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<meta name="keywords" content="C1846707, cerebelloparenchymal disorder ii, cpd, late-onset recessive type, cpd2, disease or syndrome, hdl4, hdl4 huntington disease-like 4, huntington disease-like 4, olivopontocerebellar atrophy 5, olivopontocerebellar atrophy type 5, olivopontocerebellar atrophy v, opca v, opca with dementia and extrapyramidal signs, opca5, sca 17, sca17, sca17 spinocerebellar ataxia 17, spinocerebellar ataxia 17, spinocerebellar ataxia type 17, spinocerebellar ataxia type17, tbp, 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="Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=337637
|
||
ConceptID=C1846707
|
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1438/bin/sca17-Image001.gif" src-large="/books/NBK1438/bin/sca17-Image001.jpg" /></a><br /><a href="/books/NBK1438/figure/sca17.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1438/bin/sca17-Image003.gif" src-large="/books/NBK1438/bin/sca17-Image003.jpg" /></a><br /><a href="/books/NBK1438/figure/sca17.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1438/bin/sca17-Image002.gif" src-large="/books/NBK1438/bin/sca17-Image002.jpg" /></a><br /><a href="/books/NBK1438/figure/sca17.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar ataxia type 17<span class="h1sub">(SCA17)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337637</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."><span class="highlight" style="background-color:">C1846707</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>Cerebelloparenchymal disorder II; HUNTINGTON DISEASE-LIKE 4; Olivopontocerebellar atrophy 5; Olivopontocerebellar atrophy V; SCA 17; SCA17; Spinocerebellar Ataxia Type17</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Spinocerebellar ataxia type 17 (719249005); Huntington disease-like 4 (719249005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="TBP - ID: 6908 - NCBI Gene" href="/gene/6908" class="medgenPMinfo">TBP</a> (6q27)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011781" target="_blank">MONDO:0011781</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607136" target="_blank">607136</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=98759">ORPHA98759</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />SCA17 is a neurologic disorder characterized by cerebellar ataxia, pyramidal and extrapyramidal signs, cognitive impairment, psychosis, and seizures. Most patients have onset of symptoms after age 30, although earlier onset has been reported. The clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100) (Gao et al., 2008).
|
||
SCA17 shows a complex pattern of inheritance, including autosomal dominant, autosomal dominant with incomplete penetrance, and digenic (see MOLECULAR GENETICS) depending on the size of the TBP repeat expansion. Unaffected individuals have between 25 and 41 CAG/CAA repeats in the TBP gene. Alleles with 47 or more CAG/CAA repeats are fully penetrant for SCA17. Alleles with 'intermediate expansions' between 41 and 46 repeats show incomplete penetrance. However, patients with intermediate TBP expanded alleles in combination with heterozygous mutations in the STUB1 gene (607207) demonstrate full penetrance of the disease, suggesting that intermediate SCA17 is actually a digenic disease and may represent the same entity as SCA48 (618093), which has a similar phenotype (Magri et al., 2022). Rarely, SCA17 has been found to be caused by homozygous or compound heterozygous TBP repeat expansions, consistent with autosomal recessive inheritance.
