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1080 lines
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<!--
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UID=4886
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||
ConceptID=C0017495
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gerstmann-Straussler-Scheinker syndrome<span class="h1sub">(GSD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4886</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.">C0017495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Amyloidosis cerebral with spongiform encephalopathy; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS; Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; Encephalopathy subacute spongiform Gerstmann-Straussler type; GERSTMANN-STRAUSSLER DISEASE; Gerstmann-Straussler-Scheinker Disease; GSD; PRION DEMENTIA; Spinocerebellar ataxia and plaque-like deposits; Spongiform encephalopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Gerstmann-Straussler-Scheinker syndrome (67155006); GSS - Gerstmann-Straussler-Scheinker syndrome (67155006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PRNP - ID: 5621 - NCBI Gene" href="/gene/5621" class="medgenPMinfo">PRNP</a> (20p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007656" target="_blank">MONDO:0007656</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/137440" target="_blank">137440</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=356">ORPHA356</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1229" target="_blank">Genetic Prion Disease</a></div><div>Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1229#prion.Summary" target="NBK1229">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.GeneReview_Scope" target="NBK1229">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Diagnosis" target="NBK1229">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Clinical_Characteristics" target="NBK1229">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Genetically_Related_Allelic_Disord" target="NBK1229">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Differential_Diagnosis" target="NBK1229">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Management" target="NBK1229">Management</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Genetic_Counseling" target="NBK1229">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Resources" target="NBK1229">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Molecular_Genetics" target="NBK1229">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Chapter_Notes" target="NBK1229">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.References" target="NBK1229">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Inga Zerr | Matthias Schmitz <a href="/books/NBK1229" target="NBK1229" title="NCBI Bookshelf: Genetic Prion Disease">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Gerstmann-Straussler disease (GSD) is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). GSD typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from CJD by earlier age at onset, longer disease duration, and prominent cerebellar ataxia (Masters et al., 1981).
|
||
On the basis of clinical and pathologic criteria, Hsiao et al. (1989) suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs). However, these distinctions may only underscore the phenotypic variability in presentation and progression of the disease (Panegyres et al., 2001).
|
||
PRNP-related amyloid angiopathy is usually not a feature of CJD, GSD, or FFI. However, PRNP-immunoreactive amyloid deposits within the walls of cerebral vessels have been observed in patients with truncating mutations in the PRNP gene. Data suggest that C-terminal-truncated PRNP proteins lacking the glycosylphosphatidylinositol (GPI) anchor required to attach the protein to the plasma membrane may readily form amyloid fibrils that result in cerebrovascular amyloid deposition (summary by Revesz et al., 2009). <a target="_blank" href="http://www.omim.org/entry/137440">http://www.omim.org/entry/137440</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years. <a target="_blank" href="https://medlineplus.gov/genetics/condition/prion-disease">https://medlineplus.gov/genetics/condition/prion-disease</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_324478"><div><strong>Lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324478</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.">C1836296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Weakness of the muscles of the legs.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/324478">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853198"><div><strong>Weight loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853198</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.">C1262477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Reduction of total body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853198">Feature record</a> | <a href="/medgen?term=%22Weight%20loss%22%5BClinical%20Features%5D%20OR%20853198%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
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||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8166"><div><strong>Apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8166</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.">C0003635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8166">Feature record</a> | <a href="/medgen?term=%22Apraxia%22%5BClinical%20Features%5D%20OR%208166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39273"><div><strong>Neurofibrillary tangles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39273</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.">C0085400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39273">Feature record</a> | <a href="/medgen?term=%22Neurofibrillary%20tangles%22%5BClinical%20Features%5D%20OR%2039273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</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.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66686"><div><strong>Perseverative thought</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66686</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.">C0233651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repetitive production of the same response to different commands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66686">Feature record</a> | <a href="/medgen?term=%22Perseverative%20thought%22%5BClinical%20Features%5D%20OR%2066686%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68579"><div><strong>Memory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68579</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.">C0233794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68579">Feature record</a> | <a href="/medgen?term=%22Memory%20impairment%22%5BClinical%20Features%5D%20OR%2068579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</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.