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<meta name="keywords" content="C4310699, autosomal dominant cerebellar ataxia caused by mutation in uba5, disease or syndrome, scar24, spinocerebellar ataxia, autosomal recessive 24, spinocerebellar ataxia, autosomal recessive 24; scar24, spinocerebellar ataxia, autosomal recessive type 24, uba5, uba5 autosomal dominant cerebellar ataxia, 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="Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=934666
|
||
ConceptID=C4310699
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar ataxia, autosomal recessive 24<span class="h1sub">(SCAR24)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934666</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:">C4310699</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>SCAR24</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="UBA5 - ID: 79876 - NCBI Gene" href="/gene/79876" class="medgenPMinfo">UBA5</a> (3q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014934" target="_blank">MONDO:0014934</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617133" target="_blank">617133</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_115907"><div><strong>Spastic gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115907</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.">C0231687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115907">Feature record</a> | <a href="/medgen?term=%22Spastic%20gait%22%5BClinical%20Features%5D%20OR%20115907%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_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124399"><div><strong>Horizontal nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124399</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.">C0271385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus consisting of horizontal to-and-fro eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124399">Feature record</a> | <a href="/medgen?term=%22Horizontal%20nystagmus%22%5BClinical%20Features%5D%20OR%20124399%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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal nystagmus</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_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_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_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_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_115907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic gait</a></span></li></ul></li></ul></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/26662178">Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJ,
|
||
Roeleveld N,
|
||
Weemaes CM,
|
||
Jongmans MC,
|
||
Janssens GO,
|
||
Taylor AM,
|
||
Hoogerbrugge N,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 Aug;90(2):105-17.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1111/cge.12710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26662178" target="_blank">26662178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</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/34121011">Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aida I,
|
||
Ozawa T,
|
||
Fujinaka H,
|
||
Goto K,
|
||
Ohta K,
|
||
Nakajima T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2021 Dec 15;60(24):3963-3967.
|
||
Epub 2021 Jun 12
|
||
doi: 10.2169/internalmedicine.7401-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34121011" target="_blank">34121011</a><a href="/pmc/articles/PMC8758457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31741144">Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu-Albayrak H,
|
||
Kırat E,
|
||
Gürbüz G</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Jan;21(1):59-66.
|
||
Epub 2019 Nov 19
|
||
doi: 10.1007/s10048-019-00597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31741144" target="_blank">31741144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26662178">Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJ,
|
||
Roeleveld N,
|
||
Weemaes CM,
|
||
Jongmans MC,
|
||
Janssens GO,
|
||
Taylor AM,
|
||
Hoogerbrugge N,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 Aug;90(2):105-17.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1111/cge.12710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26662178" target="_blank">26662178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17710660">Dysgerminoma in a child with ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koksal Y,
|
||
Caliskan U,
|
||
Ucar C,
|
||
Yurtcu M,
|
||
Artac H,
|
||
Ilerisoy-Yakut Z,
|
||
Reisli I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2007 Sep;24(6):431-6.
|
||
doi: 10.1080/08880010701451434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17710660" target="_blank">17710660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17112370">Autosomal recessive cerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palau F,
|
||
Espinós C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Nov 17;1:47.
|
||
doi: 10.1186/1750-1172-1-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17112370" target="_blank">17112370</a><a href="/pmc/articles/PMC1664553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39920364">Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novis LE,
|
||
Silva TYT,
|
||
Pedroso JL,
|
||
Barsottini OGP</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2025 Feb 8;24(2):45.
|
||
doi: 10.1007/s12311-025-01798-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39920364" target="_blank">39920364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34121011">Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aida I,
|
||
Ozawa T,
|
||
Fujinaka H,
|
||
Goto K,
|
||
Ohta K,
|
||
Nakajima T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2021 Dec 15;60(24):3963-3967.
|
||
Epub 2021 Jun 12
|
||
doi: 10.2169/internalmedicine.7401-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34121011" target="_blank">34121011</a><a href="/pmc/articles/PMC8758457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30343341">Ataxia telangiectasia alters the ApoB and reelin pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canet-Pons J,
|
||
Schubert R,
|
||
Duecker RP,
|
||
Schrewe R,
|
||
Wölke S,
|
||
Kieslich M,
|
||
Schnölzer M,
|
||
Chiocchetti A,
|
||
Auburger G,
|
||
Zielen S,
|
||
Warnken U</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2018 Dec;19(4):237-255.
|
||
Epub 2018 Oct 21
|
||
doi: 10.1007/s10048-018-0557-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30343341" target="_blank">30343341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17710660">Dysgerminoma in a child with ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koksal Y,
|
||
Caliskan U,
|
||
Ucar C,
|
||
Yurtcu M,
|
||
Artac H,
|
||
Ilerisoy-Yakut Z,
|
||
Reisli I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2007 Sep;24(6):431-6.
|
||
doi: 10.1080/08880010701451434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17710660" target="_blank">17710660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17112370">Autosomal recessive cerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palau F,
|
||
Espinós C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Nov 17;1:47.
|
||
doi: 10.1186/1750-1172-1-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17112370" target="_blank">17112370</a><a href="/pmc/articles/PMC1664553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26645295">Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pommerening H,
|
||
van Dullemen S,
|
||
Kieslich M,
|
||
Schubert R,
|
||
Zielen S,
|
||
Voss S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Dec 9;10:155.