|
||
For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (164400). <a target="_blank" href="http://www.omim.org/entry/607136">http://www.omim.org/entry/607136</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Huntington's disease-like (HDL) is a group of related neurological conditions. As the name suggests, HDLs resembles Huntington's disease. HDLs and Huntington's disease are both characterized by uncontrolled movements, emotional problems, and loss of thinking ability. In both conditions these signs and symptoms worsen over time. HDLs occurs in people with the characteristic features of Huntington's disease who do not have a variant (also called mutation) in the gene typically associated with that disorder. Researchers have described four HDLs that are designated Huntington's disease-like 1 (HDL1) through Huntington's disease-like 4 (HDL4). Sometimes, HDL4 is also known as spinocerebellar ataxia type 17 (SCA17).<br /><br />HDL1, HDL2, and HDL4 usually begin in early to mid-adulthood, although they can start earlier or later. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements (dyskinesia), poor coordination, and trouble learning new information or making decisions. Many people with an HDL develop involuntary jerking or twitching movements known as chorea. Over time, these abnormal movements worsen. Affected individuals may develop problems with walking (bradykinesia), speaking (dysarthria), and swallowing (dysphagia). People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities (dementia). Individuals with an HDL syndrome can live for 10 to 20 years after signs and symptoms begin, though this can vary between the types of HDL syndromes.<br /><br />HDL3 begins much earlier in life than the other HDLs (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has some different signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDLs. <a target="_blank" href="https://medlineplus.gov/genetics/condition/huntingtons-disease-like">https://medlineplus.gov/genetics/condition/huntingtons-disease-like</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_22579"><div><strong>Urinary incontinence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22579</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.">C0042024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of the ability to control the urinary bladder leading to involuntary urination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/22579">Feature record</a> | <a href="/medgen?term=%22Urinary%20incontinence%22%5BClinical%20Features%5D%20OR%2022579%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_8166"><div><strong>Apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8166</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.">C0003635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8166">Feature record</a> | <a href="/medgen?term=%22Apraxia%22%5BClinical%20Features%5D%20OR%208166%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_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) 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_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</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.">C0009676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%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_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%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_6476"><div><strong>Mutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6476</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.">C0026884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6476">Feature record</a> | <a href="/medgen?term=%22Mutism%22%5BClinical%20Features%5D%20OR%206476%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_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_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_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_536043"><div><strong>Anosognosia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536043</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.">C0234507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/536043">Feature record</a> | <a href="/medgen?term=%22Anosognosia%22%5BClinical%20Features%5D%20OR%20536043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66017"><div><strong>Positive Romberg sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66017</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.">C0240914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66017">Feature record</a> | <a href="/medgen?term=%22Positive%20Romberg%20sign%22%5BClinical%20Features%5D%20OR%2066017%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_572577"><div><strong>Frontal lobe dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>572577</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.">C0338455</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/572577">Feature record</a> | <a href="/medgen?term=%22Frontal%20lobe%20dementia%22%5BClinical%20Features%5D%20OR%20572577%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_108958"><div><strong>Diffuse cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108958</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.">C0598275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse unlocalised atrophy affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108958">Feature record</a> | <a href="/medgen?term=%22Diffuse%20cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20108958%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196692"><div><strong>Limb ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196692</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.">C0750937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of ataxia that affects movements of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196692">Feature record</a> | <a href="/medgen?term=%22Limb%20ataxia%22%5BClinical%20Features%5D%20OR%20196692%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) 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_167799"><div><strong>Broad-based gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167799</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.">C0856863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167799">Feature record</a> | <a href="/medgen?term=%22Broad-based%20gait%22%5BClinical%20Features%5D%20OR%20167799%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_306130"><div><strong>Paranoia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>306130</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.">C1456784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/306130">Feature record</a> | <a href="/medgen?term=%22Paranoia%22%5BClinical%20Features%5D%20OR%20306130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318834"><div><strong>Frontal release signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318834</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.">C1833297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318834">Feature record</a> | <a href="/medgen?term=%22Frontal%20release%20signs%22%5BClinical%20Features%5D%20OR%20318834%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%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) 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_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_370086"><div><strong>Impaired pursuit initiation and maintenance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370086</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.">C1969722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370086">Feature record</a> | <a href="/medgen?term=%22Impaired%20pursuit%20initiation%20and%20maintenance%22%5BClinical%20Features%5D%20OR%20370086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1808161"><div><strong>Gaze-evoked nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808161</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.">C5574666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus made apparent by looking to the right or to the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808161">Feature record</a> | <a href="/medgen?term=%22Gaze-evoked%20nystagmus%22%5BClinical%20Features%5D%20OR%201808161%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the 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_1808161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaze-evoked nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired pursuit initiation and maintenance</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_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_536043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosognosia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apraxia</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_167799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad-based gait</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_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_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_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</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_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse cerebral atrophy</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_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_572577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal lobe dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal release signs</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_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</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_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_196692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mutism</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_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_306130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paranoia</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_66017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Positive Romberg sign</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></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_22579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary incontinence</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846707[DISCUI]&test_type=Clinical" ref="ncbi_uid=337637">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337637" target="_blank" href="/omim/600075">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK1438)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=337637">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337637" ref="ncbi_uid=337637">V</a></span></span><span class="TLline">Spinocerebellar ataxia type 17</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842696" ref="tree=MeSH" title="MedGen record for Autosomal dominant cerebellar ataxia type I">Autosomal dominant cerebellar ataxia type I</a></span><ul><li><span class="matched_ds">Spinocerebellar ataxia type 17</span></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=13776&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Spinocerebellar ataxia type 17</span> in Orphanet.</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/36374860">Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi M,
|
||
Hamed M,
|
||
Rodríguez-Antigüedad J,
|
||
Cornejo-Olivas M,
|
||
Breza M,
|
||
Lohmann K,
|
||
Klein C,
|
||
Rajalingam R,
|
||
Marras C,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Mar;38(3):368-377.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/mds.29278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374860" target="_blank">36374860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24640980">Differential diagnosis of Huntington's disease: what the clinician should know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardoso F</span><br />
|
||
<span class="medgenPMjournal">Neurodegener Dis Manag</span>
|
||
2014;4(1):67-72.
