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<!--
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UID=867758
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ConceptID=C4022148
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal dentate nucleus morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867758</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.">C4022148</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 dentate nucleus</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:0100321">HP:0100321</a></td></tr>
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<div class="portlet_content ln">An abnormality of the dentate nucleus. [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 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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal dentate nucleus 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/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/400925" ref="tree=MeSH" title="MedGen record for Abnormal cerebellum morphology">Abnormal cerebellum morphology</a></span><ul><li><span class="matched_ds">Abnormal dentate nucleus morphology</span><ul><li><span class="TLline"><a href="/medgen/341848" ref="tree=MeSH" title="MedGen record for Atrophy of the dentate nucleus">Atrophy of the dentate nucleus</a></span></li><li><span class="TLline"><a href="/medgen/395215" ref="tree=MeSH" title="MedGen record for Cerebellar dentate nucleus calcification">Cerebellar dentate nucleus calcification</a></span></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">
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||
<div class="divPopper rprt" id="rdis_116041"><div><strong>Cholestanol storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116041</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.">C0238052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78724"><div><strong>Alexander disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78724</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:">C0270726</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78724">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794187"><div><strong>Neurodevelopmental disorder with hypotonia and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794187</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.">C5561977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794189"><div><strong>Neurodevelopmental disorder with seizures and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794189</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.">C5561979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794189">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alexander disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestanol storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures and brain abnormalities</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/26444039">Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poretti A,
|
||
Wolf NI,
|
||
Boltshauser E</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2015 Dec;46(6):359-70.
|
||
Epub 2015 Oct 7
|
||
doi: 10.1055/s-0035-1564620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26444039" target="_blank">26444039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22915085">Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horton LC,
|
||
Frosch MP,
|
||
Vangel MG,
|
||
Weigel-DiFranco C,
|
||
Berson EL,
|
||
Schmahmann JD</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2013 Apr;12(2):176-93.
|
||
doi: 10.1007/s12311-012-0412-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22915085" target="_blank">22915085</a><a href="/pmc/articles/PMC3562565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22331178">Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juric-Sekhar G,
|
||
Adkins J,
|
||
Doherty D,
|
||
Hevner RF</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2012 May;123(5):695-709.
|
||
Epub 2012 Feb 14
|
||
doi: 10.1007/s00401-012-0951-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22331178" target="_blank">22331178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20dentate%20nucleus%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 (4)</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/37793403">Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro JTS,
|
||
Saab CL,
|
||
Souto MPA,
|
||
Ortolam JG,
|
||
Steiner CE,
|
||
Rezende TJR,
|
||
Reis F</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2023 Sep;81(9):809-815.
|
||
Epub 2023 Oct 4
|
||
doi: 10.1055/s-0043-1772601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37793403" target="_blank">37793403</a><a href="/pmc/articles/PMC10550349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34954057">Rhomboencephalosynapsis: Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fouda MA,
|
||
Kim TY,
|
||
Cohen AR</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Mar;159:48-53.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.wneu.2021.12.062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34954057" target="_blank">34954057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14735807">Ohtahara syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karunanayake MC,
|
||
Perera BJ</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2003 Sep;48(3):89-90.
|
||
doi: 10.4038/cmj.v48i3.3354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14735807" target="_blank">14735807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9689620">Cerebellar involvement in metabolic disorders: a pattern-recognition approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinlin M,
|
||
Blaser S,
|
||
Boltshauser E</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
1998 Jun;40(6):347-54.
|
||
doi: 10.1007/s002340050597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9689620" target="_blank">9689620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2133406">Cerebellar mutism after posterior fossa surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietze DD Jr,
|
||
Mickle JP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
1990-1991;16(1):25-31; discussion 31.
|
||
doi: 10.1159/000120499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2133406" target="_blank">2133406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20dentate%20nucleus%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 (165)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34954057">Rhomboencephalosynapsis: Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fouda MA,
|
||
Kim TY,
|
||
Cohen AR</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Mar;159:48-53.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.wneu.2021.12.062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34954057" target="_blank">34954057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622386">Respiratory chain deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delonlay P,
|
||
Rötig A,
|
||
Sarnat HB</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1651-66.
|
||
doi: 10.1016/B978-0-444-59565-2.00033-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622386" target="_blank">23622386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16607507">Gomez-Lopez-Hernandez syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whetsell W,
|
||
Saigal G,
|
||
Godinho S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2006 Jun;36(6):552-4.
|
||
Epub 2006 Apr 11
|
||
doi: 10.1007/s00247-006-0150-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16607507" target="_blank">16607507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14735807">Ohtahara syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karunanayake MC,
|
||
Perera BJ</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2003 Sep;48(3):89-90.
|
||
doi: 10.4038/cmj.v48i3.3354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14735807" target="_blank">14735807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1950929">MR imaging of rhombencephalosynapsis: report of three cases and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Truwit CL,
|
||
Barkovich AJ,
|
||
Shanahan R,
|
||
Maroldo TV</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1991 Sep-Oct;12(5):957-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1950929" target="_blank">1950929</a><a href="/pmc/articles/PMC8333516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20dentate%20nucleus%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 (199)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39215828">Histopathologic correlates of opioid-associated injury in CHANTER syndrome: first report of a post-mortem examination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwetye KE,
|
||
Nair LR,
|
||
Boyle J,
|
||
Barash JA</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2024 Aug 31;148(1):33.
