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<meta name="keywords" content="C1857747, anad, atypical neuroaxonal dystrophy, atypical neuroaxonal dystrophy (anad), disease or syndrome, early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline, karak syndrome, nbia2b, neuroaxonal dystrophy, atypical, neurodegeneration with brain iron accumulation 2b, neurodegeneration with brain iron accumulation type 2b, neurodegeneration with brain iron accumulation, pla2g6-related, pla2g6, 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="PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Neurodegeneration with brain iron accumulation 2B (Concept Id: C1857747)
- MedGen - NCBI</title>
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<!--
UID=346658
ConceptID=C1857747
-->
<!--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/NBK1675/bin/inad-Image001.gif" src-large="/books/NBK1675/bin/inad-Image001.jpg" /></a><br /><a href="/books/NBK1675/figure/inad.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodegeneration with brain iron accumulation 2B<span class="h1sub">(NBIA2B)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346658</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1857747</span></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>aNAD; atypical Neuroaxonal Dystrophy (aNAD); NEUROAXONAL DYSTROPHY, ATYPICAL; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED</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="PLA2G6 - ID: 8398 - NCBI Gene" href="/gene/8398" class="medgenPMinfo">PLA2G6</a> (22q13.1)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012444" target="_blank">MONDO:0012444</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/610217" target="_blank">610217</a></td></tr>
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<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1675" target="_blank">PLA2G6-Associated Neurodegeneration</a></div><div>PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1675#inad.Summary" target="NBK1675">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.GeneReview_Scope" target="NBK1675">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Diagnosis" target="NBK1675">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Clinical_Characteristics" target="NBK1675">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Genetically_Related_Allelic_Disorde" target="NBK1675">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Differential_Diagnosis" target="NBK1675">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Management" target="NBK1675">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Genetic_Counseling" target="NBK1675">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Resources" target="NBK1675">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Molecular_Genetics" target="NBK1675">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.Chapter_Notes" target="NBK1675">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1675#inad.References" target="NBK1675">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Allison Gregory  |  Manju A Kurian  |  Eamonn R Maher<i>, et. al.</i>   <a href="/books/NBK1675" target="NBK1675" title="NCBI Bookshelf: PLA2G6-Associated Neurodegeneration">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_56270"><div><strong>Talipes calcaneovalgus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56270</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)&#10;Click for more information.">C0152237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56270">Feature record</a> | <a href="/medgen?term=%22Talipes%20calcaneovalgus%22%5BClinical%20Features%5D%20OR%2056270%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)&#10;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_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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)&#10;Click for more information.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3420"><div><strong>Chorea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3420</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)&#10;Click for more information.">C0008489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3420">Feature record</a> | <a href="/medgen?term=%22Chorea%22%5BClinical%20Features%5D%20OR%203420%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)&#10;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)&#10;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_43850"><div><strong>Impulsivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43850</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)&#10;Click for more information.">C0021125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43850">Feature record</a> | <a href="/medgen?term=%22Impulsivity%22%5BClinical%20Features%5D%20OR%2043850%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)&#10;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_17999"><div><strong>Neurodegeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>17999</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)&#10;Click for more information.">C0027746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Progressive loss of neural cells and tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/17999">Feature record</a> | <a href="/medgen?term=%22Neurodegeneration%22%5BClinical%20Features%5D%20OR%2017999%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)&#10;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)&#10;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_43126"><div><strong>Lewy bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43126</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)&#10;Click for more information.">C0085200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell Component</dd></dl></div></div></div>