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66817"><div><strong>Personality changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66817</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.">C0240735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal shift in patterns of thinking, acting, or feeling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66817">Feature record</a> | <a href="/medgen?term=%22Personality%20changes%22%5BClinical%20Features%5D%20OR%2066817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96535"><div><strong>Truncal ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96535</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.">C0427190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96535">Feature record</a> | <a href="/medgen?term=%22Truncal%20ataxia%22%5BClinical%20Features%5D%20OR%2096535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196692"><div><strong>Limb ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196692</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.">C0750937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of ataxia that affects movements of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196692">Feature record</a> | <a href="/medgen?term=%22Limb%20ataxia%22%5BClinical%20Features%5D%20OR%20196692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</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.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325176"><div><strong>Impaired smooth pursuit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325176</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.">C1837458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325176">Feature record</a> | <a href="/medgen?term=%22Impaired%20smooth%20pursuit%22%5BClinical%20Features%5D%20OR%20325176%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired smooth pursuit</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apraxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Memory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibrillary tangles</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perseverative thought</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Personality changes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal ataxia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weight loss</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679775[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826145">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=1826145">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826145" ref="ncbi_uid=1826145">V</a></span></span><span class="TLline"><a href="/medgen/1826145" ref="tree=GTR&ncbi_uid=1826145&link_uid=1826145" title="View MedGen record for 'Inherited prion disease'">Inherited prion disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206042[DISCUI]&test_type=Clinical" ref="ncbi_uid=104768">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104768" target="_blank" href="/omim/176640">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=104768">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104768" ref="ncbi_uid=104768">V</a></span></span><span class="TLline"><a href="/medgen/104768" ref="tree=GTR&ncbi_uid=104768&link_uid=104768" title="View MedGen record for 'Fatal familial insomnia'">Fatal familial insomnia</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017495[DISCUI]&test_type=Clinical" ref="ncbi_uid=4886">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4886" target="_blank" href="/omim/137440">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=4886">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4886" ref="ncbi_uid=4886">V</a></span></span><span class="TLline">Gerstmann-Straussler-Scheinker syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751254[DISCUI]&test_type=Clinical" ref="ncbi_uid=155837">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155837" target="_blank" href="/omim/123400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=155837">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155837" ref="ncbi_uid=155837">V</a></span></span><span class="TLline"><a href="/medgen/155837" ref="tree=GTR&ncbi_uid=155837&link_uid=155837" title="View MedGen record for 'Inherited Creutzfeldt-Jakob disease'">Inherited Creutzfeldt-Jakob disease</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/101195" ref="tree=MeSH" title="MedGen record for Degenerative Disease of Nervous System, Unspecified">Degenerative Disease of Nervous System, Unspecified</a></span><ul><li><span class="TLline"><a href="/medgen/155945" ref="tree=MeSH" title="MedGen record for Heredodegenerative Disorders, Nervous System">Heredodegenerative Disorders, Nervous System</a></span><ul><li><span class="matched_ds">Gerstmann-Straussler-Scheinker syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=809&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Gerstmann-Straussler-Scheinker syndrome</span> in Orphanet.</div></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/31795176">Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zerr I,
|
||
Villar-Piqué A,
|
||
Schmitz VE,
|
||
Poleggi A,
|
||
Pocchiari M,
|
||
Sánchez-Valle R,
|
||
Calero M,
|
||
Calero O,
|
||
Baldeiras I,
|
||
Santana I,
|
||
Kovacs GG,
|
||
Llorens F,
|
||
Schmitz M</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2019 Nov 28;9(12)
|
||
doi: 10.3390/biom9120800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31795176" target="_blank">31795176</a><a href="/pmc/articles/PMC6995564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7904034">Molecular genetic testing of a fetus at risk of Gerstmann-Sträussler-Scheinker syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown P,
|
||
Cervenáková L,
|
||
Goldfarb LG,
|
||
Gajdusek DC,
|
||
Haverkamp A,
|
||
Haverkamp C,
|
||
Horwitz J,
|
||
Creacy SD,
|
||
Bever RA,
|
||
Wexler P</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1994 Jan 15;343(8890):181-2.
|
||
doi: 10.1016/s0140-6736(94)90977-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7904034" target="_blank">7904034</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gerstmann-straussler-scheinker%20syndrome%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/37088611">Human prion diseases: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
|
||
Barrero-Hernández F,
|
||
Aliaga-Martínez L</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Jun 23;160(12):554-560.
|
||
Epub 2023 Apr 21
|
||
doi: 10.1016/j.medcli.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31533183">Prion Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldwin KJ,
|
||
Correll CM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2019 Aug;39(4):428-439.
|
||
Epub 2019 Sep 18
|
||
doi: 10.1055/s-0039-1687841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31533183" target="_blank">31533183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26633779">Prion Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geschwind MD</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2015 Dec;21(6 Neuroinfectious Disease):1612-38.
