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<meta name="keywords" content="C3150899, finding, park5, parkinson disease 5, parkinson disease 5, autosomal dominant, susceptibility to, parkinson disease 5, susceptibility to, susceptibility to autosomal dominant parkinson disease 5, uchl1, uchl1 young-onset parkinson disease, young-onset parkinson disease caused by mutation in uchl1, 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=462249
|
||
ConceptID=C3150899
|
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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 5, autosomal dominant, susceptibility to<span class="h1sub">(PARK5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462249</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.">C3150899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PARK5; Parkinson disease 5; Parkinson disease 5, susceptibility to</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="UCHL1 - ID: 7345 - NCBI Gene" href="/gene/7345" class="medgenPMinfo">UCHL1</a> (4p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013340" target="_blank">MONDO:0013340</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613643" target="_blank">613643</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>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<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_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">
|
||
<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></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="TLclosed"><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"><a href="/medgen/896658" ref="tree=GTR&ncbi_uid=896658&link_uid=896658" title="View MedGen record for 'Parkinson disease 11, autosomal dominant, susceptibility to'">Parkinson disease 11, 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=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="matched_ds"><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">Parkinson disease 5, autosomal dominant, susceptibility to</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 5, autosomal dominant, susceptibility to</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<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 class="nl"><a target="_blank" href="/pubmed/15680455">Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichols WC,
|
||
Pankratz N,
|
||
Hernandez D,
|
||
Paisán-Ruíz C,
|
||
Jain S,
|
||
Halter CA,
|
||
Michaels VE,
|
||
Reed T,
|
||
Rudolph A,
|
||
Shults CW,
|
||
Singleton A,
|
||
Foroud T;
|
||
Parkinson Study Group-PROGENI investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2005 Jan 29-Feb 4;365(9457):410-2.
|
||
doi: 10.1016/S0140-6736(05)17828-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15680455" target="_blank">15680455</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(parkinson%20disease%205%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/32813147">Genetics of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherian A,
|
||
Divya KP</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2020 Dec;120(6):1297-1305.
|
||
Epub 2020 Aug 19
|
||
doi: 10.1007/s13760-020-01473-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32813147" target="_blank">32813147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613234">The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Qin L,
|
||
Pan H,
|
||
Liu Z,
|
||
Jiang L,
|
||
He Y,
|
||
Zeng Q,
|
||
Zhou X,
|
||
Zhou X,
|
||
Zhou Y,
|
||
Fang Z,
|
||
Wang Z,
|
||
Xiang Y,
|
||
Yang H,
|
||
Wang Y,
|
||
Zhang K,
|
||
Zhang R,
|
||
He R,
|
||
Zhou X,
|
||
Zhou Z,
|
||
Yang N,
|
||
Liang D,
|
||
Chen J,
|
||
Zhang X,
|
||
Zhou Y,
|
||
Liu H,
|
||
Deng P,
|
||
Xu K,
|
||
Xu K,
|
||
Zhou C,
|
||
Zhong J,
|
||
Xu Q,
|
||
Sun Q,
|
||
Li B,
|
||
Zhao G,
|
||
Wang T,
|
||
Chen L,
|
||
Shang H,
|
||
Liu W,
|
||
Chan P,
|
||
Xue Z,
|
||
Wang Q,
|
||
Guo L,
|
||
Wang X,
|
||
Xu C,
|
||
Zhang Z,
|
||
Chen T,
|
||
Lei L,
|
||
Zhang H,
|
||
Wang C,
|
||
Tan J,
|
||
Yan X,
|
||
Shen L,
|
||
Jiang H,
|
||
Zhang Z,
|
||
Hu Z,
|
||
Xia K,
|
||
Yue Z,
|
||
Li J,
|
||
Guo J,
|
||
Tang B</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jul 1;143(7):2220-2234.