|
||
doi: 10.1007/s00401-024-02797-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39215828" target="_blank">39215828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23944301">A pilot study of focused ultrasound thalamotomy for essential tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elias WJ,
|
||
Huss D,
|
||
Voss T,
|
||
Loomba J,
|
||
Khaled M,
|
||
Zadicario E,
|
||
Frysinger RC,
|
||
Sperling SA,
|
||
Wylie S,
|
||
Monteith SJ,
|
||
Druzgal J,
|
||
Shah BB,
|
||
Harrison M,
|
||
Wintermark M</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 15;369(7):640-8.
|
||
doi: 10.1056/NEJMoa1300962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23944301" target="_blank">23944301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14735807">Ohtahara syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karunanayake MC,
|
||
Perera BJ</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2003 Sep;48(3):89-90.
|
||
doi: 10.4038/cmj.v48i3.3354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14735807" target="_blank">14735807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9100317">Linking etiologies in humans and animal models: studies of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodier PM,
|
||
Ingram JL,
|
||
Tisdale B,
|
||
Croog VJ</span><br />
|
||
<span class="medgenPMjournal">Reprod Toxicol</span>
|
||
1997 Mar-Jun;11(2-3):417-22.
|
||
doi: 10.1016/s0890-6238(97)80001-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9100317" target="_blank">9100317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3484855">Palatal myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lapresle J</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1986;43:265-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3484855" target="_blank">3484855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20dentate%20nucleus%20morphology%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 (47)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30328501">Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perucca G,
|
||
Soares BP,
|
||
Staglianò S,
|
||
Davison J,
|
||
Chakrapani A,
|
||
D'Arco F</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2018 Dec;60(12):1353-1356.
|
||
Epub 2018 Oct 17
|
||
doi: 10.1007/s00234-018-2116-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30328501" target="_blank">30328501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25586637">Heat stroke: typical MRI and (1)H-MRS features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Zhang XY,
|
||
Zou ZM,
|
||
Wang B,
|
||
Xia JK</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2015 May-Jun;39(3):504-5.
|
||
Epub 2014 Dec 20
|
||
doi: 10.1016/j.clinimag.2014.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25586637" target="_blank">25586637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14735807">Ohtahara syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karunanayake MC,
|
||
Perera BJ</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2003 Sep;48(3):89-90.
|
||
doi: 10.4038/cmj.v48i3.3354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14735807" target="_blank">14735807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9100317">Linking etiologies in humans and animal models: studies of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodier PM,
|
||
Ingram JL,
|
||
Tisdale B,
|
||
Croog VJ</span><br />
|
||
<span class="medgenPMjournal">Reprod Toxicol</span>
|
||
1997 Mar-Jun;11(2-3):417-22.
|
||
doi: 10.1016/s0890-6238(97)80001-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9100317" target="_blank">9100317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2133406">Cerebellar mutism after posterior fossa surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietze DD Jr,
|
||
Mickle JP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
1990-1991;16(1):25-31; discussion 31.
|
||
doi: 10.1159/000120499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2133406" target="_blank">2133406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20dentate%20nucleus%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 (110)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29643480">The basal ganglia and the cerebellum: nodes in an integrated network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bostan AC,
|
||
Strick PL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurosci</span>
|
||
2018 Jun;19(6):338-350.
|
||
doi: 10.1038/s41583-018-0002-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29643480" target="_blank">29643480</a><a href="/pmc/articles/PMC6503669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23944301">A pilot study of focused ultrasound thalamotomy for essential tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elias WJ,
|
||
Huss D,
|
||
Voss T,
|
||
Loomba J,
|
||
Khaled M,
|
||
Zadicario E,
|
||
Frysinger RC,
|
||
Sperling SA,
|
||
Wylie S,
|
||
Monteith SJ,
|
||
Druzgal J,
|
||
Shah BB,
|
||
Harrison M,
|
||
Wintermark M</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 15;369(7):640-8.
|
||
doi: 10.1056/NEJMoa1300962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23944301" target="_blank">23944301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9100317">Linking etiologies in humans and animal models: studies of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodier PM,
|
||
Ingram JL,
|
||
Tisdale B,
|
||
Croog VJ</span><br />
|
||
<span class="medgenPMjournal">Reprod Toxicol</span>
|
||
1997 Mar-Jun;11(2-3):417-22.
|
||
doi: 10.1016/s0890-6238(97)80001-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9100317" target="_blank">9100317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4000488">Histoanatomic observations of the brain in early infantile autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bauman M,
|
||
Kemper TL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1985 Jun;35(6):866-74.
|
||
doi: 10.1212/wnl.35.6.866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4000488" target="_blank">4000488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/844667">Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fierro M,
|
||
Martinez AJ,
|
||
Harbison JW,
|
||
Hay SH</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1977 Feb;19(1):57-62.
|
||
doi: 10.1111/j.1469-8749.1977.tb08021.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/844667" target="_blank">844667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20dentate%20nucleus%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 (141)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37468768">The Guillain-Mollaret triangle: a key player in motor coordination and control with implications for neurological disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ogut E,
|
||
Armagan K,
|
||
Tufekci D</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Rev</span>
|
||
2023 Jul 20;46(1):181.
|
||
doi: 10.1007/s10143-023-02086-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468768" target="_blank">37468768</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/32520161">Severe Cerebellar Degeneration and Chiari I Malformation - Speculative pathophysiology based on a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Joaquim AF</span><br />
|
||
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
|
||
2020 Mar;66(3):375-379.
|
||
doi: 10.1590/1806-9282.66.3.375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32520161" target="_blank">32520161</a></div>
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