|
||
doi: 10.1212/CON.0000000000000251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26633779" target="_blank">26633779</a><a href="/pmc/articles/PMC4879966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26592824">Prions mediated neurodegenerative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang WJ,
|
||
Chen WW,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2015 Nov;19(21):4028-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26592824" target="_blank">26592824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20938044">The prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown K,
|
||
Mastrianni JA</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
2010 Dec;23(4):277-98.
|
||
Epub 2010 Oct 11
|
||
doi: 10.1177/0891988710383576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20938044" target="_blank">20938044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gerstmann-Straussler-Scheinker%20syndrome%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 (46)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37088611">Human prion diseases: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
|
||
Barrero-Hernández F,
|
||
Aliaga-Martínez L</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Jun 23;160(12):554-560.
|
||
Epub 2023 Apr 21
|
||
doi: 10.1016/j.medcli.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183777">Prion diseases reported in the "Annual of the Pathological Autopsy Cases in Japan".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horimoto Y,
|
||
Sato C,
|
||
Inagaki A,
|
||
Tajima T,
|
||
Hibino H,
|
||
Kabasawa H,
|
||
Inagaki H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2021 Jan 15;420:117215.
|
||
Epub 2020 Nov 2
|
||
doi: 10.1016/j.jns.2020.117215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183777" target="_blank">33183777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31533183">Prion Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldwin KJ,
|
||
Correll CM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2019 Aug;39(4):428-439.
|
||
Epub 2019 Sep 18
|
||
doi: 10.1055/s-0039-1687841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31533183" target="_blank">31533183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26633779">Prion Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geschwind MD</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2015 Dec;21(6 Neuroinfectious Disease):1612-38.
|
||
doi: 10.1212/CON.0000000000000251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26633779" target="_blank">26633779</a><a href="/pmc/articles/PMC4879966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20938044">The prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown K,
|
||
Mastrianni JA</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
2010 Dec;23(4):277-98.
|
||
Epub 2010 Oct 11
|
||
doi: 10.1177/0891988710383576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20938044" target="_blank">20938044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gerstmann-Straussler-Scheinker%20syndrome%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 (69)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34209482">MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Contiliani DF,
|
||
Ribeiro YA,
|
||
de Moraes VN,
|
||
Pereira TC</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Jun 29;10(7)
|
||
doi: 10.3390/cells10071620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34209482" target="_blank">34209482</a><a href="/pmc/articles/PMC8307047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24274622">Spontaneous generation of infectious prion disease in transgenic mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres JM,
|
||
Castilla J,
|
||
Pintado B,
|
||
Gutiérrez-Adan A,
|
||
Andréoletti O,
|
||
Aguilar-Calvo P,
|
||
Arroba AI,
|
||
Parra-Arrondo B,
|
||
Ferrer I,
|
||
Manzanares J,
|
||
Espinosa JC</span><br />
|
||
<span class="medgenPMjournal">Emerg Infect Dis</span>
|
||
2013 Dec;19(12):1938-47.
|
||
doi: 10.3201/eid1912.130106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24274622" target="_blank">24274622</a><a href="/pmc/articles/PMC3840888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22043907">Upregulation of micro RNA-146a (miRNA-146a), a marker for inflammatory neurodegeneration, in sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Straussler-Scheinker (GSS) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukiw WJ,
|
||
Dua P,
|
||
Pogue AI,
|
||
Eicken C,
|
||
Hill JM</span><br />
|
||
<span class="medgenPMjournal">J Toxicol Environ Health A</span>
|
||
2011;74(22-24):1460-8.
|
||
doi: 10.1080/15287394.2011.618973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22043907" target="_blank">22043907</a><a href="/pmc/articles/PMC3719866" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16769939">Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arata H,
|
||
Takashima H,
|
||
Hirano R,
|
||
Tomimitsu H,
|
||
Machigashira K,
|
||
Izumi K,
|
||
Kikuno M,
|
||
Ng AR,
|
||
Umehara F,
|
||
Arisato T,
|
||
Ohkubo R,
|
||
Nakabeppu Y,
|
||
Nakajo M,
|
||
Osame M,
|
||
Arimura K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Jun 13;66(11):1672-8.
|
||
doi: 10.1212/01.wnl.0000218211.85675.18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16769939" target="_blank">16769939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12209557">Infective agents in fixed human cadavers: a brief review and suggested guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demiryürek D,
|
||
Bayramoğlu A,
|
||
Ustaçelebi S</span><br />
|
||
<span class="medgenPMjournal">Anat Rec</span>
|
||
2002 Aug 15;269(4):194-7.
|
||
doi: 10.1002/ar.10143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12209557" target="_blank">12209557</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gerstmann-Straussler-Scheinker%20syndrome%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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37088611">Human prion diseases: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
|
||
Barrero-Hernández F,
|
||
Aliaga-Martínez L</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Jun 23;160(12):554-560.
