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<meta name="keywords" content="C4083045, finding, gigyf2, gigyf2 hereditary late onset parkinson disease, hereditary late onset parkinson disease caused by mutation in gigyf2, park11, parkinson disease 11, parkinson disease 11, autosomal dominant, susceptibility to, susceptibility to autosomal dominant parkinson disease 11, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=896658
|
||
ConceptID=C4083045
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1223/bin/parkinson-overview-Image001.gif" src-large="/books/NBK1223/bin/parkinson-overview-Image001.jpg" /></a><br /><a href="/books/NBK1223/figure/parkinson-overview.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Parkinson disease 11, autosomal dominant, susceptibility to<span class="h1sub">(PARK11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896658</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.">C4083045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Parkinson disease 11</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="GIGYF2 - ID: 26058 - NCBI Gene" href="/gene/26058" class="medgenPMinfo">GIGYF2</a> (2q37.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011896" target="_blank">MONDO:0011896</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607688" target="_blank">607688</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.<br /><br />Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.<br /><br />Often the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.<br /><br />Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<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_66697"><div><strong>Resting tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66697</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.">C0234379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66697">Feature record</a> | <a href="/medgen?term=%22Resting%20tremor%22%5BClinical%20Features%5D%20OR%2066697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375989"><div><strong>Parkinsonism with favorable response to dopaminergic medication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375989</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.">C1846868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375989">Feature record</a> | <a href="/medgen?term=%22Parkinsonism%20with%20favorable%20response%20to%20dopaminergic%20medication%22%5BClinical%20Features%5D%20OR%20375989%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="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 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">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonism with favorable response to dopaminergic medication</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Resting tremor</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0030567[DISCUI]&test_type=Clinical" ref="ncbi_uid=10590">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10590" target="_blank" href="/omim/516000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=10590">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10590" ref="ncbi_uid=10590">V</a></span></span><span class="TLline"><a href="/medgen/10590" ref="tree=GTR&ncbi_uid=10590&link_uid=10590" title="View MedGen record for 'Parkinson disease'">Parkinson 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=C1868595[DISCUI]&test_type=Clinical" ref="ncbi_uid=357008">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357008" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=357008">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357008" ref="ncbi_uid=357008">V</a></span></span><span class="TLline"><a href="/medgen/357008" ref="tree=GTR&ncbi_uid=357008&link_uid=357008" title="View MedGen record for 'Autosomal dominant Parkinson disease 1'">Autosomal dominant Parkinson disease 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854182[DISCUI]&test_type=Clinical" ref="ncbi_uid=381361">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381361" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=381361">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381361" ref="ncbi_uid=381361">V</a></span></span><span class="TLline"><a href="/medgen/381361" ref="tree=GTR&ncbi_uid=381361&link_uid=381361" title="View MedGen record for 'Autosomal dominant Parkinson disease 4'">Autosomal dominant Parkinson disease 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846862[DISCUI]&test_type=Clinical" ref="ncbi_uid=339628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339628" target="_blank" href="/omim/607060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1208%20OR%20NBK1223)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=339628">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339628" ref="ncbi_uid=339628">V</a></span></span><span class="TLline"><a href="/medgen/339628" ref="tree=GTR&ncbi_uid=339628&link_uid=339628" title="View MedGen record for 'Autosomal dominant Parkinson disease 8'">Autosomal dominant Parkinson disease 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853833[DISCUI]&test_type=Clinical" ref="ncbi_uid=342982">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342982" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK26472)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=342982">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342982" ref="ncbi_uid=342982">V</a></span></span><span class="TLline"><a href="/medgen/342982" ref="tree=GTR&ncbi_uid=342982&link_uid=342982" title="View MedGen record for 'Autosomal recessive early-onset Parkinson disease 6'">Autosomal recessive early-onset Parkinson disease 