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<meta name="keywords" content="C4693587, crat, disease or syndrome, nbia8, neurodegeneration with brain iron accumulation 8, 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="Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1645224
|
||
ConceptID=C4693587
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodegeneration with brain iron accumulation 8<span class="h1sub">(NBIA8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645224</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.">C4693587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NBIA8; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8</td></tr>
|
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<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="CRAT - ID: 1384 - NCBI Gene" href="/gene/1384" class="medgenPMinfo">CRAT</a> (9q34.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054764" target="_blank">MONDO:0054764</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617917" target="_blank">617917</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>
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||
<div class="portlet_content ln">Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101791"><div><strong>Sensory neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101791</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.">C0151313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy affecting the sensory nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101791">Feature record</a> | <a href="/medgen?term=%22Sensory%20neuropathy%22%5BClinical%20Features%5D%20OR%20101791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68544"><div><strong>Unsteady gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68544</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.">C0231686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A shaky or wobbly manner of walking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68544">Feature record</a> | <a href="/medgen?term=%22Unsteady%20gait%22%5BClinical%20Features%5D%20OR%2068544%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866729"><div><strong>Iron accumulation in brain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866729</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.">C4021076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal build up of iron (Fe) in brain tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866729">Feature record</a> | <a href="/medgen?term=%22Iron%20accumulation%20in%20brain%22%5BClinical%20Features%5D%20OR%20866729%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iron accumulation in brain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unsteady gait</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C2931845[DISCUI]&test_type=Clinical" ref="ncbi_uid=444156">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK121988/" ref="ncbi_uid=444156">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444156" ref="ncbi_uid=444156">V</a></span></span><span class="TLline"><a href="/medgen/444156" ref="tree=GTR&ncbi_uid=444156&link_uid=444156" title="View MedGen record for 'Neurodegeneration with brain iron accumulation'">Neurodegeneration with brain iron accumulation</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=C0878682[DISCUI]&test_type=Clinical" ref="ncbi_uid=168057">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0878682[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=168057">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=168057" target="_blank" href="/omim/117700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1493%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=168057">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=168057" ref="ncbi_uid=168057">V</a></span></span><span class="TLline"><a href="/medgen/168057" ref="tree=GTR&ncbi_uid=168057&link_uid=168057" title="View MedGen record for 'Deficiency of ferroxidase'">Deficiency of ferroxidase</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=C4310667[DISCUI]&test_type=Clinical" ref="ncbi_uid=934634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934634" target="_blank" href="/omim/604934">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934634" ref="ncbi_uid=934634">V</a></span></span><span class="TLline"><a href="/medgen/934634" ref="tree=GTR&ncbi_uid=934634&link_uid=934634" title="View MedGen record for 'Encephalopathy, progressive, with amyotrophy and optic atrophy'">Encephalopathy, progressive, with amyotrophy and optic atrophy</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=C3668943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=777150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777150" target="_blank" href="/omim/612319">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK56080/" ref="ncbi_uid=777150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/777150" ref="tree=GTR&ncbi_uid=777150&link_uid=777150" title="View MedGen record for 'Fatty acid hydroxylase-associated neurodegeneration'">Fatty acid hydroxylase-associated neurodegeneration</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=C3496228[DISCUI]&test_type=Clinical" ref="ncbi_uid=501249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501249" target="_blank" href="/omim/611026">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK56080%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=501249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501249" ref="ncbi_uid=501249">V</a></span></span><span class="TLline"><a href="/medgen/501249" ref="tree=GTR&ncbi_uid=501249&link_uid=501249" title="View MedGen record for 'Hereditary spastic paraplegia 35'">Hereditary spastic paraplegia 35</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280371[DISCUI]&test_type=Clinical" ref="ncbi_uid=482001">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482001" target="_blank" href="/omim/614298">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK185329)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=482001">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482001" ref="ncbi_uid=482001">V</a></span></span><span class="TLline"><a href="/medgen/482001" ref="tree=GTR&ncbi_uid=482001&link_uid=482001" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 4'">Neurodegeneration with brain iron accumulation 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=C3550973[DISCUI]&test_type=Clinical" ref="ncbi_uid=763887">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763887" target="_blank" href="/omim/300526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK424403)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=763887">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763887" ref="ncbi_uid=763887">V</a></span></span><span class="TLline"><a href="/medgen/763887" ref="tree=GTR&ncbi_uid=763887&link_uid=763887" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 5'">Neurodegeneration with brain iron accumulation 