|
||
Epub 2023 Apr 21
|
||
doi: 10.1016/j.medcli.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31413052">Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang AA,
|
||
Longardner K,
|
||
Dickson D,
|
||
Sell R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Aug 13;12(8)
|
||
doi: 10.1136/bcr-2019-229729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413052" target="_blank">31413052</a><a href="/pmc/articles/PMC6700593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23084018">Findings in the Gerstmann-Sträussler-Scheinker syndrome in an 18F-FDG PET-CT study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Achury C,
|
||
Camacho V,
|
||
Fernández A,
|
||
Gómez-Ansón B,
|
||
Jaller R,
|
||
Carrió I</span><br />
|
||
<span class="medgenPMjournal">Rev Esp Med Nucl Imagen Mol</span>
|
||
2012 Nov-Dec;31(6):352-3.
|
||
Epub 2012 May 31
|
||
doi: 10.1016/j.remn.2012.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23084018" target="_blank">23084018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7626971">The dementia of Gerstmann-Sträussler-Scheinker syndrome: clinical variability demonstrated by two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lyketsos CG,
|
||
Kraus M</span><br />
|
||
<span class="medgenPMjournal">J Neuropsychiatry Clin Neurosci</span>
|
||
1995 Spring;7(2):239-42.
|
||
doi: 10.1176/jnp.7.2.239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7626971" target="_blank">7626971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1687378">The human spongiform encephalopathies: kuru, Creutzfeldt-Jakob disease, and the Gerstmann-Sträussler-Scheinker syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown P,
|
||
Gajdusek DC</span><br />
|
||
<span class="medgenPMjournal">Curr Top Microbiol Immunol</span>
|
||
1991;172:1-20.
|
||
doi: 10.1007/978-3-642-76540-7_1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1687378" target="_blank">1687378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gerstmann-Straussler-Scheinker%20syndrome%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/31340582">Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardi L,
|
||
Bruni AC</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 23;20(14)
|
||
doi: 10.3390/ijms20143606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31340582" target="_blank">31340582</a><a href="/pmc/articles/PMC6678283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24274622">Spontaneous generation of infectious prion disease in transgenic mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres JM,
|
||
Castilla J,
|
||
Pintado B,
|
||
Gutiérrez-Adan A,
|
||
Andréoletti O,
|
||
Aguilar-Calvo P,
|
||
Arroba AI,
|
||
Parra-Arrondo B,
|
||
Ferrer I,
|
||
Manzanares J,
|
||
Espinosa JC</span><br />
|
||
<span class="medgenPMjournal">Emerg Infect Dis</span>
|
||
2013 Dec;19(12):1938-47.
|
||
doi: 10.3201/eid1912.130106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24274622" target="_blank">24274622</a><a href="/pmc/articles/PMC3840888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698707">Altered toxicity of the prion protein peptide PrP106-126 carrying the Ala(117)-->Val mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DR</span><br />
|
||
<span class="medgenPMjournal">Biochem J</span>
|
||
2000 Mar 15;346 Pt 3(Pt 3):785-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698707" target="_blank">10698707</a><a href="/pmc/articles/PMC1220913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8841969">Human prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ironside JW</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm Suppl</span>
|
||
1996;47:231-46.
|
||
doi: 10.1007/978-3-7091-6892-9_16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8841969" target="_blank">8841969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1672296">Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speer MC,
|
||
Goldgaber D,
|
||
Goldfarb LG,
|
||
Roses AD,
|
||
Pericak-Vance MA</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1991 Feb;9(2):366-8.
|
||
doi: 10.1016/0888-7543(91)90266-h.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1672296" target="_blank">1672296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gerstmann-Straussler-Scheinker%20syndrome%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 (43)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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<div class=" bottom">
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</div>
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</div>
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017495%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017495%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017495%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017495%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=137440" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=356" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Gerstmann-Straussler-Scheinker%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gerstmann-straussler-scheinker%20syndrome%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=176640" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5621[geneid]" target="_blank">View PRNP variations in ClinVar</a></li><li><a href="/nuccore/216547727" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=137440" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spongiform+encephalopathy/6846" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/gerstmann_straussler_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Gerstmann-Straussler-Scheinker%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/prion-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7690/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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|
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<a href="/pubmed/20301407" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
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|
||
<a href="/pubmed/clinical?term=Gerstmann-Straussler-Scheinker%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Gerstmann-Straussler-Scheinker%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=4886" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017495[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=4886" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=4886" ref="log$=recordlinks">PubMed (OMIM)</a>
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