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<!--
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UID=401075
|
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ConceptID=C1866751
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar tract degeneration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401075</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.">C1866751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Degeneration of the spinocerebellar tracts</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002503">HP:0002503</a></td></tr>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Spinocerebellar tract degeneration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/892345" ref="tree=MeSH" title="MedGen record for Abnormal spinal cord morphology">Abnormal spinal cord morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871173" ref="tree=MeSH" title="MedGen record for Abnormality of the spinocerebellar tracts">Abnormality of the spinocerebellar tracts</a></span><ul><li><span class="matched_ds">Spinocerebellar tract degeneration</span><ul><li><span class="TLline"><a href="/medgen/347273" ref="tree=MeSH" title="MedGen record for Late-onset spinocerebellar degeneration">Late-onset spinocerebellar degeneration</a></span></li><li><span class="TLline"><a href="/medgen/870473" ref="tree=MeSH" title="MedGen record for Spinocerebellar tract disease in lower limbs">Spinocerebellar tract disease in lower limbs</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_9841"><div><strong>Azorean disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9841</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.">C0024408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9841">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155703"><div><strong>Spinocerebellar ataxia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155703</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:">C0752120</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of upgaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155704"><div><strong>Spinocerebellar ataxia type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155704</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.">C0752121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374177"><div><strong>Hereditary spastic paraplegia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374177</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.">C1839264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336493"><div><strong>Spastic ataxia-corneal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336493</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.">C1849085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336493">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341379"><div><strong>Corneal-cerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341379</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.">C1849087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647672"><div><strong>Neurodegeneration with brain iron accumulation 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647672</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.">C4693583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647672">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Azorean disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal-cerebellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336493" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia-corneal dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 2</a></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/29940480">Transcranial magnetic stimulation in hereditary ataxias: Diagnostic utility, pathophysiological insight and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Labrada R,
|
||
Velázquez-Pérez L,
|
||
Ziemann U</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2018 Aug;129(8):1688-1698.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1016/j.clinph.2018.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29940480" target="_blank">29940480</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22915085">Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horton LC,
|
||
Frosch MP,
|
||
Vangel MG,
|
||
Weigel-DiFranco C,
|
||
Berson EL,
|
||
Schmahmann JD</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2013 Apr;12(2):176-93.
|
||
doi: 10.1007/s12311-012-0412-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22915085" target="_blank">22915085</a><a href="/pmc/articles/PMC3562565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753388">Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Quintáns B,
|
||
Ros R,
|
||
Ampuero I,
|
||
Yáñez Z,
|
||
Pascual SI,
|
||
de Yébenes JG,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Sep;33(9):1315-23.
|
||
Epub 2012 Jul 16
|
||
doi: 10.1002/humu.22148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753388" target="_blank">22753388</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20tract%20degeneration)%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 (7)</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/35859519">Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low-power view findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwabuchi K,
|
||
Koyano S,
|
||
Yagishita S</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2022 Oct;42(5):379-393.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1111/neup.12823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35859519" target="_blank">35859519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30152109">DNA repair in trinucleotide repeat ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yau WY,
|
||
O'Connor E,
|
||
Sullivan R,
|
||
Akijian L,
|
||
Wood NW</span><br />
|
||
<span class="medgenPMjournal">FEBS J</span>
|
||
2018 Oct;285(19):3669-3682.
|
||
Epub 2018 Sep 10
|
||
doi: 10.1111/febs.14644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30152109" target="_blank">30152109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24816443">Polyglutamine (PolyQ) diseases: genetics to treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fan HC,
|
||
Ho LI,
|
||
Chi CS,
|
||
Chen SJ,
|
||
Peng GS,
|
||
Chan TM,
|
||
Lin SZ,
|
||
Harn HJ</span><br />
|
||
<span class="medgenPMjournal">Cell Transplant</span>
|
||
2014;23(4-5):441-58.
|
||
doi: 10.3727/096368914X678454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24816443" target="_blank">24816443</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10353790">Linkage disequilibrium at the SCA2 locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Didierjean O,
|
||
Cancel G,
|
||
Stevanin G,
|
||
Dürr A,
|
||
Bürk K,
|
||
Benomar A,
|
||
Lezin A,
|
||
Belal S,
|
||
Abada-Bendid M,
|
||
Klockgether T,
|
||
Brice A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 May;36(5):415-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10353790" target="_blank">10353790</a><a href="/pmc/articles/PMC1734371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8060430">MRI abnormalities in Behr syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzan KA,
|
||
Barron TF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1994 May;10(3):247-8.