<div class="spaceAbove">Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Lewy%20bodies%22%5BClinical%20Features%5D%20OR%2043126%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39273"><div><strong>Neurofibrillary tangles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39273</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39273">Feature record</a> | <a href="/medgen?term=%22Neurofibrillary%20tangles%22%5BClinical%20Features%5D%20OR%2039273%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_115975"><div><strong>Dysdiadochokinesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115975</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)&#10;Click for more information.">C0234979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115975">Feature record</a> | <a href="/medgen?term=%22Dysdiadochokinesis%22%5BClinical%20Features%5D%20OR%20115975%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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)&#10;Click for more information.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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)&#10;Click for more information.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82652"><div><strong>Short attention span</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82652</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)&#10;Click for more information.">C0262630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced attention span characterized by distractibility and impulsivity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82652">Feature record</a> | <a href="/medgen?term=%22Short%20attention%20span%22%5BClinical%20Features%5D%20OR%2082652%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</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)&#10;Click for more information.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1642960"><div><strong>Intention tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642960</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)&#10;Click for more information.">C4551520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642960">Feature record</a> | <a href="/medgen?term=%22Intention%20tremor%22%5BClinical%20Features%5D%20OR%201642960%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)&#10;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_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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)&#10;Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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)&#10;Click for more information.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_325176"><div><strong>Impaired smooth pursuit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325176</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1837458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/325176">Feature record</a> | <a href="/medgen?term=%22Impaired%20smooth%20pursuit%22%5BClinical%20Features%5D%20OR%20325176%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Talipes calcaneovalgus</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired smooth pursuit</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</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></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_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_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_115975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysdiadochokinesis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulsivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intention tremor</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lewy bodies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_17999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibrillary tangles</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_82652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short attention span</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></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931845[DISCUI]&amp;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&amp;from_uid=444156" ref="ncbi_uid=444156">V</a></span></span><span class="TLline"><a href="/medgen/444156" ref="tree=GTR&amp;ncbi_uid=444156&amp;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]&amp;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]&amp;test_type=Research&amp;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&amp;showtype=onebook" ref="ncbi_uid=168057">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=168057" ref="ncbi_uid=168057">V</a></span></span><span class="TLline"><a href="/medgen/168057" ref="tree=GTR&amp;ncbi_uid=168057&amp;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]&amp;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&amp;from_uid=934634" ref="ncbi_uid=934634">V</a></span></span><span class="TLline"><a href="/medgen/934634" ref="tree=GTR&amp;ncbi_uid=934634&amp;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]&amp;test_type=Clinical&amp;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&amp;ncbi_uid=777150&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=501249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=501249" ref="ncbi_uid=501249">V</a></span></span><span class="TLline"><a href="/medgen/501249" ref="tree=GTR&amp;ncbi_uid=501249&amp;link_uid=501249" title="View MedGen record for 'Hereditary spastic paraplegia 35'">Hereditary spastic paraplegia 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847640[DISCUI]&amp;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&amp;showtype=onebook" ref="ncbi_uid=338281">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=338281" ref="ncbi_uid=338281">V</a></span></span><span class="TLline"><a href="/medgen/338281" ref="tree=GTR&amp;ncbi_uid=338281&amp;link_uid=338281" title="View MedGen record for 'Kufor-Rakeb syndrome'">Kufor-Rakeb syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/830971" ref="tree=GTR&amp;ncbi_uid=830971&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=482001">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=482001" ref="ncbi_uid=482001">V</a></span></span><span class="TLline"><a href="/medgen/482001" ref="tree=GTR&amp;ncbi_uid=482001&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=763887">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=763887" ref="ncbi_uid=763887">V</a></span></span><span class="TLline"><a href="/medgen/763887" ref="tree=GTR&amp;ncbi_uid=763887&amp;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]&amp;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&amp;from_uid=1387791" ref="ncbi_uid=1387791">V</a></span></span><span class="TLline"><a