|
||
doi: 10.2217/nmt.13.78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24640980" target="_blank">24640980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17216650">Sporadic case of spinocerebellar ataxia type 17: treatment observations for managing urinary and psychotic symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanai K,
|
||
Sakakibara R,
|
||
Uchiyama T,
|
||
Liu Z,
|
||
Yamamoto T,
|
||
Ito T,
|
||
Hirano S,
|
||
Asahina M,
|
||
Kuwabara S,
|
||
Hattori T,
|
||
Fukami G,
|
||
Arai K,
|
||
Yamaguchi C,
|
||
Nomura F</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2007 Feb 15;22(3):441-3.
|
||
doi: 10.1002/mds.21285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17216650" target="_blank">17216650</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinocerebellar%20ataxia%20type%2017%22%5Btiab%3A~0%5D)%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 (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36374860">Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi M,
|
||
Hamed M,
|
||
Rodríguez-Antigüedad J,
|
||
Cornejo-Olivas M,
|
||
Breza M,
|
||
Lohmann K,
|
||
Klein C,
|
||
Rajalingam R,
|
||
Marras C,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Mar;38(3):368-377.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/mds.29278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374860" target="_blank">36374860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34993890">Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SU,
|
||
Kim JS,
|
||
Yoo D,
|
||
Kim A,
|
||
Kim HJ,
|
||
Choi JY,
|
||
Park JY,
|
||
Jeong SH,
|
||
Kim JM,
|
||
Park KW</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Feb;22(1):1-13.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1007/s12311-021-01356-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34993890" target="_blank">34993890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30614396">The Expanding Clinical Universe of Polyglutamine Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang S,
|
||
Zhu S,
|
||
Li XJ,
|
||
Li S</span><br />
|
||
<span class="medgenPMjournal">Neuroscientist</span>
|
||
2019 Oct;25(5):512-520.
|
||
Epub 2019 Jan 7
|
||
doi: 10.1177/1073858418822993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30614396" target="_blank">30614396</a><a href="/pmc/articles/PMC6612477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19581089">Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu Q,
|
||
Li XH,
|
||
Wang JL,
|
||
Jiang H,
|
||
Zhang S,
|
||
Lei LF,
|
||
Shen L,
|
||
Xia K,
|
||
Pan Q,
|
||
Long ZG,
|
||
Tang BS</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2009 Oct;16(10):1374-5.
|
||
Epub 2009 Jul 5
|
||
doi: 10.1016/j.jocn.2009.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19581089" target="_blank">19581089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17934876">Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariotti C,
|
||
Alpini D,
|
||
Fancellu R,
|
||
Soliveri P,
|
||
Grisoli M,
|
||
Ravaglia S,
|
||
Lovati C,
|
||
Fetoni V,
|
||
Giaccone G,
|
||
Castucci A,
|
||
Taroni F,
|
||
Gellera C,
|
||
Di Donato S</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2007 Nov;254(11):1538-46.