|
||
doi: 10.1016/0887-8994(94)90033-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8060430" target="_blank">8060430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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 (66)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39153381">"One a penny, two a penny", I saw the hot cross bun sign".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson R,
|
||
Lausch J,
|
||
Degenstein D,
|
||
Reznikov B</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2024 Oct;114:110251.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1016/j.clinimag.2024.110251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39153381" target="_blank">39153381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26388117">Delayed-onset Friedreich's ataxia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lecocq C,
|
||
Charles P,
|
||
Azulay JP,
|
||
Meissner W,
|
||
Rai M,
|
||
N'Guyen K,
|
||
Péréon Y,
|
||
Fabre N,
|
||
Robin E,
|
||
Courtois S,
|
||
Guyant-Maréchal L,
|
||
Zagnoli F,
|
||
Rudolf G,
|
||
Renaud M,
|
||
Sévin-Allouet M,
|
||
Lesne F,
|
||
Alaerts N,
|
||
Goizet C,
|
||
Calvas P,
|
||
Eusebio A,
|
||
Guissart C,
|
||
Derkinderen P,
|
||
Tison F,
|
||
Brice A,
|
||
Koenig M,
|
||
Pandolfo M,
|
||
Tranchant C,
|
||
Dürr A,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2016 Jan;31(1):62-9.
|
||
Epub 2015 Sep 21
|
||
doi: 10.1002/mds.26382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26388117" target="_blank">26388117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19320530">Pharmacotherapy for Friedreich ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
|
||
Friedman LS,
|
||
Wilson RB,
|
||
Lynch DR</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2009;23(3):213-23.
|
||
doi: 10.2165/00023210-200923030-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19320530" target="_blank">19320530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8060430">MRI abnormalities in Behr syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzan KA,
|
||
Barron TF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1994 May;10(3):247-8.
|
||
doi: 10.1016/0887-8994(94)90033-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8060430" target="_blank">8060430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2213043">Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filla A,
|
||
De Michele G,
|
||
Cavalcanti F,
|
||
Perretti A,
|
||
Santoro L,
|
||
Barbieri F,
|
||
D'Arienzo G,
|
||
Campanella G</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Aug;53(8):667-70.
|
||
doi: 10.1136/jnnp.53.8.667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2213043" target="_blank">2213043</a><a href="/pmc/articles/PMC488168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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 (70)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30760052">RNA Interference Therapy for Machado-Joseph Disease: Long-Term Safety Profile of Lentiviral Vectors Encoding Short Hairpin RNAs Targeting Mutant Ataxin-3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nóbrega C,
|
||
Codêsso JM,
|
||
Mendonça L,
|
||
Pereira de Almeida L</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2019 Jul;30(7):841-854.
|
||
Epub 2019 May 28
|
||
doi: 10.1089/hum.2018.157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30760052" target="_blank">30760052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30612452">Targeting Ubiquitin Proteasome Pathway with Traditional Chinese Medicine for Treatment of Spinocerebellar Ataxia Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen IC,
|
||
Chang CN,
|
||
Chen WL,
|
||
Lin TH,
|
||
Chao CY,
|
||
Lin CH,
|
||
Lin HY,
|
||
Cheng ML,
|
||
Chiang MC,
|
||
Lin JY,
|
||
Wu YR,
|
||
Lee-Chen GJ,
|
||
Chen CM</span><br />
|
||
<span class="medgenPMjournal">Am J Chin Med</span>
|
||
2019;47(1):63-95.
|
||
Epub 2019 Jan 7
|
||
doi: 10.1142/S0192415X19500046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30612452" target="_blank">30612452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19320530">Pharmacotherapy for Friedreich ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
|
||
Friedman LS,
|
||
Wilson RB,
|
||
Lynch DR</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2009;23(3):213-23.
|
||
doi: 10.2165/00023210-200923030-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19320530" target="_blank">19320530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14636324">Diffusion tensor MRI and fiber tractography of cerebellar atrophy in phenytoin users.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SK,
|
||
Mori S,
|
||
Kim DJ,
|
||
Kim SY,
|
||
Kim SY,
|
||
Chu M,
|
||
Heo K,
|
||
Lee BI,
|
||
Kim DI</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2003 Dec;44(12):1536-40.
|
||
doi: 10.1111/j.0013-9580.2003.43502.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14636324" target="_blank">14636324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11440743">Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomura T,
|
||
Takeshima T,
|
||
Nakashima K</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2001 Jun 15;187(1-2):41-7.