href="/medgen/1387791" ref="tree=GTR&amp;ncbi_uid=1387791&amp;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]&amp;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&amp;from_uid=1647672" ref="ncbi_uid=1647672">V</a></span></span><span class="TLline"><a href="/medgen/1647672" ref="tree=GTR&amp;ncbi_uid=1647672&amp;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]&amp;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&amp;from_uid=1645224" ref="ncbi_uid=1645224">V</a></span></span><span class="TLline"><a href="/medgen/1645224" ref="tree=GTR&amp;ncbi_uid=1645224&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=381211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=381211" ref="ncbi_uid=381211">V</a></span></span><span class="TLline"><a href="/medgen/381211" ref="tree=GTR&amp;ncbi_uid=381211&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=6708">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=6708" ref="ncbi_uid=6708">V</a></span></span><span class="TLline"><a href="/medgen/6708" ref="tree=GTR&amp;ncbi_uid=6708&amp;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&amp;ncbi_uid=1800044&amp;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]&amp;test_type=Research&amp;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&amp;ncbi_uid=1826057&amp;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]&amp;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&amp;from_uid=831067" ref="ncbi_uid=831067">V</a></span></span><span class="TLline"><a href="/medgen/831067" ref="tree=GTR&amp;ncbi_uid=831067&amp;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]&amp;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&amp;from_uid=414488" ref="ncbi_uid=414488">V</a></span></span><span class="TLline"><a href="/medgen/414488" ref="tree=GTR&amp;ncbi_uid=414488&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=82852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82852" ref="ncbi_uid=82852">V</a></span></span><span class="TLline"><a href="/medgen/82852" ref="tree=GTR&amp;ncbi_uid=82852&amp;link_uid=82852" title="View MedGen record for 'Infantile neuroaxonal dystrophy'">Infantile neuroaxonal dystrophy</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=C1857747[DISCUI]&amp;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&amp;from_uid=346658" ref="ncbi_uid=346658">V</a></span></span><span class="TLline">Neurodegeneration with brain iron accumulation 2B</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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=83337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=83337" ref="ncbi_uid=83337">V</a></span></span><span class="TLline"><a href="/medgen/83337" ref="tree=GTR&amp;ncbi_uid=83337&amp;link_uid=83337" title="View MedGen record for 'Woodhouse-Sakati syndrome'">Woodhouse-Sakati syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/444156" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation">Neurodegeneration with brain iron accumulation</a></span><ul><li><span class="TLline"><a href="/medgen/831067" ref="tree=MeSH" title="MedGen record for PLA2G6-associated neurodegeneration">PLA2G6-associated neurodegeneration</a></span><ul><li><span class="matched_ds">Neurodegeneration with brain iron accumulation 2B</span></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37285793">A systematic analysis of genotype-phenotype associations with PLA2G6.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xue J,
Ding DX,
Xu GY,
Wang PZ,
Ge YL,
Zhang JR,
Cheng XY,
Wang YM,
Jin H,
Luo SY,
Zheng YH,
Chen J,
Wang F,
Li D,
Mao CJ,
Li K,
Liu CF</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2023 Jul;112:105477.
Epub 2023 Jun 1
doi: 10.1016/j.parkreldis.2023.105477.
<span class="bold">PMID: </span><a href="/pubmed/37285793" target="_blank">37285793</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodegeneration%20with%20brain%20iron%20accumulation%202b)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
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<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/30302010">PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koh K,
Ichinose Y,
Ishiura H,
Nan H,
Mitsui J,
Takahashi J,
Sato W,
Itoh Y,
Hoshino K,
Tsuji S,
Takiyama Y;
Japan Spastic Paraplegia Research Consotium</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2019 Jan;64(1):55-59.
Epub 2018 Oct 9
doi: 10.1038/s10038-018-0519-7.
<span class="bold">PMID: </span><a href="/pubmed/30302010" target="_blank">30302010</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodegeneration%20with%20brain%20iron%20accumulation%202B%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 (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1857747%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (36)</a></li>
<li><a href="/gtr/tests?term=C1857747%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
<li><a href="/gtr/tests?term=C1857747%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
<li><a href="/gtr/tests?term=C1857747%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857747%5bDISCUI%5d" target="_blank">See all (46)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=610217" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodegeneration%20with%20brain%20iron%20accumulation%202B" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodegeneration%20with%20brain%20iron%20accumulation%202b)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=603604" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8398[geneid]" target="_blank">View PLA2G6 variations in ClinVar</a></li><li><a href="/nuccore/160358371" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610217" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Neurodegeneration+with+brain+iron+accumulation+2b/8997" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/neurodegeneration_with_brain_iron_accumulation_2b" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Neurodegeneration%20with%20brain%20iron%20accumulation%202B" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10688/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301718" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Neurodegeneration%20with%20brain%20iron%20accumulation%202B" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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