|
||
doi: 10.1093/brain/awaa167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613234" target="_blank">32613234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30448284">The role of monogenic genes in idiopathic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reed X,
|
||
Bandrés-Ciga S,
|
||
Blauwendraat C,
|
||
Cookson MR</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2019 Apr;124:230-239.
|
||
Epub 2018 Nov 15
|
||
doi: 10.1016/j.nbd.2018.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30448284" target="_blank">30448284</a><a href="/pmc/articles/PMC6363864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27818248">Genetics of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lill CM</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Probes</span>
|
||
2016 Dec;30(6):386-396.
|
||
Epub 2016 Nov 4
|
||
doi: 10.1016/j.mcp.2016.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27818248" target="_blank">27818248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24262182">Genetics of Parkinson's disease--state of the art, 2013.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonifati V</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2014 Jan;20 Suppl 1:S23-8.
|
||
doi: 10.1016/S1353-8020(13)70009-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24262182" target="_blank">24262182</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%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 (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613234">The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Qin L,
|
||
Pan H,
|
||
Liu Z,
|
||
Jiang L,
|
||
He Y,
|
||
Zeng Q,
|
||
Zhou X,
|
||
Zhou X,
|
||
Zhou Y,
|
||
Fang Z,
|
||
Wang Z,
|
||
Xiang Y,
|
||
Yang H,
|
||
Wang Y,
|
||
Zhang K,
|
||
Zhang R,
|
||
He R,
|
||
Zhou X,
|
||
Zhou Z,
|
||
Yang N,
|
||
Liang D,
|
||
Chen J,
|
||
Zhang X,
|
||
Zhou Y,
|
||
Liu H,
|
||
Deng P,
|
||
Xu K,
|
||
Xu K,
|
||
Zhou C,
|
||
Zhong J,
|
||
Xu Q,
|
||
Sun Q,
|
||
Li B,
|
||
Zhao G,
|
||
Wang T,
|
||
Chen L,
|
||
Shang H,
|
||
Liu W,
|
||
Chan P,
|
||
Xue Z,
|
||
Wang Q,
|
||
Guo L,
|
||
Wang X,
|
||
Xu C,
|
||
Zhang Z,
|
||
Chen T,
|
||
Lei L,
|
||
Zhang H,
|
||
Wang C,
|
||
Tan J,
|
||
Yan X,
|
||
Shen L,
|
||
Jiang H,
|
||
Zhang Z,
|
||
Hu Z,
|
||
Xia K,
|
||
Yue Z,
|
||
Li J,
|
||
Guo J,
|
||
Tang B</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jul 1;143(7):2220-2234.
|
||
doi: 10.1093/brain/awaa167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613234" target="_blank">32613234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21667065">Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quadri M,
|
||
Cossu G,
|
||
Saddi V,
|
||
Simons EJ,
|
||
Murgia D,
|
||
Melis M,
|
||
Ticca A,
|
||
Oostra BA,
|
||
Bonifati V</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2011 Aug;12(3):203-9.
|
||
Epub 2011 Jun 11
|
||
doi: 10.1007/s10048-011-0288-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21667065" target="_blank">21667065</a><a href="/pmc/articles/PMC3158341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18523869">LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin CH,
|
||
Tzen KY,
|
||
Yu CY,
|
||
Tai CH,
|
||
Farrer MJ,
|
||
Wu RM</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2008 Sep;15(5):661-7.
|
||
Epub 2008 Jun 4
|
||
doi: 10.1007/s11373-008-9260-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18523869" target="_blank">18523869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18091429">Genetics of Parkinson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pankratz N,
|
||
Foroud T</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2007 Dec;9(12):801-11.
|
||
doi: 10.1097/gim.0b013e31815bf97c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18091429" target="_blank">18091429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12058349">Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pankratz N,
|
||
Nichols WC,
|
||
Uniacke SK,
|
||
Halter C,
|
||
Rudolph A,
|
||
Shults C,
|
||
Conneally PM,
|
||
Foroud T;
|
||
Parkinson Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2002 Jul;71(1):124-35.