|
||
Epub 2007 Oct 15
|
||
doi: 10.1007/s00415-007-0579-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17934876" target="_blank">17934876</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36374860">Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi M,
|
||
Hamed M,
|
||
Rodríguez-Antigüedad J,
|
||
Cornejo-Olivas M,
|
||
Breza M,
|
||
Lohmann K,
|
||
Klein C,
|
||
Rajalingam R,
|
||
Marras C,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Mar;38(3):368-377.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/mds.29278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374860" target="_blank">36374860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476347">Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito R,
|
||
Tada Y,
|
||
Oikawa D,
|
||
Sato Y,
|
||
Seto M,
|
||
Satoh A,
|
||
Kume K,
|
||
Ueki N,
|
||
Nakashima M,
|
||
Hayashi S,
|
||
Toyoshima Y,
|
||
Tokunaga F,
|
||
Kawakami H,
|
||
Kakita A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
|
||
2022 Dec 7;10(1):177.
|
||
doi: 10.1186/s40478-022-01486-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476347" target="_blank">36476347</a><a href="/pmc/articles/PMC9727856" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29427105">Spinocerebellar Ataxia Type 17 (SCA17).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toyoshima Y,
|
||
Takahashi H</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1049:219-231.
|
||
doi: 10.1007/978-3-319-71779-1_10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29427105" target="_blank">29427105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17474109">Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rasmussen A,
|
||
De Biase I,
|
||
Fragoso-Benítez M,
|
||
Macías-Flores MA,
|
||
Yescas P,
|
||
Ochoa A,
|
||
Ashizawa T,
|
||
Alonso ME,
|
||
Bidichandani SI</span><br />
|
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<span class="medgenPMjournal">Ann Neurol</span>
|
||
2007 Jun;61(6):607-10.
|
||
doi: 10.1002/ana.21139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17474109" target="_blank">17474109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598069">Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Michele G,
|
||
Maltecca F,
|
||
Carella M,
|
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Volpe G,
|
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Orio M,
|
||
De Falco A,
|
||
Gombia S,
|
||
Servadio A,
|
||
Casari G,
|
||
Filla A,
|
||
Bruni A</span><br />
|
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<span class="medgenPMjournal">Neurol Sci</span>
|
||
2003 Oct;24(3):166-7.
|
||
doi: 10.1007/s10072-003-0112-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598069" target="_blank">14598069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36374860">Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi M,
|
||
Hamed M,
|
||
Rodríguez-Antigüedad J,
|
||
Cornejo-Olivas M,
|
||
Breza M,
|
||
Lohmann K,
|
||
Klein C,
|
||
Rajalingam R,
|
||
Marras C,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Mar;38(3):368-377.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/mds.29278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374860" target="_blank">36374860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30760647">Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CM,
|
||
Chen WL,
|
||
Hung CT,
|
||
Lin TH,
|
||
Lee MC,
|
||
Chen IC,
|
||
Lin CH,
|
||
Chao CY,
|
||
Wu YR,
|
||
Chang KH,
|
||
Hsieh-Li HM,
|
||
Lee-Chen GJ</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2019 Feb 13;11(3):986-1007.
|
||
doi: 10.18632/aging.101804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30760647" target="_blank">30760647</a><a href="/pmc/articles/PMC6382417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26937174">Treatment with a Ginkgo biloba extract, EGb 761, inhibits excitotoxicity in an animal model of spinocerebellar ataxia type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang DS,
|
||
Lin HY,
|
||
Lee-Chen GJ,
|
||
Hsieh-Li HM,
|
||
Wu CH,
|
||
Lin JY</span><br />
|
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<span class="medgenPMjournal">Drug Des Devel Ther</span>
|
||
2016;10:723-31.
|
||
Epub 2016 Feb 18
|
||
doi: 10.2147/DDDT.S98156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26937174" target="_blank">26937174</a><a href="/pmc/articles/PMC4762588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22999214">A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belluzzo M,
|
||
Musho-Ilbeh S,
|
||
Monti F,
|
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Pizzolato G</span><br />
|
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<span class="medgenPMjournal">Seizure</span>
|
||
2012 Dec;21(10):805-6.
|
||
Epub 2012 Sep 19
|
||
doi: 10.1016/j.seizure.2012.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22999214" target="_blank">22999214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21626567">Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee YC,
|
||
Liao YC,
|
||
Wang PS,
|
||
Lee IH,
|
||
Lin KP,
|
||
Soong BW</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2011 Sep;26(11):2081-7.