5</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=C4517377[DISCUI]&test_type=Clinical" ref="ncbi_uid=1387791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1387791" target="_blank" href="/omim/609855">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK121988/" ref="ncbi_uid=1387791">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1387791" ref="ncbi_uid=1387791">V</a></span></span><span class="TLline"><a href="/medgen/1387791" ref="tree=GTR&ncbi_uid=1387791&link_uid=1387791" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 6'">Neurodegeneration with brain iron accumulation 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=C4693583[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647672" target="_blank" href="/omim/614825">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647672" ref="ncbi_uid=1647672">V</a></span></span><span class="TLline"><a href="/medgen/1647672" ref="tree=GTR&ncbi_uid=1647672&link_uid=1647672" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 7'">Neurodegeneration with brain iron accumulation 7</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=C4693587[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645224">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645224" target="_blank" href="/omim/600184">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645224" ref="ncbi_uid=1645224">V</a></span></span><span class="TLline">Neurodegeneration with brain iron accumulation 8</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853578[DISCUI]&test_type=Clinical" ref="ncbi_uid=381211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381211" target="_blank" href="/omim/134790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1141%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=381211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381211" ref="ncbi_uid=381211">V</a></span></span><span class="TLline"><a href="/medgen/381211" ref="tree=GTR&ncbi_uid=381211&link_uid=381211" title="View MedGen record for 'Neuroferritinopathy'">Neuroferritinopathy</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=C0018523[DISCUI]&test_type=Clinical" ref="ncbi_uid=6708">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6708" target="_blank" href="/omim/234200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1490%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=6708">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6708" ref="ncbi_uid=6708">V</a></span></span><span class="TLline"><a href="/medgen/6708" ref="tree=GTR&ncbi_uid=6708&link_uid=6708" title="View MedGen record for 'Pigmentary pallidal degeneration'">Pigmentary pallidal degeneration</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 unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1800044" ref="tree=GTR&ncbi_uid=1800044&link_uid=1800044" title="View MedGen record for 'Atypical pantothenate kinase-associated neurodegeneration'">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5679812[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1826057">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826057" ref="tree=GTR&ncbi_uid=1826057&link_uid=1826057" title="View MedGen record for 'Classic pantothenate kinase-associated neurodegeneration'">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN204472[DISCUI]&test_type=Clinical" ref="ncbi_uid=831067">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1675/" ref="ncbi_uid=831067">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=831067" ref="ncbi_uid=831067">V</a></span></span><span class="TLline"><a href="/medgen/831067" ref="tree=GTR&ncbi_uid=831067&link_uid=831067" title="View MedGen record for 'PLA2G6-associated neurodegeneration'">PLA2G6-associated neurodegeneration</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=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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270724[DISCUI]&test_type=Clinical" ref="ncbi_uid=82852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82852" target="_blank" href="/omim/256600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1675%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82852" ref="ncbi_uid=82852">V</a></span></span><span class="TLline"><a href="/medgen/82852" ref="tree=GTR&ncbi_uid=82852&link_uid=82852" title="View MedGen record for 'Infantile neuroaxonal dystrophy'">Infantile neuroaxonal dystrophy</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=C1857747[DISCUI]&test_type=Clinical" ref="ncbi_uid=346658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346658" target="_blank" href="/omim/603604">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1675/" ref="ncbi_uid=346658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346658" ref="ncbi_uid=346658">V</a></span></span><span class="TLline"><a href="/medgen/346658" ref="tree=GTR&ncbi_uid=346658&link_uid=346658" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 2B'">Neurodegeneration with brain iron accumulation 2B</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342286[DISCUI]&test_type=Clinical" ref="ncbi_uid=83337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83337" target="_blank" href="/omim/241080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK378974)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=83337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83337" ref="ncbi_uid=83337">V</a></span></span><span class="TLline"><a href="/medgen/83337" ref="tree=GTR&ncbi_uid=83337&link_uid=83337" title="View MedGen record for 'Woodhouse-Sakati syndrome'">Woodhouse-Sakati 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/444156" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation">Neurodegeneration with brain iron accumulation</a></span><ul><li><span class="matched_ds">Neurodegeneration with brain iron accumulation 8</span></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/36164835">Atypical idiopathic NBIA (neurodegeneration with brain iron accumulation) associated with treatment-resistant bipolar mania responding to clozapine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patwal R,
|
||
Pai NM,
|
||
Ganjekar S,
|
||
Udupi GA,
|
||
M P,
|
||
M S,
|
||
Kesavan M,
|
||
Desai G</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2022 Dec;24(8):840-843.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1111/bdi.13262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36164835" target="_blank">36164835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32386078">Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Painous C,
|
||
van Os NJH,
|
||
Delamarre A,
|
||
Michailoviene I,
|
||
Marti MJ,
|
||
van de Warrenburg BP,
|
||
Meissner WG,
|
||
Utkus A,
|
||
Reinhard C,
|
||
Graessner H,
|
||
Tijssen MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Aug;27(8):1493-1500.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1111/ene.14302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32386078" target="_blank">32386078</a><a href="/pmc/articles/PMC7496702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30293116">A review on iron chelators as potential therapeutic agents for the treatment of Alzheimer's and Parkinson's diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh YP,
