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<meta name="keywords" content="C1847640, atp13a2, autosomal recessive juvenile onset parkinson disease 9, autosomal recessive parkinson disease 9, ceroid lipofuscinosis, neuronal, 12, disease or syndrome, krppd, krppd kufor rakeb pallidopyramidal degeneration with supranuclear upgaze paresis and dementia, krs, kufor rakeb syndrome, kufor-rakeb syndrome, pallidopyramidal degeneration with supranuclear upgaze paresis and dementia, pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia, park 9, park9, park9 - parkinson disease 9, parkinson disease 9, parkinson disease 9, autosomal recessive, parkinson disease 9, autosomal recessive, juvenile-onset, parkinson disease type 9, 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="Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017)." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=338281
|
||
ConceptID=C1847640
|
||
-->
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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/NBK121988/bin/nbia-ov-Image001.gif" src-large="/books/NBK121988/bin/nbia-ov-Image001.jpg" /></a><br /><a href="/books/NBK121988/figure/nbia-ov.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Kufor-Rakeb syndrome<span class="h1sub">(KRS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338281</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.">C1847640</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>KRS; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; Park 9; PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Kufor Rakeb syndrome (723992000); PARK9 - Parkinson disease 9 (723992000); Parkinson disease 9 (723992000)</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="ATP13A2 - ID: 23400 - NCBI Gene" href="/gene/23400" class="medgenPMinfo">ATP13A2</a> (1p36.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011706" target="_blank">MONDO:0011706</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606693" target="_blank">606693</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306674">ORPHA306674</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<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_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</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.">C0015672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1950"><div><strong>Anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1950</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.">C0003126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1950">Feature record</a> | <a href="/medgen?term=%22Anosmia%22%5BClinical%20Features%5D%20OR%201950%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6709"><div><strong>Hallucinations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6709</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.">C0018524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6709">Feature record</a> | <a href="/medgen?term=%22Hallucinations%22%5BClinical%20Features%5D%20OR%206709%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</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.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20882"><div><strong>Spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20882</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.">C0037772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity and weakness of the leg and hip muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20882">Feature record</a> | <a href="/medgen?term=%22Spastic%20paraplegia%22%5BClinical%20Features%5D%20OR%2020882%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11859"><div><strong>Torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11859</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.">C0040485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11859">Feature record</a> | <a href="/medgen?term=%22Torticollis%22%5BClinical%20Features%5D%20OR%2011859%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_43218"><div><strong>Akinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43218</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.">C0085623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43218">Feature record</a> | <a href="/medgen?term=%22Akinesia%22%5BClinical%20Features%5D%20OR%2043218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39223"><div><strong>Hypokinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39223</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.">C0086439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39223">Feature record</a> | <a href="/medgen?term=%22Hypokinesia%22%5BClinical%20Features%5D%20OR%2039223%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_113150"><div><strong>Paraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113150</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.">C0221166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness or partial paralysis in the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113150">Feature record</a> | <a href="/medgen?term=%22Paraparesis%22%5BClinical%20Features%5D%20OR%20113150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68604"><div><strong>Anarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68604</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.">C0234517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect in the motor ability that enables speech.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68604">Feature record</a> | <a href="/medgen?term=%22Anarthria%22%5BClinical%20Features%5D%20OR%2068604%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90930"><div><strong>Psychotic episodes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90930</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.">C0338614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90930">Feature record</a> | <a href="/medgen?term=%22Psychotic%20episodes%22%5BClinical%20Features%5D%20OR%2090930%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155866"><div><strong>Palmomental reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155866</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.">C0751470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155866">Feature record</a> | <a href="/medgen?term=%22Palmomental%20reflex%22%5BClinical%20Features%5D%20OR%20155866%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_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</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.