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853445[DISCUI]&test_type=Clinical" ref="ncbi_uid=344049">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344049" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=344049">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344049" ref="ncbi_uid=344049">V</a></span></span><span class="TLline"><a href="/medgen/344049" ref="tree=GTR&ncbi_uid=344049&link_uid=344049" title="View MedGen record for 'Autosomal recessive early-onset Parkinson disease 7'">Autosomal recessive early-onset Parkinson disease 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868675[DISCUI]&test_type=Clinical" ref="ncbi_uid=401500">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=401500" target="_blank" href="/omim/600116">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1478)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=401500">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=401500" ref="ncbi_uid=401500">V</a></span></span><span class="TLline"><a href="/medgen/401500" ref="tree=GTR&ncbi_uid=401500&link_uid=401500" title="View MedGen record for 'Autosomal recessive juvenile Parkinson disease 2'">Autosomal recessive juvenile Parkinson disease 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751842[DISCUI]&test_type=Clinical" ref="ncbi_uid=414488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414488" target="_blank" href="/omim/612953">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=414488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414488" ref="ncbi_uid=414488">V</a></span></span><span class="TLline"><a href="/medgen/414488" ref="tree=GTR&ncbi_uid=414488&link_uid=414488" title="View MedGen record for 'Autosomal recessive Parkinson disease 14'">Autosomal recessive Parkinson disease 14</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=66768" target="_blank" href="/omim/168100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=66768">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/66768" ref="tree=GTR&ncbi_uid=66768&link_uid=66768" title="View MedGen record for 'Juvenile paralysis agitans of Hunt'">Juvenile paralysis agitans of Hunt</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847640[DISCUI]&test_type=Clinical" ref="ncbi_uid=338281">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338281" target="_blank" href="/omim/606693">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=338281">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338281" ref="ncbi_uid=338281">V</a></span></span><span class="TLline"><a href="/medgen/338281" ref="tree=GTR&ncbi_uid=338281&link_uid=338281" title="View MedGen record for 'Kufor-Rakeb syndrome'">Kufor-Rakeb syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/830971" ref="tree=GTR&ncbi_uid=830971&link_uid=830971" title="View MedGen record for 'Parkinsonism due to ATP13A2 deficiency'">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=409973" target="_blank" href="/omim/605909">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=409973">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409973" ref="ncbi_uid=409973">V</a></span></span><span class="TLline"><a href="/medgen/409973" ref="tree=GTR&ncbi_uid=409973&link_uid=409973" title="View MedGen record for 'Parkinson disease 6'">Parkinson disease 6</a></span><ul><li class="TLclosed"><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 Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=1684827">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684827" ref="ncbi_uid=1684827">V</a></span></span><span class="TLline"><a href="/medgen/1684827" ref="tree=GTR&ncbi_uid=1684827&link_uid=1684827" title="View MedGen record for 'Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1'">Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1</a></span></li></ul></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=339741" target="_blank" href="/omim/606852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=339741">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339741" ref="tree=GTR&ncbi_uid=339741&link_uid=339741" title="View MedGen record for 'Parkinson disease 10'">Parkinson disease 10</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=C4083045[DISCUI]&test_type=Clinical" ref="ncbi_uid=896658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896658" target="_blank" href="/omim/607688">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=896658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=896658" ref="ncbi_uid=896658">V</a></span></span><span class="TLline">Parkinson disease 11, autosomal dominant, susceptibility to</span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=337173" target="_blank" href="/omim/300557">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337173" ref="ncbi_uid=337173">V</a></span></span><span class="TLline"><a href="/medgen/337173" ref="tree=GTR&ncbi_uid=337173&link_uid=337173" title="View MedGen record for 'Parkinson disease 12'">Parkinson disease 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853202[DISCUI]&test_type=Clinical" ref="ncbi_uid=343992">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343992" target="_blank" href="/omim/606441">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=343992">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343992" ref="ncbi_uid=343992">V</a></span></span><span class="TLline"><a href="/medgen/343992" ref="tree=GTR&ncbi_uid=343992&link_uid=343992" title="View MedGen record for 'Parkinson disease 13, autosomal dominant, susceptibility to'">Parkinson disease 13, autosomal dominant, susceptibility to</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=442620" target="_blank" href="/omim/613164">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=442620">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/442620" ref="tree=GTR&ncbi_uid=442620&link_uid=442620" title="View MedGen record for 'Parkinson disease 16'">Parkinson