|
||
Epub 2002 Jun 7
|
||
doi: 10.1086/341282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12058349" target="_blank">12058349</a><a href="/pmc/articles/PMC384969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24884933">Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sciacca P,
|
||
Giacchi V,
|
||
Mattia C,
|
||
Greco F,
|
||
Smilari P,
|
||
Betta P,
|
||
Distefano G</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2014 May 9;14:66.
|
||
doi: 10.1186/1471-2261-14-66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24884933" target="_blank">24884933</a><a href="/pmc/articles/PMC4039990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19181647">Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young JE,
|
||
Vilariño-Güell C,
|
||
Lin SC,
|
||
Wszolek ZK,
|
||
Farrer MJ</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2009 Feb;84(2):134-8.
|
||
doi: 10.4065/84.2.134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19181647" target="_blank">19181647</a><a href="/pmc/articles/PMC2664577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10661862">Molecular genetics of dopa-responsive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ichinose H,
|
||
Suzuki T,
|
||
Inagaki H,
|
||
Ohye T,
|
||
Nagatsu T</span><br />
|
||
<span class="medgenPMjournal">Biol Chem</span>
|
||
1999 Dec;380(12):1355-64.
|
||
doi: 10.1515/BC.1999.175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10661862" target="_blank">10661862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%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/32557143">Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smaili I,
|
||
Tesson C,
|
||
Regragui W,
|
||
Bertrand H,
|
||
Rahmani M,
|
||
Bouslam N,
|
||
Benomar A,
|
||
Brice A,
|
||
Lesage S,
|
||
Bouhouche A</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2021 Jan;71(1):142-152.
|
||
Epub 2020 Jun 16
|
||
doi: 10.1007/s12031-020-01635-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32557143" target="_blank">32557143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28108469">Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lahut S,
|
||
Gispert S,
|
||
Ömür Ö,
|
||
Depboylu C,
|
||
Seidel K,
|
||
Domínguez-Bautista JA,
|
||
Brehm N,
|
||
Tireli H,
|
||
Hackmann K,
|
||
Pirkevi C,
|
||
Leube B,
|
||
Ries V,
|
||
Reim K,
|
||
Brose N,
|
||
den Dunnen WF,
|
||
Johnson M,
|
||
Wolf Z,
|
||
Schindewolf M,
|
||
Schrempf W,
|
||
Reetz K,
|
||
Young P,
|
||
Vadasz D,
|
||
Frangakis AS,
|
||
Schröck E,
|
||
Steinmetz H,
|
||
Jendrach M,
|
||
Rüb U,
|
||
Başak AN,
|
||
Oertel W,
|
||
Auburger G</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2017 May 1;10(5):619-631.
|
||
Epub 2017 Jan 20
|
||
doi: 10.1242/dmm.028035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28108469" target="_blank">28108469</a><a href="/pmc/articles/PMC5451169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27818248">Genetics of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lill CM</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Probes</span>
|
||
2016 Dec;30(6):386-396.
|
||
Epub 2016 Nov 4
|
||
doi: 10.1016/j.mcp.2016.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27818248" target="_blank">27818248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27111571">The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mata IF,
|
||
Davis MY,
|
||
Lopez AN,
|
||
Dorschner MO,
|
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Martinez E,
|
||
Yearout D,
|
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Cholerton BA,
|
||
Hu SC,
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Edwards KL,
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||
Bird TD,
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Zabetian CP</span><br />
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<span class="medgenPMjournal">Am J Med Genet B Neuropsychiatr Genet</span>
|
||
2016 Oct;171(7):925-30.
|
||
Epub 2016 Apr 25
|
||
doi: 10.1002/ajmg.b.32452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27111571" target="_blank">27111571</a><a href="/pmc/articles/PMC5028305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24884933">Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sciacca P,
|
||
Giacchi V,
|
||
Mattia C,
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||
Greco F,
|
||
Smilari P,
|
||
Betta P,
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Distefano G</span><br />
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<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2014 May 9;14:66.