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473584"><div><strong>Hyposmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473584</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.">C2364082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473584">Feature record</a> | <a href="/medgen?term=%22Hyposmia%22%5BClinical%20Features%5D%20OR%20473584%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382164"><div><strong>Brisk reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382164</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.">C2673700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382164">Feature record</a> | <a href="/medgen?term=%22Brisk%20reflexes%22%5BClinical%20Features%5D%20OR%20382164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870176"><div><strong>Leg muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870176</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.">C4024610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870176">Feature record</a> | <a href="/medgen?term=%22Leg%20muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20870176%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140860"><div><strong>Mask-like facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140860</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.">C0424448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of facial expression often with staring eyes and a slightly open mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140860">Feature record</a> | <a href="/medgen?term=%22Mask-like%20facies%22%5BClinical%20Features%5D%20OR%20140860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_232942"><div><strong>Slow saccadic eye movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232942</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.">C1321329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally slow velocity of the saccadic eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/232942">Feature record</a> | <a href="/medgen?term=%22Slow%20saccadic%20eye%20movements%22%5BClinical%20Features%5D%20OR%20232942%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314030"><div><strong>Supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314030</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.">C1720037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314030">Feature record</a> | <a href="/medgen?term=%22Supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20314030%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mask-like facies</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_232942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slow saccadic eye movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear gaze palsy</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_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leg muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Akinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_382164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brisk reflexes</a></span></li><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_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallucinations</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_39223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyposmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmomental reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paraparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic episodes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis</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></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="matched_ds"><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">Kufor-Rakeb syndrome</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="TLclosed"><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"><a href="/medgen/1645224" ref="tree=GTR&ncbi_uid=1645224&link_uid=1645224" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 8'">Neurodegeneration with brain iron accumulation 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=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/1842320" ref="tree=MeSH" title="MedGen record for ATP13A2-related parkinsonism">ATP13A2-related parkinsonism</a></span><ul><li><span class="matched_ds">Kufor-Rakeb syndrome</span><ul><li><span class="TLline"><a href="/medgen/830971" ref="tree=MeSH" title="MedGen record for Parkinsonism due to ATP13A2 deficiency">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21249&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Kufor-Rakeb syndrome</span> in Orphanet.</div></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/34363531">Pallidal degenerations and related disorders: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jellinger KA</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
||
2022 Jun;129(5-6):521-543.
|
||
Epub 2021 Aug 7
|
||
doi: 10.1007/s00702-021-02392-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34363531" target="_blank">34363531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31996848">ATP13A2 deficiency disrupts lysosomal polyamine export.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Veen S,
|
||
Martin S,
|
||
Van den Haute C,
|
||
Benoy V,
|
||
Lyons J,
|
||
Vanhoutte R,
|
||
Kahler JP,
|
||
Decuypere JP,
|
||
Gelders G,
|
||
Lambie E,
|
||
Zielich J,
|
||
Swinnen JV,
|
||
Annaert W,
|
||
Agostinis P,
|
||
Ghesquière B,
|
||
Verhelst S,
|
||
Baekelandt V,
|
||
Eggermont J,
|
||
Vangheluwe P</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Feb;578(7795):419-424.
|
||
Epub 2020 Jan 29
|
||
doi: 10.1038/s41586-020-1968-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31996848" target="_blank">31996848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ysselstein D,
|
||
Shulman JM,
|
||
Krainc D</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):614-624.
|
||
Epub 2019 Feb 6
|
||
doi: 10.1002/mds.27631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30726573" target="_blank">30726573</a><a href="/pmc/articles/PMC6520126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25973518">Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer E,
|
||
Kurian MA,
|
||
Hayflick SJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genomics Hum Genet</span>
|
||
2015;16:257-79.
|
||
Epub 2015 May 8
|
||
doi: 10.1146/annurev-genom-090314-025011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25973518" target="_blank">25973518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22515743">PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNeill A</span><br />
|
||
<span class="medgenPMjournal">Curr Drug Targets</span>
|
||
2012 Aug;13(9):1204-6.
|
||
doi: 10.2174/138945012802002401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22515743" target="_blank">22515743</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34363531">Pallidal degenerations and related disorders: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jellinger KA</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
||
2022 Jun;129(5-6):521-543.
|
||
Epub 2021 Aug 7
|
||
doi: 10.1007/s00702-021-02392-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34363531" target="_blank">34363531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ysselstein D,
|
||
Shulman JM,
|
||
Krainc D</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):614-624.