|
||
Pandey A,
|
||
Vishwakarma S,
|
||
Modi G</span><br />
|
||
<span class="medgenPMjournal">Mol Divers</span>
|
||
2019 May;23(2):509-526.
|
||
Epub 2018 Oct 6
|
||
doi: 10.1007/s11030-018-9878-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30293116" target="_blank">30293116</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodegeneration%20with%20brain%20iron%20accumulation%208)%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 (3)</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/38291840">Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amini E,
|
||
Rohani M,
|
||
Lang AE,
|
||
Azad Z,
|
||
Habibi SAH,
|
||
Alavi A,
|
||
Shahidi G,
|
||
Emamikhah M,
|
||
Chitsaz A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jan;11(1):53-62.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1002/mdc3.13933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38291840" target="_blank">38291840</a><a href="/pmc/articles/PMC10828622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37653408">Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klopstock T,
|
||
Mercimek-Andrews S,
|
||
Jurecka A,
|
||
Wood P,
|
||
Cwyl M,
|
||
Klucken A,
|
||
López A,
|
||
Scalise R,
|
||
Valle A,
|
||
Mollet F,
|
||
Perez-Duenas B,
|
||
Skowronska M,
|
||
Chroscinska-Krawczyk M,
|
||
Escolar ML,
|
||
Wade A,
|
||
Rintell D</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 31;18(1):257.
|
||
doi: 10.1186/s13023-023-02869-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37653408" target="_blank">37653408</a><a href="/pmc/articles/PMC10472673" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37108349">Pathophysiology and Neuroimmune Interactions Underlying Parkinson's Disease and Traumatic Brain Injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lillian A,
|
||
Zuo W,
|
||
Laham L,
|
||
Hilfiker S,
|
||
Ye JH</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 13;24(8)
|
||
doi: 10.3390/ijms24087186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108349" target="_blank">37108349</a><a href="/pmc/articles/PMC10138999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31758347">Palliative care in 9 children with neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dangel T,
|
||
Kmieć T,
|
||
Januszaniec A,
|
||
Ważny B</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2020 Mar;41(3):653-660.
|
||
Epub 2019 Nov 22
|
||
doi: 10.1007/s10072-019-04099-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31758347" target="_blank">31758347</a><a href="/pmc/articles/PMC7040054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30340910">PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darling A,
|
||
Aguilera-Albesa S,
|
||
Tello CA,
|
||
Serrano M,
|
||
Tomás M,
|
||
Camino-León R,
|
||
Fernández-Ramos J,
|
||
Jiménez-Escrig A,
|
||
Poó P,
|
||
O'Callaghan M,
|
||
Ortez C,
|
||
Nascimento A,
|
||
Fernández Mesaque RC,
|
||
Madruga M,
|
||
Arrabal L,
|
||
Roldan S,
|
||
Gómez-Martín H,
|
||
Garrido C,
|
||
Temudo T,
|
||
Jou-Muñoz C,
|
||
Muchart J,
|
||
Huisman TAGM,
|
||
Poretti A,
|
||
Lupo V,
|
||
Espinós C,
|
||
Pérez-Dueñas B</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:179-186.
|
||
Epub 2018 Oct 13
|
||
doi: 10.1016/j.parkreldis.2018.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30340910" target="_blank">30340910</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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 (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067244">Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emamikhah M,
|
||
Saiyarsarai P,
|
||
Schneider SA,
|
||
Fasano A,
|
||
Mohammadzadeh N,
|
||
Rohani M</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2023 Jan;50(1):60-71.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1017/cjn.2021.502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067244" target="_blank">35067244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32811771">Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belohlavkova A,
|
||
Sterbova K,
|
||
Betzler C,
|
||
Burkhard S,
|
||
Panzer A,
|
||
Wolff M,
|
||
Lassuthova P,
|
||
Vlckova M,
|
||
Kyncl M,
|
||
Benova B,
|
||
Jahodova A,
|
||
Kudr M,
|
||
Goerg M,
|
||
Dusek P,
|
||
Seeman P,
|
||
Kluger G,
|
||
Krsek P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2020 Sep;28:81-88.
