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1214 lines
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<!--
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UID=325386
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ConceptID=C1838320
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperorality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325386</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.">C1838320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Hyperoralia</td></tr>
|
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<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:0000710">HP:0000710</a></td></tr>
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<div class="portlet_content ln">Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. [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">Hyperorality</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/14048" ref="tree=MeSH" title="MedGen record for Atypical behavior">Atypical behavior</a></span><ul><li><span class="TLline"><a href="/medgen/1842106" ref="tree=MeSH" title="MedGen record for Sensory behavioral abnormality">Sensory behavioral abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1814422" ref="tree=MeSH" title="MedGen record for Sensory seeking">Sensory seeking</a></span><ul><li><span class="TLline"><a href="/medgen/1842082" ref="tree=MeSH" title="MedGen record for Tactile sensory seeking">Tactile sensory seeking</a></span><ul><li><span class="matched_ds">Hyperorality</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></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_116020"><div><strong>Pick disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116020</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.">C0236642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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.">C0338451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318833"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</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:">C1833296</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375285"><div><strong>GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375285</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.">C1843792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive nonfluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome (CBS). A broad range of clinical features both within and between families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375285">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339812"><div><strong>Spongiform encephalopathy with neuropsychiatric features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339812</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.">C1847650</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/339812">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339994"><div><strong>Phelan-McDermid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339994</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.">C1853490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phelan-McDermid syndrome-SHANK3 related (PMS-SHANK3 related) is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate-to-profound intellectual disability. Other features include relatively large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguish PMS-SHANK3 related from other autosomal chromosome disorders. Neurobehavioral characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. Some individuals experience regression / loss of skills, epilepsy, ataxic/abnormal gait, and sleep disturbance (difficulty falling asleep and staying asleep, hypersomnia, and parasomnias). Less commonly, affected individuals may have strabismus, vision problems (hyperopia or myopia), cardiac anomalies, renal anomalies, and lymphedema. Those who have PMS-SHANK3 related due to a ring chromosome 22 also have a high risk of developing features of NF2-related schwannomatosis (NF2).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339994">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357007"><div><strong>Perry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357007</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.">C1868594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824048"><div><strong>Combined oxidative phosphorylation deficiency 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824048</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.">C5774275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824048">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div><div class="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_357007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perry syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phelan-McDermid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pick disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spongiform encephalopathy with neuropsychiatric features</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/35349636">Proposed research criteria for prodromal behavioural variant frontotemporal dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barker MS,
|
||
Gottesman RT,
|
||
Manoochehri M,
|
||
Chapman S,
|
||
Appleby BS,
|
||
Brushaber D,
|
||
Devick KL,
|
||
Dickerson BC,
|
||
Domoto-Reilly K,
|
||
Fields JA,
|
||
Forsberg LK,
|
||
Galasko DR,
|
||
Ghoshal N,
|
||
Goldman J,
|
||
Graff-Radford NR,
|
||
Grossman M,
|
||
Heuer HW,
|
||
Hsiung GY,
|
||
Knopman DS,
|
||
Kornak J,
|
||
Litvan I,
|
||
Mackenzie IR,
|
||
Masdeu JC,
|
||
Mendez MF,
|
||
Pascual B,
|
||
Staffaroni AM,
|
||
Tartaglia MC,
|
||
Boeve BF,
|
||
Boxer AL,
|
||
Rosen HJ,
|
||
Rankin KP,
|
||
Cosentino S,
|
||
Rascovsky K,
|
||
Huey ED;
|
||
ALLFTD Consortium</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 29;145(3):1079-1097.
|
||
doi: 10.1093/brain/awab365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35349636" target="_blank">35349636</a><a href="/pmc/articles/PMC9050566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22847063">Diagnosis and management of behavioral issues in frontotemporal dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoochehri M,
|
||
Huey ED</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2012 Oct;12(5):528-36.
|
||
doi: 10.1007/s11910-012-0302-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22847063" target="_blank">22847063</a><a href="/pmc/articles/PMC3443960" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21810890">Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rascovsky K,
|
||
Hodges JR,
|
||
Knopman D,
|
||
Mendez MF,
|
||
Kramer JH,
|
||
Neuhaus J,
|
||
van Swieten JC,
|
||
Seelaar H,
|
||
Dopper EG,
|
||
Onyike CU,
|
||
Hillis AE,
|
||
Josephs KA,
|
||
Boeve BF,
|
||
Kertesz A,
|
||
Seeley WW,
|
||
Rankin KP,
|
||
Johnson JK,
|
||
Gorno-Tempini ML,
|
||
Rosen H,
|
||
Prioleau-Latham CE,
|
||
Lee A,
|
||
Kipps CM,
|
||
Lillo P,
|
||
Piguet O,
|
||
Rohrer JD,
|
||
Rossor MN,
|
||
Warren JD,
|
||
Fox NC,
|
||
Galasko D,
|
||
Salmon DP,
|
||
Black SE,
|
||
Mesulam M,
|
||
Weintraub S,
|
||
Dickerson BC,
|
||
Diehl-Schmid J,
|
||
Pasquier F,
|
||
Deramecourt V,
|
||
Lebert F,
|
||
Pijnenburg Y,
|
||
Chow TW,
|
||
Manes F,
|
||
Grafman J,
|
||
Cappa SF,
|
||
Freedman M,
|
||
Grossman M,
|
||
Miller BL</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2011 Sep;134(Pt 9):2456-77.