|
||
Epub 2019 Feb 6
|
||
doi: 10.1002/mds.27631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30726573" target="_blank">30726573</a><a href="/pmc/articles/PMC6520126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23791710">Biomarkers in Parkinson's disease (recent update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
|
||
Moon CS,
|
||
Khogali A,
|
||
Haidous A,
|
||
Chabenne A,
|
||
Ojo C,
|
||
Jelebinkov M,
|
||
Kurdi Y,
|
||
Ebadi M</span><br />
|
||
<span class="medgenPMjournal">Neurochem Int</span>
|
||
2013 Sep;63(3):201-29.
|
||
Epub 2013 Jun 19
|
||
doi: 10.1016/j.neuint.2013.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23791710" target="_blank">23791710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19085912">ATP13A2 variability in Parkinson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilariño-Güell C,
|
||
Soto AI,
|
||
Lincoln SJ,
|
||
Ben Yahmed S,
|
||
Kefi M,
|
||
Heckman MG,
|
||
Hulihan MM,
|
||
Chai H,
|
||
Diehl NN,
|
||
Amouri R,
|
||
Rajput A,
|
||
Mash DC,
|
||
Dickson DW,
|
||
Middleton LT,
|
||
Gibson RA,
|
||
Hentati F,
|
||
Farrer MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Mar;30(3):406-10.
|
||
doi: 10.1002/humu.20877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19085912" target="_blank">19085912</a><a href="/pmc/articles/PMC2650009" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17620882">Impact of recent genetic findings in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Lohmann-Hedrich K</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2007 Aug;20(4):453-64.
|
||
doi: 10.1097/WCO.0b013e3281e6692b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17620882" target="_blank">17620882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39023817">Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colijn MA,
|
||
Vrijsen S,
|
||
Au PYB,
|
||
Abou El Asrar R,
|
||
Houdou M,
|
||
Van den Haute C,
|
||
Sarna J,
|
||
Montgomery G,
|
||
Vangheluwe P</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2024 Oct;25(4):405-415.
|
||
Epub 2024 Jul 18
|
||
doi: 10.1007/s10048-024-00767-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39023817" target="_blank">39023817</a><a href="/pmc/articles/PMC11534834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31232173">Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNeil-Gauthier AL,
|
||
Brais B,
|
||
Rouleau G,
|
||
Anoja N,
|
||
Ducharme S</span><br />
|
||
<span class="medgenPMjournal">Neurocase</span>
|
||
2019 Jun-Aug;25(3-4):133-137.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1080/13554794.2019.1625928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31232173" target="_blank">31232173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20669327">Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paisán-Ruiz C,
|
||
Guevara R,
|
||
Federoff M,
|
||
Hanagasi H,
|
||
Sina F,
|
||
Elahi E,
|
||
Schneider SA,
|
||
Schwingenschuh P,
|
||
Bajaj N,
|
||
Emre M,
|
||
Singleton AB,
|
||
Hardy J,
|
||
Bhatia KP,
|
||
Brandner S,
|
||
Lees AJ,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2010 Sep 15;25(12):1791-800.
|
||
doi: 10.1002/mds.23221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20669327" target="_blank">20669327</a><a href="/pmc/articles/PMC6005705" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8085432">Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Najim al-Din AS,
|
||
Wriekat A,
|
||
Mubaidin A,
|
||
Dasouki M,
|
||
Hiari M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1994 May;89(5):347-52.
|
||
doi: 10.1111/j.1600-0404.1994.tb02645.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8085432" target="_blank">8085432</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</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/24420862">Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao K,
|
||
Song Z,
|
||
Liang H,
|
||
Zheng W,
|
||
Deng X,
|
||
Yuan Y,
|
||
Zhao Y,
|
||
Deng H</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2014;41(4):2307-11.