|
||
Epub 2011 May 28
|
||
doi: 10.1002/mds.23809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21626567" target="_blank">21626567</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39125760">The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman-Zacharska D,
|
||
Sulek A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jul 26;25(15)
|
||
doi: 10.3390/ijms25158190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39125760" target="_blank">39125760</a><a href="/pmc/articles/PMC11312008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19380697">Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JY,
|
||
Kim SY,
|
||
Kim JM,
|
||
Kim YK,
|
||
Yoon KY,
|
||
Kim JY,
|
||
Lee BC,
|
||
Kim JS,
|
||
Paek SH,
|
||
Park SS,
|
||
Kim SE,
|
||
Jeon BS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Apr 21;72(16):1385-9.
|
||
doi: 10.1212/WNL.0b013e3181a18876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19380697" target="_blank">19380697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34993890">Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SU,
|
||
Kim JS,
|
||
Yoo D,
|
||
Kim A,
|
||
Kim HJ,
|
||
Choi JY,
|
||
Park JY,
|
||
Jeong SH,
|
||
Kim JM,
|
||
Park KW</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Feb;22(1):1-13.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1007/s12311-021-01356-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34993890" target="_blank">34993890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19380697">Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JY,
|
||
Kim SY,
|
||
Kim JM,
|
||
Kim YK,
|
||
Yoon KY,
|
||
Kim JY,
|
||
Lee BC,
|
||
Kim JS,
|
||
Paek SH,
|
||
Park SS,
|
||
Kim SE,
|
||
Jeon BS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Apr 21;72(16):1385-9.
|
||
doi: 10.1212/WNL.0b013e3181a18876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19380697" target="_blank">19380697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17934876">Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariotti C,
|
||
Alpini D,
|
||
Fancellu R,
|
||
Soliveri P,
|
||
Grisoli M,
|
||
Ravaglia S,
|
||
Lovati C,
|
||
Fetoni V,
|
||
Giaccone G,
|
||
Castucci A,
|
||
Taroni F,
|
||
Gellera C,
|
||
Di Donato S</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2007 Nov;254(11):1538-46.
|
||
Epub 2007 Oct 15
|
||
doi: 10.1007/s00415-007-0579-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17934876" target="_blank">17934876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15989694">Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zühlke C,
|
||
Dalski A,
|
||
Schwinger E,
|
||
Finckh U</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2005 Jul 1;6:27.
|
||
doi: 10.1186/1471-2350-6-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15989694" target="_blank">15989694</a><a href="/pmc/articles/PMC1177950" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598069">Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Michele G,
|
||
Maltecca F,
|
||
Carella M,
|
||
Volpe G,
|
||
Orio M,
|
||
De Falco A,
|
||
Gombia S,
|
||
Servadio A,
|
||
Casari G,
|
||
Filla A,
|
||
Bruni A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2003 Oct;24(3):166-7.
|
||
doi: 10.1007/s10072-003-0112-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598069" target="_blank">14598069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%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 (14)</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/36374860">Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi M,
|
||
Hamed M,
|
||
Rodríguez-Antigüedad J,
|
||
Cornejo-Olivas M,
|
||
Breza M,
|
||
Lohmann K,
|
||
Klein C,
|
||
Rajalingam R,
|
||
Marras C,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Mar;38(3):368-377.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/mds.29278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374860" target="_blank">36374860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%20type%2017%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>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1846707%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846707%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846707%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846707%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846707%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846707%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (22)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1846707%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607136" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98759" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spinocerebellar%20ataxia%20type%2017" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinocerebellar%20ataxia%20type%2017%22%5Btiab%3A~0%5D)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=600075" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6908[geneid]" target="_blank">View TBP variations in ClinVar</a></li><li><a href="/nuccore/193290129" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=607136" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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/Spinocerebellar+ataxia+17/6750" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spinocerebellar_ataxia_17" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spinocerebellar%20ataxia%20type%2017" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/huntingtons-disease-like" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10469/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301611" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301317" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Spinocerebellar%20ataxia%20type%2017" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Spinocerebellar%20ataxia%20type%2017%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=337637" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=337637" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1846707[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1846707[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=337637" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=337637" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=337637" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=337637" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
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