|
||
Epub 2011 Aug 2
|
||
doi: 10.1093/brain/awr179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21810890" target="_blank">21810890</a><a href="/pmc/articles/PMC3170532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperorality%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 (10)</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/39375835">Clinical and imaging correlates of hyperorality in syndromes associated with frontotemporal lobar degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altomare D,
|
||
Bracca V,
|
||
Premi E,
|
||
Micheli A,
|
||
Cotelli MS,
|
||
Gasparotti R,
|
||
Alberici A,
|
||
Borroni B</span><br />
|
||
<span class="medgenPMjournal">Psychiatry Clin Neurosci</span>
|
||
2024 Dec;78(12):818-825.
|
||
Epub 2024 Oct 7
|
||
doi: 10.1111/pcn.13751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39375835" target="_blank">39375835</a><a href="/pmc/articles/PMC11612539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35349636">Proposed research criteria for prodromal behavioural variant frontotemporal dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barker MS,
|
||
Gottesman RT,
|
||
Manoochehri M,
|
||
Chapman S,
|
||
Appleby BS,
|
||
Brushaber D,
|
||
Devick KL,
|
||
Dickerson BC,
|
||
Domoto-Reilly K,
|
||
Fields JA,
|
||
Forsberg LK,
|
||
Galasko DR,
|
||
Ghoshal N,
|
||
Goldman J,
|
||
Graff-Radford NR,
|
||
Grossman M,
|
||
Heuer HW,
|
||
Hsiung GY,
|
||
Knopman DS,
|
||
Kornak J,
|
||
Litvan I,
|
||
Mackenzie IR,
|
||
Masdeu JC,
|
||
Mendez MF,
|
||
Pascual B,
|
||
Staffaroni AM,
|
||
Tartaglia MC,
|
||
Boeve BF,
|
||
Boxer AL,
|
||
Rosen HJ,
|
||
Rankin KP,
|
||
Cosentino S,
|
||
Rascovsky K,
|
||
Huey ED;
|
||
ALLFTD Consortium</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 29;145(3):1079-1097.
|
||
doi: 10.1093/brain/awab365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35349636" target="_blank">35349636</a><a href="/pmc/articles/PMC9050566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32281118">Frontotemporal Dementia: Correlations Between Psychiatric Symptoms and Pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarioni M,
|
||
Gami-Patel P,
|
||
Timar Y,
|
||
Seelaar H,
|
||
van Swieten JC,
|
||
Rozemuller AJM,
|
||
Dols A,
|
||
Scarpini E,
|
||
Galimberti D;
|
||
Netherlands Brain Bank,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/25059437">What is frontotemporal dementia?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kurz A,
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Ellis K,
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Lautenschlager NT</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Pasquier F,
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Lebert F,
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Lavenu I,
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<div class="nl"><a target="_blank" href="/pubmed/25059437">What is frontotemporal dementia?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25059437">What is frontotemporal dementia?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22054627">A case of utilization behavior and hyperorality following bilateral anterior cerebral artery infarct partially responsive to carbamazepine: can both behaviors be attributed to lesions in different frontal lobe circuits?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel DR,
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Lamm K</span><br />
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<span class="medgenPMjournal">Psychosomatics</span>
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Epub 2011 Sep 28
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doi: 10.1016/j.psym.2011.01.040.
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<span class="bold">PMID: </span><a href="/pubmed/22054627" target="_blank">22054627</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10436334">The clinical picture of frontotemporal dementia: diagnosis and follow-up.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pasquier F,
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Lebert F,
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Lavenu I,
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Guillaume B</span><br />
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1999;10 Suppl 1:10-4.
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doi: 10.1159/000051206.
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<span class="bold">PMID: </span><a href="/pubmed/10436334" target="_blank">10436334</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperorality%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32281118">Frontotemporal Dementia: Correlations Between Psychiatric Symptoms and Pathology.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27827379">Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26141491">The behavioural/dysexecutive variant of Alzheimer's disease: clinical, neuroimaging and pathological features.</a></div>
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Pijnenburg YA,
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Cohn-Sheehy BI,
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Domoto-Reilly K,
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||
McGinnis S,
|
||
Miller BL,
|
||
Kramer JH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2013 May 21;80(21):1973-7.
|
||
Epub 2013 May 1
|
||
doi: 10.1212/WNL.0b013e318293e368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23635967" target="_blank">23635967</a><a href="/pmc/articles/PMC3716343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperorality%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 (20)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32132398">Effectiveness of Pharmacological Interventions for Symptoms of Behavioral Variant Frontotemporal Dementia: A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Trieu C,
|
||
Gossink F,
|
||
Stek ML,
|
||
Scheltens P,
|
||
Pijnenburg YAL,
|
||
Dols A</span><br />
|
||
<span class="medgenPMjournal">Cogn Behav Neurol</span>
|
||
2020 Mar;33(1):1-15.
|
||
doi: 10.1097/WNN.0000000000000217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132398" target="_blank">32132398</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/30376788">Klüver-Bucy Syndrome Following Traumatic Brain Injury: A Systematic Synthesis and Review of Pharmacological Treatment From Cases in Adolescents and Adults.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Clay FJ,
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Kuriakose A,
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Lesche D,
|
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Hicks AJ,
|
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Zaman H,
|
||
Azizi E,
|
||
Ponsford JL,
|
||
Jayaram M,
|
||
Hopwood M</span><br />
|
||
<span class="medgenPMjournal">J Neuropsychiatry Clin Neurosci</span>
|
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2019 Winter;31(1):6-16.
|
||
Epub 2018 Oct 31
|
||
doi: 10.1176/appi.neuropsych.18050112.
|
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<span class="bold">PMID: </span><a href="/pubmed/30376788" target="_blank">30376788</a></div>
|
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