|
||
doi: 10.1186/s13023-015-0373-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26645295" target="_blank">26645295</a><a href="/pmc/articles/PMC4673730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22098343">Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lockman JL,
|
||
Iskander AJ,
|
||
Bembea M,
|
||
Crawford TO,
|
||
Lederman HM,
|
||
McGrath-Morrow S,
|
||
Easley RB</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2012 Mar;22(3):256-62.
|
||
Epub 2011 Nov 21
|
||
doi: 10.1111/j.1460-9592.2011.03739.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22098343" target="_blank">22098343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17710660">Dysgerminoma in a child with ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koksal Y,
|
||
Caliskan U,
|
||
Ucar C,
|
||
Yurtcu M,
|
||
Artac H,
|
||
Ilerisoy-Yakut Z,
|
||
Reisli I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2007 Sep;24(6):431-6.
|
||
doi: 10.1080/08880010701451434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17710660" target="_blank">17710660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15789441">Interstitial lung disease in patients with ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schroeder SA,
|
||
Swift M,
|
||
Sandoval C,
|
||
Langston C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2005 Jun;39(6):537-43.
|
||
doi: 10.1002/ppul.20209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15789441" target="_blank">15789441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%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/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
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Schulz JB</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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2015 Feb;14(2):174-82.
|
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Epub 2015 Jan 5
|
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doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/17710660">Dysgerminoma in a child with ataxia-telangiectasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Koksal Y,
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Caliskan U,
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Ucar C,
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Yurtcu M,
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2007 Sep;24(6):431-6.
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<span class="bold">PMID: </span><a href="/pubmed/17710660" target="_blank">17710660</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/17112370">Autosomal recessive cerebellar ataxias.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Palau F,
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Espinós C</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2006 Nov 17;1:47.
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<span class="bold">PMID: </span><a href="/pubmed/17112370" target="_blank">17112370</a><a href="/pmc/articles/PMC1664553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15942625">Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olsen JH,
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Hahnemann JM,
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Børresen-Dale AL,
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Tretli S,
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Kleinerman R,
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Sankila R,
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Hammarström L,
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Robsahm TE,
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Kääriäinen H,
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Bregård A,
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2005 Jul 25;93(2):260-5.
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doi: 10.1038/sj.bjc.6602658.
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<span class="bold">PMID: </span><a href="/pubmed/15942625" target="_blank">15942625</a><a href="/pmc/articles/PMC2361547" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15789441">Interstitial lung disease in patients with ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schroeder SA,
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Swift M,
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Sandoval C,
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Langston C</span><br />
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2005 Jun;39(6):537-43.
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<span class="bold">PMID: </span><a href="/pubmed/15789441" target="_blank">15789441</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/39920364">Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novis LE,
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||
Silva TYT,
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||
Pedroso JL,
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Barsottini OGP</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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||
2025 Feb 8;24(2):45.
|
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doi: 10.1007/s12311-025-01798-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39920364" target="_blank">39920364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31429931">Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakya S,
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Kumari R,
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Suroliya V,
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Tyagi N,
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Joshi A,
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Garg A,
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Singh I,
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Kalikavil Puthanveedu D,
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Cherian A,
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Mukerji M,
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Srivastava AK,
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Faruq M</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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||
2019 Dec;96(6):566-574.
|
||
Epub 2019 Sep 1
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doi: 10.1111/cge.13625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31429931" target="_blank">31429931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30343341">Ataxia telangiectasia alters the ApoB and reelin pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canet-Pons J,
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Schubert R,
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||
Duecker RP,
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Schrewe R,
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Wölke S,
|
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Kieslich M,
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Schnölzer M,
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Chiocchetti A,
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Auburger G,
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Zielen S,
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Warnken U</span><br />
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||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2018 Dec;19(4):237-255.
|
||
Epub 2018 Oct 21
|
||
doi: 10.1007/s10048-018-0557-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30343341" target="_blank">30343341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
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Dogan I,
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Costa AS,
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Dafotakis M,
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Fedosov K,
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Giunti P,
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Parkinson MH,
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||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25260547">Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larivière R,
|
||
Gaudet R,
|
||
Gentil BJ,
|
||
Girard M,
|
||
Conte TC,
|
||
Minotti S,
|
||
Leclerc-Desaulniers K,
|
||
Gehring K,
|
||
McKinney RA,
|
||
Shoubridge EA,
|
||
McPherson PS,
|
||
Durham HD,
|
||
Brais B</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Feb 1;24(3):727-39.
|
||
Epub 2014 Sep 26
|
||
doi: 10.1093/hmg/ddu491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25260547" target="_blank">25260547</a><a href="/pmc/articles/PMC4291249" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%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 (25)</a></div></div>
|
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|
||
|
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/26662178">Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJ,
|
||
Roeleveld N,
|
||
Weemaes CM,
|
||
Jongmans MC,
|
||
Janssens GO,
|
||
Taylor AM,
|
||
Hoogerbrugge N,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 Aug;90(2):105-17.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1111/cge.12710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26662178" target="_blank">26662178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310699%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C4310699%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
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<li><a href="/gtr/tests?term=C4310699%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310699%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20ataxia%2C%20autosomal%20recessive%2024)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610552" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=79876[geneid]" target="_blank">View UBA5 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617133" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_24_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spinocerebellar%20ataxia,%20autosomal%20recessive%2024" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Spinocerebellar%20ataxia,%20autosomal%20recessive%2024" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Spinocerebellar%20ataxia,%20autosomal%20recessive%2024%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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