disease 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280133[DISCUI]&test_type=Clinical" ref="ncbi_uid=481763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481763" target="_blank" href="/omim/601501">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK447258)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=481763">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481763" ref="ncbi_uid=481763">V</a></span></span><span class="TLline"><a href="/medgen/481763" ref="tree=GTR&ncbi_uid=481763&link_uid=481763" title="View MedGen record for 'Parkinson disease 17'">Parkinson disease 17</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=355499" target="_blank" href="/omim/602404">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=355499">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355499" ref="tree=GTR&ncbi_uid=355499&link_uid=355499" title="View MedGen record for 'Parkinson disease 3, autosomal dominant'">Parkinson disease 3, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150899[DISCUI]&test_type=Clinical" ref="ncbi_uid=462249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462249" target="_blank" href="/omim/191342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=462249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462249" ref="ncbi_uid=462249">V</a></span></span><span class="TLline"><a href="/medgen/462249" ref="tree=GTR&ncbi_uid=462249&link_uid=462249" title="View MedGen record for 'Parkinson disease 5, autosomal dominant, susceptibility to'">Parkinson disease 5, autosomal dominant, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160718[DISCUI]&test_type=Clinical" ref="ncbi_uid=463618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463618" target="_blank" href="/omim/168600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1269)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=463618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463618" ref="ncbi_uid=463618">V</a></span></span><span class="TLline"><a href="/medgen/463618" ref="tree=GTR&ncbi_uid=463618&link_uid=463618" title="View MedGen record for 'Parkinson disease, late-onset'">Parkinson disease, late-onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838867[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333199" target="_blank" href="/omim/556500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=333199">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333199" ref="ncbi_uid=333199">V</a></span></span><span class="TLline"><a href="/medgen/333199" ref="tree=GTR&ncbi_uid=333199&link_uid=333199" title="View MedGen record for 'Parkinson disease, mitochondrial'">Parkinson disease, mitochondrial</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850100[DISCUI]&test_type=Clinical" ref="ncbi_uid=337969">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337969" target="_blank" href="/omim/260300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337969">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337969" ref="ncbi_uid=337969">V</a></span></span><span class="TLline"><a href="/medgen/337969" ref="tree=GTR&ncbi_uid=337969&link_uid=337969" title="View MedGen record for 'Parkinsonian-pyramidal syndrome'">Parkinsonian-pyramidal syndrome</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/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/224837" ref="tree=MeSH" title="MedGen record for Degenerative disorder">Degenerative disorder</a></span><ul><li><span class="TLline"><a href="/medgen/124363" ref="tree=MeSH" title="MedGen record for Degenerative disease of the central nervous system">Degenerative disease of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/41927" ref="tree=MeSH" title="MedGen record for Extrapyramidal disease">Extrapyramidal disease</a></span><ul><li><span class="TLline"><a href="/medgen/10590" ref="tree=MeSH" title="MedGen record for Parkinson disease">Parkinson disease</a></span><ul><li><span class="matched_ds">Parkinson disease 11, autosomal dominant, susceptibility to</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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/22166400">Autosomal dominant parkinsonism: its etiologies and differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori N</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2012 Jan;18 Suppl 1:S1-3.
|
||
doi: 10.1016/S1353-8020(11)70003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22166400" target="_blank">22166400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15785861">Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krygowska-Wajs A,
|
||
Kachergus JM,
|
||
Hulihan MM,
|
||
Farrer MJ,
|
||
Searcy JA,
|
||
Booij J,
|
||
Berendse HW,
|
||
Wolters ECh,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
||
2005 Nov;112(11):1487-502.
|
||
Epub 2005 Mar 23
|
||
doi: 10.1007/s00702-005-0290-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15785861" target="_blank">15785861</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to)%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/38614108">RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gustavsson EK,
|
||
Follett J,
|
||
Trinh J,
|
||
Barodia SK,
|
||
Real R,
|
||
Liu Z,
|
||
Grant-Peters M,
|
||
Fox JD,
|
||
Appel-Cresswell S,
|
||
Stoessl AJ,
|
||
Rajput A,
|
||
Rajput AH,
|
||
Auer R,
|
||
Tilney R,
|
||
Sturm M,
|
||
Haack TB,
|
||
Lesage S,
|
||
Tesson C,
|
||
Brice A,
|
||
Vilariño-Güell C,
|
||
Ryten M,
|
||
Goldberg MS,
|
||
West AB,
|
||
Hu MT,
|
||
Morris HR,
|
||
Sharma M,
|
||
Gan-Or Z,
|
||
Samanci B,
|
||
Lis P,
|
||
Periñan MT,
|
||
Amouri R,
|
||
Ben Sassi S,
|
||
Hentati F;
|
||
Global Parkinson's Genetics Program (GP2),
|
||
Tonelli F,
|
||
Alessi DR,
|
||
Farrer MJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 Jun;23(6):603-614.