|
||
Epub 2020 Aug 4
|
||
doi: 10.1016/j.ejpn.2020.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32811771" target="_blank">32811771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31300018">Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall RD,
|
||
Collins A,
|
||
Escolar ML,
|
||
Jinnah HA,
|
||
Klopstock T,
|
||
Kruer MC,
|
||
Videnovic A,
|
||
Robichaux-Viehoever A,
|
||
Burns C,
|
||
Swett LL,
|
||
Revicki DA,
|
||
Bender RH,
|
||
Lenderking WR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Jul 12;14(1):174.
|
||
doi: 10.1186/s13023-019-1142-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31300018" target="_blank">31300018</a><a href="/pmc/articles/PMC6625120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29859652">PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gitiaux C,
|
||
Kaminska A,
|
||
Boddaert N,
|
||
Barcia G,
|
||
Guéden S,
|
||
The Tich SN,
|
||
De Lonlay P,
|
||
Quijano-Roy S,
|
||
Hully M,
|
||
Péréon Y,
|
||
Desguerre I</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2018 Sep;22(5):854-861.
|
||
Epub 2018 May 22
|
||
doi: 10.1016/j.ejpn.2018.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29859652" target="_blank">29859652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24522175">Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO,
|
||
AlDrees A,
|
||
Elmalik SA,
|
||
Hassan HH,
|
||
Michel M,
|
||
Stevanin G,
|
||
Azzedine H,
|
||
Salih MA</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2014 Jul;98(7):889-93.
|
||
doi: 10.1136/bjophthalmol-2013-304527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24522175" target="_blank">24522175</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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 (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38673855">The Irony of Iron: The Element with Diverse Influence on Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Kovacs GG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 12;25(8)
|
||
doi: 10.3390/ijms25084269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38673855" target="_blank">38673855</a><a href="/pmc/articles/PMC11049980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36164835">Atypical idiopathic NBIA (neurodegeneration with brain iron accumulation) associated with treatment-resistant bipolar mania responding to clozapine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patwal R,
|
||
Pai NM,
|
||
Ganjekar S,
|
||
Udupi GA,
|
||
M P,
|
||
M S,
|
||
Kesavan M,
|
||
Desai G</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2022 Dec;24(8):840-843.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1111/bdi.13262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36164835" target="_blank">36164835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28792913">Iron in neurodegenerative disorders: being in the wrong place at the wrong time?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apostolakis S,
|
||
Kypraiou AM</span><br />
|
||
<span class="medgenPMjournal">Rev Neurosci</span>
|
||
2017 Nov 27;28(8):893-911.
|
||
doi: 10.1515/revneuro-2017-0020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28792913" target="_blank">28792913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25002107">Iron in multiple sclerosis: roles in neurodegeneration and repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson E,
|
||
Nathoo N,
|
||
Mahjoub Y,
|
||
Dunn JF,
|
||
Yong VW</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2014 Aug;10(8):459-68.
|
||
Epub 2014 Jul 8
|
||
doi: 10.1038/nrneurol.2014.118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25002107" target="_blank">25002107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23007702">Progressive multiple sclerosis: pathology and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lassmann H,
|
||
van Horssen J,
|
||
Mahad D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2012 Nov 5;8(11):647-56.
|
||
Epub 2012 Sep 25
|
||
doi: 10.1038/nrneurol.2012.168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23007702" target="_blank">23007702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38667304">Exploring Potential Mechanisms Accounting for Iron Accumulation in the Central Nervous System of Patients with Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LeVine SM</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2024 Apr 16;13(8)
|
||
doi: 10.3390/cells13080689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38667304" target="_blank">38667304</a><a href="/pmc/articles/PMC11049304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38291840">Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amini E,
|
||
Rohani M,
|
||
Lang AE,
|
||
Azad Z,
|
||
Habibi SAH,
|
||
Alavi A,
|
||
Shahidi G,
|
||
Emamikhah M,
|
||
Chitsaz A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jan;11(1):53-62.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1002/mdc3.13933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38291840" target="_blank">38291840</a><a href="/pmc/articles/PMC10828622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30633810">Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vloo P,
|
||
Lee DJ,
|
||
Dallapiazza RF,
|
||
Rohani M,
|
||
Fasano A,
|
||
Munhoz RP,
|
||
Ibrahim GM,
|
||
Hodaie M,
|
||
Lozano AM,
|
||
Kalia SK</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 Feb;34(2):264-273.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1002/mds.27563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30633810" target="_blank">30633810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30340910">PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darling A,
|
||
Aguilera-Albesa S,
|
||
Tello CA,
|
||
Serrano M,
|
||
Tomás M,
|
||
Camino-León R,
|
||
Fernández-Ramos J,
|
||
Jiménez-Escrig A,
|
||
Poó P,
|
||
O'Callaghan M,
|
||
Ortez C,
|
||
Nascimento A,
|
||
Fernández Mesaque RC,
|
||
Madruga M,
|
||
Arrabal L,
|
||
Roldan S,
|
||
Gómez-Martín H,
|
||
Garrido C,
|
||
Temudo T,
|
||
Jou-Muñoz C,
|
||
Muchart J,
|
||
Huisman TAGM,
|
||
Poretti A,
|
||
Lupo V,
|
||
Espinós C,
|
||
Pérez-Dueñas B</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:179-186.
