Y,
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Joshi A,
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Patil S,
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Kurwale N,
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Nilegaonkar S</span><br />
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<span class="medgenPMjournal">Epileptic Disord</span>
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2023 Jun;25(3):321-330.
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Epub 2023 Apr 20
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doi: 10.1002/epd2.20033.
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<span class="bold">PMID: </span><a href="/pubmed/36939721" target="_blank">36939721</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36315040">Changing perspectives on frontotemporal dementia: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snowden JS</span><br />
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<span class="medgenPMjournal">J Neuropsychol</span>
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2023 Jun;17(2):211-234.
|
||
Epub 2022 Oct 31
|
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doi: 10.1111/jnp.12297.
|
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<span class="bold">PMID: </span><a href="/pubmed/36315040" target="_blank">36315040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36173150">Predictive Modeling of Huntington's Disease Unfolds Thalamic and Caudate Atrophy Dissociation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro E,
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Polosecki P,
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Pustina D,
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Wood A,
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Sampaio C,
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Cecchi GA</span><br />
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<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Dec;37(12):2407-2416.
|
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Epub 2022 Sep 29
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||
doi: 10.1002/mds.29219.
|
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<span class="bold">PMID: </span><a href="/pubmed/36173150" target="_blank">36173150</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34792836">Basal ganglia atrophy-associated causal structural network degeneration in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li R,
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Zou T,
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Wang X,
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Wang H,
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Hu X,
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Xie F,
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Meng L,
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Chen H</span><br />
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2022 Feb 15;43(3):1145-1156.
|
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Epub 2021 Nov 18
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<span class="bold">PMID: </span><a href="/pubmed/34792836" target="_blank">34792836</a><a href="/pmc/articles/PMC8764481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/28660843">Rapidly progressive Fronto-temporal dementia (FTD) associated with Frontotemporal lobar degeneration (FTLD) in the presence of Fused in Sarcoma (FUS) protein: a rare, sporadic, and aggressive form of FTD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bradfield NI,
|
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McLean C,
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Drago J,
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Darby DG,
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Ames D</span><br />
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<span class="medgenPMjournal">Int Psychogeriatr</span>
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2017 Oct;29(10):1743-1746.
|
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Epub 2017 Jun 29
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|
||
<span class="bold">PMID: </span><a href="/pubmed/28660843" target="_blank">28660843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Caudate%20atrophy%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315040">Changing perspectives on frontotemporal dementia: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snowden JS</span><br />
|
||
<span class="medgenPMjournal">J Neuropsychol</span>
|
||
2023 Jun;17(2):211-234.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1111/jnp.12297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315040" target="_blank">36315040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36197324">Individual differences in brain aging: heterogeneity in cortico-hippocampal but not caudate atrophy rates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyberg L,
|
||
Andersson M,
|
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Lundquist A,
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Baaré WFC,
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Bartrés-Faz D,
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Bertram L,
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Boraxbekk CJ,
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Brandmaier AM,
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Demnitz N,
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Drevon CA,
|
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Duezel S,
|
||
Ebmeier KP,
|
||
Ghisletta P,
|
||
Henson R,
|
||
Jensen DEA,
|
||
Kievit RA,
|
||
Knights E,
|
||
Kühn S,
|
||
Lindenberger U,
|
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Plachti A,
|
||
Pudas S,
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Roe JM,
|
||
Madsen KS,
|
||
Solé-Padullés C,
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Sommerer Y,
|
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Suri S,
|
||
Zsoldos E,
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Fjell AM,
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Walhovd KB</span><br />
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<span class="medgenPMjournal">Cereb Cortex</span>
|
||
2023 Apr 25;33(9):5075-5081.
|
||
doi: 10.1093/cercor/bhac400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36197324" target="_blank">36197324</a><a href="/pmc/articles/PMC10151879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36173150">Predictive Modeling of Huntington's Disease Unfolds Thalamic and Caudate Atrophy Dissociation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro E,
|
||
Polosecki P,
|
||
Pustina D,
|
||
Wood A,
|
||
Sampaio C,
|
||
Cecchi GA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Dec;37(12):2407-2416.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1002/mds.29219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36173150" target="_blank">36173150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34792836">Basal ganglia atrophy-associated causal structural network degeneration in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li R,
|
||
Zou T,
|
||
Wang X,
|
||
Wang H,
|
||
Hu X,
|
||
Xie F,
|
||
Meng L,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">Hum Brain Mapp</span>
|
||
2022 Feb 15;43(3):1145-1156.
|
||
Epub 2021 Nov 18
|
||
doi: 10.1002/hbm.25715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34792836" target="_blank">34792836</a><a href="/pmc/articles/PMC8764481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20437538">Hippocampal, caudate, and ventricular changes in Parkinson's disease with and without dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apostolova LG,
|
||
Beyer M,
|
||
Green AE,
|
||
Hwang KS,
|
||
Morra JH,
|
||
Chou YY,
|
||
Avedissian C,
|
||
Aarsland D,
|
||
Janvin CC,
|
||
Larsen JP,
|
||
Cummings JL,
|
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Thompson PM</span><br />
|
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<span class="medgenPMjournal">Mov Disord</span>
|
||
2010 Apr 30;25(6):687-95.
|
||
doi: 10.1002/mds.22799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20437538" target="_blank">20437538</a><a href="/pmc/articles/PMC3068920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Caudate%20atrophy%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 (56)</a></div></div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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