|
||
Epub 2024 Apr 10
|
||
doi: 10.1016/S1474-4422(24)00121-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38614108" target="_blank">38614108</a><a href="/pmc/articles/PMC11096864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32774336">Beyond Host Defense: Deregulation of Drosophila Immunity and Age-Dependent Neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora S,
|
||
Ligoxygakis P</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:1574.
|
||
Epub 2020 Jul 22
|
||
doi: 10.3389/fimmu.2020.01574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32774336" target="_blank">32774336</a><a href="/pmc/articles/PMC7387716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23125461">A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma M,
|
||
Ioannidis JP,
|
||
Aasly JO,
|
||
Annesi G,
|
||
Brice A,
|
||
Bertram L,
|
||
Bozi M,
|
||
Barcikowska M,
|
||
Crosiers D,
|
||
Clarke CE,
|
||
Facheris MF,
|
||
Farrer M,
|
||
Garraux G,
|
||
Gispert S,
|
||
Auburger G,
|
||
Vilariño-Güell C,
|
||
Hadjigeorgiou GM,
|
||
Hicks AA,
|
||
Hattori N,
|
||
Jeon BS,
|
||
Jamrozik Z,
|
||
Krygowska-Wajs A,
|
||
Lesage S,
|
||
Lill CM,
|
||
Lin JJ,
|
||
Lynch T,
|
||
Lichtner P,
|
||
Lang AE,
|
||
Libioulle C,
|
||
Murata M,
|
||
Mok V,
|
||
Jasinska-Myga B,
|
||
Mellick GD,
|
||
Morrison KE,
|
||
Meitnger T,
|
||
Zimprich A,
|
||
Opala G,
|
||
Pramstaller PP,
|
||
Pichler I,
|
||
Park SS,
|
||
Quattrone A,
|
||
Rogaeva E,
|
||
Ross OA,
|
||
Stefanis L,
|
||
Stockton JD,
|
||
Satake W,
|
||
Silburn PA,
|
||
Strom TM,
|
||
Theuns J,
|
||
Tan EK,
|
||
Toda T,
|
||
Tomiyama H,
|
||
Uitti RJ,
|
||
Van Broeckhoven C,
|
||
Wirdefeldt K,
|
||
Wszolek Z,
|
||
Xiromerisiou G,
|
||
Yomono HS,
|
||
Yueh KC,
|
||
Zhao Y,
|
||
Gasser T,
|
||
Maraganore D,
|
||
Krüger R;
|
||
GEOPD consortium</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2012 Nov;49(11):721-6.
|
||
doi: 10.1136/jmedgenet-2012-101155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23125461" target="_blank">23125461</a><a href="/pmc/articles/PMC3488700" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21796139">Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seki N,
|
||
Takahashi Y,
|
||
Tomiyama H,
|
||
Rogaeva E,
|
||
Murayama S,
|
||
Mizuno Y,
|
||
Hattori N,
|
||
Marras C,
|
||
Lang AE,
|
||
George-Hyslop PS,
|
||
Goto J,
|
||
Tsuji S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2011 Sep;56(9):671-5.
|
||
Epub 2011 Jul 28
|
||
doi: 10.1038/jhg.2011.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21796139" target="_blank">21796139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9877530">Genetic epidemiology of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payami H,