|
||
Epub 2018 Oct 13
|
||
doi: 10.1016/j.parkreldis.2018.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30340910" target="_blank">30340910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12456078">Recent developments in the pathology of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jellinger KA</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm Suppl</span>
|
||
2002;(62):347-76.
|
||
doi: 10.1007/978-3-7091-6139-5_33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12456078" target="_blank">12456078</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39206899">Understanding the Mechanism of Ferroptosis in Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma J,
|
||
Liu J,
|
||
Chen S,
|
||
Zhang W,
|
||
Wang T,
|
||
Cao M,
|
||
Yang Y,
|
||
Du Y,
|
||
Cui G,
|
||
Du Z</span><br />
|
||
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
|
||
2024 Aug 20;29(8):291.
|
||
doi: 10.31083/j.fbl2908291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39206899" target="_blank">39206899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38673855">The Irony of Iron: The Element with Diverse Influence on Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Kovacs GG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 12;25(8)
|
||
doi: 10.3390/ijms25084269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38673855" target="_blank">38673855</a><a href="/pmc/articles/PMC11049980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36790591">Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sait H,
|
||
Srivastava S,
|
||
Pandey M,
|
||
Ravichandran D,
|
||
Shukla A,
|
||
Mandal K,
|
||
Saxena D,
|
||
Shambhavi A,
|
||
Majethia P,
|
||
Rao LP,
|
||
Sharma S,
|
||
Phadke SR,
|
||
Moirangthem A</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2023 Apr;24(2):113-127.
|
||
Epub 2023 Feb 15
|
||
doi: 10.1007/s10048-023-00712-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36790591" target="_blank">36790591</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30340910">PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darling A,
|
||
Aguilera-Albesa S,
|
||
Tello CA,
|
||
Serrano M,
|
||
Tomás M,
|
||
Camino-León R,
|
||
Fernández-Ramos J,
|
||
Jiménez-Escrig A,
|
||
Poó P,
|
||
O'Callaghan M,
|
||
Ortez C,
|
||
Nascimento A,
|
||
Fernández Mesaque RC,
|
||
Madruga M,
|
||
Arrabal L,
|
||
Roldan S,
|
||
Gómez-Martín H,
|
||
Garrido C,
|
||
Temudo T,
|
||
Jou-Muñoz C,
|
||
Muchart J,
|
||
Huisman TAGM,
|
||
Poretti A,
|
||
Lupo V,
|
||
Espinós C,
|
||
Pérez-Dueñas B</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:179-186.
|
||
Epub 2018 Oct 13
|
||
doi: 10.1016/j.parkreldis.2018.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30340910" target="_blank">30340910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28792913">Iron in neurodegenerative disorders: being in the wrong place at the wrong time?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apostolakis S,
|
||
Kypraiou AM</span><br />
|
||
<span class="medgenPMjournal">Rev Neurosci</span>
|
||
2017 Nov 27;28(8):893-911.
|
||
doi: 10.1515/revneuro-2017-0020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28792913" target="_blank">28792913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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 (26)</a></div></div>
|
||
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|
||
|
||
<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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067244">Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emamikhah M,
|
||
Saiyarsarai P,
|
||
Schneider SA,
|
||
Fasano A,
|
||
Mohammadzadeh N,
|
||
Rohani M</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2023 Jan;50(1):60-71.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1017/cjn.2021.502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067244" target="_blank">35067244</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%208%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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</div>
|
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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=C4693587%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693587%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693587%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693587%5bDISCUI%5d" target="_blank">See all (6)</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=617917" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodegeneration%20with%20brain%20iron%20accumulation%208" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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