|
||
doi: 10.1186/1471-2261-14-66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24884933" target="_blank">24884933</a><a href="/pmc/articles/PMC4039990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34468500">Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos-Lobato BL,
|
||
Schumacher-Schuh A,
|
||
Mata IF,
|
||
Letro GH,
|
||
Braga-Neto P,
|
||
Brandão PRP,
|
||
Godeiro-Junior CO,
|
||
Coletta MVD,
|
||
Camargos ST,
|
||
Borges V,
|
||
Rieder CRM,
|
||
Tumas V</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2021 Jul;79(7):612-623.
|
||
doi: 10.1590/0004-282X-anp-2020-0409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34468500" target="_blank">34468500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30448284">The role of monogenic genes in idiopathic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reed X,
|
||
Bandrés-Ciga S,
|
||
Blauwendraat C,
|
||
Cookson MR</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2019 Apr;124:230-239.
|
||
Epub 2018 Nov 15
|
||
doi: 10.1016/j.nbd.2018.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30448284" target="_blank">30448284</a><a href="/pmc/articles/PMC6363864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27818248">Genetics of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lill CM</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Probes</span>
|
||
2016 Dec;30(6):386-396.
|
||
Epub 2016 Nov 4
|
||
doi: 10.1016/j.mcp.2016.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27818248" target="_blank">27818248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12402251">A susceptibility gene for late-onset idiopathic Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hicks AA,
|
||
Pétursson H,
|
||
Jónsson T,
|
||
Stefánsson H,
|
||
Jóhannsdóttir HS,
|
||
Sainz J,
|
||
Frigge ML,
|
||
Kong A,
|
||
Gulcher JR,
|
||
Stefánsson K,
|
||
Sveinbjörnsdóttir S</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2002 Nov;52(5):549-55.
|
||
doi: 10.1002/ana.10324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12402251" target="_blank">12402251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12058349">Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pankratz N,
|
||
Nichols WC,
|
||
Uniacke SK,
|
||
Halter C,
|
||
Rudolph A,
|
||
Shults C,
|
||
Conneally PM,
|
||
Foroud T;
|
||
Parkinson Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2002 Jul;71(1):124-35.
|
||
Epub 2002 Jun 7
|
||
doi: 10.1086/341282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12058349" target="_blank">12058349</a><a href="/pmc/articles/PMC384969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%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 (24)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/34468500">Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos-Lobato BL,
|
||
Schumacher-Schuh A,
|
||
Mata IF,
|
||
Letro GH,
|
||
Braga-Neto P,
|
||
Brandão PRP,
|
||
Godeiro-Junior CO,
|
||
Coletta MVD,
|
||
Camargos ST,
|
||
Borges V,
|
||
Rieder CRM,
|
||
Tumas V</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2021 Jul;79(7):612-623.
|
||
doi: 10.1590/0004-282X-anp-2020-0409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34468500" target="_blank">34468500</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%205%2C%20autosomal%20dominant%2C%20susceptibility%20to%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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|
||
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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><li><a href="/gtr/tests?term=C3150899%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150899%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150899%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150899%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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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=613643" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Parkinson%20disease%205,%20autosomal%20dominant,%20susceptibility%20to" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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%205%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Parkinson%20disease%205%2C%20autosomal%20dominant%2C%20susceptibility%20to%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=191342" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7345[geneid]" target="_blank">View UCHL1 variations in ClinVar</a></li><li><a href="/nuccore/259013237" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613643" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/parkinson_disease_5_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%205,%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>
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</div>
|
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<a href="/pubmed/clinical?term=Parkinson%20disease%205,%20autosomal%20dominant,%20susceptibility%20to" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Parkinson%20disease%205,%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>
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</li>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462249" ref="log$=recordlinks">ClinVar</a>
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