|
||
Zareparsi S</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
1998 Summer;11(2):98-106.
|
||
doi: 10.1177/089198879801100207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9877530" target="_blank">9877530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38614108">RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gustavsson EK,
|
||
Follett J,
|
||
Trinh J,
|
||
Barodia SK,
|
||
Real R,
|
||
Liu Z,
|
||
Grant-Peters M,
|
||
Fox JD,
|
||
Appel-Cresswell S,
|
||
Stoessl AJ,
|
||
Rajput A,
|
||
Rajput AH,
|
||
Auer R,
|
||
Tilney R,
|
||
Sturm M,
|
||
Haack TB,
|
||
Lesage S,
|
||
Tesson C,
|
||
Brice A,
|
||
Vilariño-Güell C,
|
||
Ryten M,
|
||
Goldberg MS,
|
||
West AB,
|
||
Hu MT,
|
||
Morris HR,
|
||
Sharma M,
|
||
Gan-Or Z,
|
||
Samanci B,
|
||
Lis P,
|
||
Periñan MT,
|
||
Amouri R,
|
||
Ben Sassi S,
|
||
Hentati F;
|
||
Global Parkinson's Genetics Program (GP2),
|
||
Tonelli F,
|
||
Alessi DR,
|
||
Farrer MJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 Jun;23(6):603-614.
|
||
Epub 2024 Apr 10
|
||
doi: 10.1016/S1474-4422(24)00121-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38614108" target="_blank">38614108</a><a href="/pmc/articles/PMC11096864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22166400">Autosomal dominant parkinsonism: its etiologies and differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori N</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2012 Jan;18 Suppl 1:S1-3.
|
||
doi: 10.1016/S1353-8020(11)70003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22166400" target="_blank">22166400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22023810">Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Santos C,
|
||
Coutinho P,
|
||
Rizzu P,
|
||
Vasconcelos J,
|
||
Kay T,
|
||
Cymbron T,
|
||
Raposo M,
|
||
Heutink P,
|
||
Lima M</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2011 Oct 24;11:131.
|
||
doi: 10.1186/1471-2377-11-131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22023810" target="_blank">22023810</a><a href="/pmc/articles/PMC3217914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16115731">Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bialecka M,
|
||
Hui S,
|
||
Klodowska-Duda G,
|
||
Opala G,
|
||
Tan EK,
|
||
Drozdzik M</span><br />
|
||
<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2005 Dec 16;390(1):1-3.
|
||
doi: 10.1016/j.neulet.2005.07.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16115731" target="_blank">16115731</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24973808">Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatano T,
|
||
Funayama M,
|
||
Kubo SI,
|
||
Mata IF,
|
||
Oji Y,
|
||
Mori A,
|
||
Zabetian CP,
|
||
Waldherr SM,
|
||
Yoshino H,
|
||
Oyama G,
|
||
Shimo Y,
|
||
Fujimoto KI,
|
||
Oshima H,
|
||
Kunii Y,
|
||
Yabe H,
|
||
Mizuno Y,
|
||
Hattori N</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2014 Nov;35(11):2656.e17-2656.e23.
|
||
Epub 2014 Jun 2
|
||
doi: 10.1016/j.neurobiolaging.2014.05.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24973808" target="_blank">24973808</a><a href="/pmc/articles/PMC4171438" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16115731">Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bialecka M,
|
||
Hui S,
|
||
Klodowska-Duda G,
|
||
Opala G,
|
||
Tan EK,
|
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Drozdzik M</span><br />
|
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<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2005 Dec 16;390(1):1-3.
|
||
doi: 10.1016/j.neulet.2005.07.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16115731" target="_blank">16115731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6713312">Familial subsets in idiopathic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbeau A,
|
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Roy M</span><br />
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<span class="medgenPMjournal">Can J Neurol Sci</span>
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1984 Feb;11(1 Suppl):144-50.
|
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doi: 10.1017/s0317167100046308.
|
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<span class="bold">PMID: </span><a href="/pubmed/6713312" target="_blank">6713312</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26076170">R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korvatska O,
|
||
Leverenz JB,
|
||
Jayadev S,
|
||
McMillan P,
|
||
Kurtz I,
|
||
Guo X,
|
||
Rumbaugh M,
|
||
Matsushita M,
|
||
Girirajan S,
|
||
Dorschner MO,
|
||
Kiianitsa K,
|
||
Yu CE,
|
||
Brkanac Z,
|
||
Garden GA,
|
||
Raskind WH,
|
||
Bird TD</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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||
2015 Aug;72(8):920-7.
|
||
doi: 10.1001/jamaneurol.2015.0979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26076170" target="_blank">26076170</a><a href="/pmc/articles/PMC4825672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16115731">Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bialecka M,
|
||
Hui S,
|
||
Klodowska-Duda G,
|
||
Opala G,
|
||
Tan EK,
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Drozdzik M</span><br />
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<span class="medgenPMjournal">Neurosci Lett</span>