|
||
Epub 2014 Jan 14
|
||
doi: 10.1007/s11033-014-3084-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24420862" target="_blank">24420862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23791710">Biomarkers in Parkinson's disease (recent update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
|
||
Moon CS,
|
||
Khogali A,
|
||
Haidous A,
|
||
Chabenne A,
|
||
Ojo C,
|
||
Jelebinkov M,
|
||
Kurdi Y,
|
||
Ebadi M</span><br />
|
||
<span class="medgenPMjournal">Neurochem Int</span>
|
||
2013 Sep;63(3):201-29.
|
||
Epub 2013 Jun 19
|
||
doi: 10.1016/j.neuint.2013.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23791710" target="_blank">23791710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21724849">Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan J,
|
||
Zhang T,
|
||
Jiang L,
|
||
Chi J,
|
||
Hu D,
|
||
Pan Q,
|
||
Wang D,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2011 Aug 26;286(34):29654-62.
|
||
Epub 2011 Jul 1
|
||
doi: 10.1074/jbc.M111.233874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21724849" target="_blank">21724849</a><a href="/pmc/articles/PMC3191006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20669327">Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paisán-Ruiz C,
|
||
Guevara R,
|
||
Federoff M,
|
||
Hanagasi H,
|
||
Sina F,
|
||
Elahi E,
|
||
Schneider SA,
|
||
Schwingenschuh P,
|
||
Bajaj N,
|
||
Emre M,
|
||
Singleton AB,
|
||
Hardy J,
|
||
Bhatia KP,
|
||
Brandner S,
|
||
Lees AJ,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2010 Sep 15;25(12):1791-800.
|
||
doi: 10.1002/mds.23221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20669327" target="_blank">20669327</a><a href="/pmc/articles/PMC6005705" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37947042">Neurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amini E,
|
||
Rohani M,
|
||
Fasano A,
|
||
Azad Z,
|
||
Miri S,
|
||
Habibi SAH,
|
||
Emamikhah M,
|
||
Mirshahi R,
|
||
Joghataei MT,
|
||
Gholibeigian Z,
|
||
Ghasemi Falavarjani K</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2024 Feb;39(2):411-423.
|
||
Epub 2023 Nov 10
|
||
doi: 10.1002/mds.29644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37947042" target="_blank">37947042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31132336">The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcos AL,
|
||
Corradi GR,
|
||
Mazzitelli LR,
|
||
Casali CI,
|
||
Fernández Tome MDC,
|
||
Adamo HP,
|
||
de Tezanos Pinto F</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Biomembr</span>
|
||
2019 Oct 1;1861(10):182993.
|
||
Epub 2019 May 24
|
||
doi: 10.1016/j.bbamem.2019.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31132336" target="_blank">31132336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27039055">Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JS,
|
||
Koentjoro B,
|
||
Davis RL,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2016 Jun;27:67-73.
|
||
Epub 2016 Mar 22
|
||
doi: 10.1016/j.parkreldis.2016.03.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27039055" target="_blank">27039055</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21696388">Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eiberg H,
|
||
Hansen L,
|
||
Korbo L,
|
||
Nielsen IM,
|
||
Svenstrup K,
|
||
Bech S,
|
||
Pinborg LH,
|
||
Friberg L,
|
||
Hjermind LE,
|
||
Olsen OR,
|
||
Nielsen JE</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2012 Sep;82(3):256-63.
|
||
Epub 2011 Jul 18
|
||
doi: 10.1111/j.1399-0004.2011.01745.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21696388" target="_blank">21696388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11584046">Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hampshire DJ,
|
||
Roberts E,
|
||
Crow Y,
|
||
Bond J,
|
||
Mubaidin A,
|
||
Wriekat AL,
|
||
Al-Din A,
|
||
Woods CG</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2001 Oct;38(10):680-2.
|
||
doi: 10.1136/jmg.38.10.680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11584046" target="_blank">11584046</a><a href="/pmc/articles/PMC1734748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ysselstein D,
|
||
Shulman JM,
|
||
Krainc D</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):614-624.
|
||
Epub 2019 Feb 6
|
||
doi: 10.1002/mds.27631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30726573" target="_blank">30726573</a><a href="/pmc/articles/PMC6520126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kufor-Rakeb%20syndrome%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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|
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|
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|
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|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1847640%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847640%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (50)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847640%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1847640%5bDISCUI%5d" target="_blank">See all (56)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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|
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