|
||
doi: 10.1016/s0022-510x(01)00522-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11440743" target="_blank">11440743</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35859519">Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low-power view findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwabuchi K,
|
||
Koyano S,
|
||
Yagishita S</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2022 Oct;42(5):379-393.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1111/neup.12823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35859519" target="_blank">35859519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8896556">Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanpei K,
|
||
Takano H,
|
||
Igarashi S,
|
||
Sato T,
|
||
Oyake M,
|
||
Sasaki H,
|
||
Wakisaka A,
|
||
Tashiro K,
|
||
Ishida Y,
|
||
Ikeuchi T,
|
||
Koide R,
|
||
Saito M,
|
||
Sato A,
|
||
Tanaka T,
|
||
Hanyu S,
|
||
Takiyama Y,
|
||
Nishizawa M,
|
||
Shimizu N,
|
||
Nomura Y,
|
||
Segawa M,
|
||
Iwabuchi K,
|
||
Eguchi I,
|
||
Tanaka H,
|
||
Takahashi H,
|
||
Tsuji S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1996 Nov;14(3):277-84.
|
||
doi: 10.1038/ng1196-277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8896556" target="_blank">8896556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7620119">Spinocerebellar ataxia type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zoghbi HY,
|
||
Orr HT</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Biol</span>
|
||
1995 Feb;6(1):29-35.
|
||
doi: 10.1016/1043-4682(95)90012-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7620119" target="_blank">7620119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8060430">MRI abnormalities in Behr syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzan KA,
|
||
Barron TF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1994 May;10(3):247-8.
|
||
doi: 10.1016/0887-8994(94)90033-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8060430" target="_blank">8060430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2213043">Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filla A,
|
||
De Michele G,
|
||
Cavalcanti F,
|
||
Perretti A,
|
||
Santoro L,
|
||
Barbieri F,
|
||
D'Arienzo G,
|
||
Campanella G</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Aug;53(8):667-70.
|
||
doi: 10.1136/jnnp.53.8.667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2213043" target="_blank">2213043</a><a href="/pmc/articles/PMC488168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35859519">Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low-power view findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwabuchi K,
|
||
Koyano S,
|
||
Yagishita S</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2022 Oct;42(5):379-393.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1111/neup.12823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35859519" target="_blank">35859519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34927205">Motor neuron pathology in CANVAS due to RFC1 expansions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huin V,
|
||
Coarelli G,
|
||
Guemy C,
|
||
Boluda S,
|
||
Debs R,
|
||
Mochel F,
|
||
Stojkovic T,
|
||
Grabli D,
|
||
Maisonobe T,
|
||
Gaymard B,
|
||
Lenglet T,
|
||
Tard C,
|
||
Davion JB,
|
||
Sablonnière B,
|
||
Monin ML,
|
||
Ewenczyk C,
|
||
Viala K,
|
||
Charles P,
|
||
Le Ber I,
|
||
Reilly MM,
|
||
Houlden H,
|
||
Cortese A,
|
||
Seilhean D,
|
||
Brice A,
|
||
Durr A</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 30;145(6):2121-2132.
|
||
doi: 10.1093/brain/awab449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34927205" target="_blank">34927205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10434311">CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frontali M,
|
||
Novelletto A,
|
||
Annesi G,
|
||
Jodice C</span><br />
|
||
<span class="medgenPMjournal">Philos Trans R Soc Lond B Biol Sci</span>
|
||
1999 Jun 29;354(1386):1089-94.
|
||
doi: 10.1098/rstb.1999.0464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10434311" target="_blank">10434311</a><a href="/pmc/articles/PMC1692606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10353790">Linkage disequilibrium at the SCA2 locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Didierjean O,
|
||
Cancel G,
|
||
Stevanin G,
|
||
Dürr A,
|
||
Bürk K,
|
||
Benomar A,
|
||
Lezin A,
|
||
Belal S,
|
||
Abada-Bendid M,
|
||
Klockgether T,
|
||
Brice A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 May;36(5):415-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10353790" target="_blank">10353790</a><a href="/pmc/articles/PMC1734371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7620119">Spinocerebellar ataxia type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zoghbi HY,
|
||
Orr HT</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Biol</span>
|
||
1995 Feb;6(1):29-35.
|
||
doi: 10.1016/1043-4682(95)90012-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7620119" target="_blank">7620119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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 (79)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30522958">The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Traschütz A,
|
||
van Gaalen J,
|
||
Oosterloo M,
|
||
Vreeburg M,
|
||
Kamsteeg EJ,
|
||
Deininger N,
|
||
Rieß O,
|
||
Reimold M,
|
||
Haack T,
|
||
Schöls L,
|
||
van de Warrenburg BP,
|
||
Synofzik M</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 May;62:215-220.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1016/j.parkreldis.2018.11.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30522958" target="_blank">30522958</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20degeneration%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>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Spinocerebellar%20tract%20degeneration" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20tract%20degeneration)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Spinocerebellar%20tract%20degeneration%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<li>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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