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||
2005 Dec 16;390(1):1-3.
|
||
doi: 10.1016/j.neulet.2005.07.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16115731" target="_blank">16115731</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38614108">RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gustavsson EK,
|
||
Follett J,
|
||
Trinh J,
|
||
Barodia SK,
|
||
Real R,
|
||
Liu Z,
|
||
Grant-Peters M,
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||
Fox JD,
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||
Appel-Cresswell S,
|
||
Stoessl AJ,
|
||
Rajput A,
|
||
Rajput AH,
|
||
Auer R,
|
||
Tilney R,
|
||
Sturm M,
|
||
Haack TB,
|
||
Lesage S,
|
||
Tesson C,
|
||
Brice A,
|
||
Vilariño-Güell C,
|
||
Ryten M,
|
||
Goldberg MS,
|
||
West AB,
|
||
Hu MT,
|
||
Morris HR,
|
||
Sharma M,
|
||
Gan-Or Z,
|
||
Samanci B,
|
||
Lis P,
|
||
Periñan MT,
|
||
Amouri R,
|
||
Ben Sassi S,
|
||
Hentati F;
|
||
Global Parkinson's Genetics Program (GP2),
|
||
Tonelli F,
|
||
Alessi DR,
|
||
Farrer MJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 Jun;23(6):603-614.
|
||
Epub 2024 Apr 10
|
||
doi: 10.1016/S1474-4422(24)00121-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38614108" target="_blank">38614108</a><a href="/pmc/articles/PMC11096864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36360174">Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim J,
|
||
Daadi EW,
|
||
Oh T,
|
||
Daadi ES,
|
||
Daadi MM</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Oct 25;13(11)
|
||
doi: 10.3390/genes13111937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36360174" target="_blank">36360174</a><a href="/pmc/articles/PMC9689743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26076170">R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korvatska O,
|
||
Leverenz JB,
|
||
Jayadev S,
|
||
McMillan P,
|
||
Kurtz I,
|
||
Guo X,
|
||
Rumbaugh M,
|
||
Matsushita M,
|
||
Girirajan S,
|
||
Dorschner MO,
|
||
Kiianitsa K,
|
||
Yu CE,
|
||
Brkanac Z,
|
||
Garden GA,
|
||
Raskind WH,
|
||
Bird TD</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2015 Aug;72(8):920-7.
|
||
doi: 10.1001/jamaneurol.2015.0979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26076170" target="_blank">26076170</a><a href="/pmc/articles/PMC4825672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21796139">Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seki N,
|
||
Takahashi Y,
|
||
Tomiyama H,
|
||
Rogaeva E,
|
||
Murayama S,
|
||
Mizuno Y,
|
||
Hattori N,
|
||
Marras C,
|
||
Lang AE,
|
||
George-Hyslop PS,
|
||
Goto J,
|
||
Tsuji S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2011 Sep;56(9):671-5.
|
||
Epub 2011 Jul 28
|
||
doi: 10.1038/jhg.2011.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21796139" target="_blank">21796139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9877530">Genetic epidemiology of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payami H,
|
||
Zareparsi S</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
1998 Summer;11(2):98-106.
|
||
doi: 10.1177/089198879801100207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9877530" target="_blank">9877530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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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|
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<div class="portlet mgSection" id="ID_106">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4083045%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4083045%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4083045%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4083045%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
|
||
</ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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=607688" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Parkinson%20disease%2011,%20autosomal%20dominant,%20susceptibility%20to" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(parkinson%20disease%2011%2C%20autosomal%20dominant%2C%20susceptibility%20to)%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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|
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=612003" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=26058[geneid]" target="_blank">View GIGYF2 variations in ClinVar</a></li><li><a href="/nuccore/226693324" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=607688" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" 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.malacards.org/card/parkinson_disease_11_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Parkinson%20disease%2011,%20autosomal%20dominant,%20susceptibility%20to" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/parkinsons-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301402" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Parkinson%20disease%2011,%20autosomal%20dominant,%20susceptibility%20to" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Parkinson%20disease%2011,%20autosomal%20dominant,%20susceptibility%20to%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=896658" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=896658" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
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