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<!--
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||
UID=39733
|
||
ConceptID=C0087012
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar atrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39733</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.">C0087012</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>Spinocerebellar ataxia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Spinocerebellar ataxia (129609000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007263">HP:0007263</a></td></tr>
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<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">Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0087012[DISCUI]&test_type=Clinical" ref="ncbi_uid=39733">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39733" ref="ncbi_uid=39733">V</a></span></span><span class="TLline">Spinocerebellar atrophy</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1684639" ref="tree=GTR&ncbi_uid=1684639&link_uid=1684639" title="View MedGen record for 'Autosomal dominant cerebellar ataxia'">Autosomal dominant cerebellar ataxia</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/1843058" ref="tree=GTR&ncbi_uid=1843058&link_uid=1843058" title="View MedGen record for 'Autosomal recessive cerebellar ataxia'">Autosomal recessive cerebellar ataxia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span><ul><li><span class="TLline"><a href="/medgen/849" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia">Cerebellar ataxia</a></span><ul><li><span class="matched_ds">Spinocerebellar atrophy</span><ul><li><span class="TLline"><a href="/medgen/767604" ref="tree=MeSH" title="MedGen record for Ataxia with oculomotor apraxia type 3">Ataxia with oculomotor apraxia type 3</a></span></li><li><span class="TLline"><a href="/medgen/395301" ref="tree=MeSH" title="MedGen record for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia">Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</a></span></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684639" ref="tree=MeSH" title="MedGen record for Autosomal dominant cerebellar ataxia">Autosomal dominant cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/1843058" ref="tree=MeSH" title="MedGen record for Autosomal recessive cerebellar ataxia">Autosomal recessive cerebellar ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/436985" ref="tree=MeSH" title="MedGen record for Autosomal recessive ataxia due to ubiquinone deficiency">Autosomal recessive ataxia due to ubiquinone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343973" ref="tree=MeSH" title="MedGen record for Autosomal recessive ataxia, Beauce type">Autosomal recessive ataxia, Beauce type</a></span></li><li><span class="TLline"><a href="/medgen/324520" ref="tree=MeSH" title="MedGen record for Autosomal recessive spinocerebellar ataxia 7">Autosomal recessive spinocerebellar ataxia 7</a></span></li><li><span class="TLline"><a href="/medgen/462348" ref="tree=MeSH" title="MedGen record for Autosomal recessive spinocerebellar ataxia 10">Autosomal recessive spinocerebellar ataxia 10</a></span></li><li><span class="TLline"><a href="/medgen/1636182" ref="tree=MeSH" title="MedGen record for Autosomal recessive spinocerebellar ataxia 14">Autosomal recessive spinocerebellar ataxia 14</a></span></li><li><span class="TLline"><a href="/medgen/1674542" ref="tree=MeSH" title="MedGen record for Autosomal recessive spinocerebellar ataxia 16">Autosomal recessive spinocerebellar ataxia 16</a></span></li><li><span class="TLline"><a href="/medgen/334220" ref="tree=MeSH" title="MedGen record for Infantile-onset autosomal recessive nonprogressive cerebellar ataxia">Infantile-onset autosomal recessive nonprogressive cerebellar ataxia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span><ul><li><span class="TLline"><a href="/medgen/155610" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 1">Machado-Joseph disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/199707" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 2">Machado-Joseph disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/155611" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 3">Machado-Joseph disease type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341248" ref="tree=MeSH" title="MedGen record for Familial isolated deficiency of vitamin E">Familial isolated deficiency of vitamin E</a></span></li><li><span class="TLline"><a href="/medgen/156006" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia 7">Spinocerebellar ataxia 7</a></span></li><li><span class="TLline"><a href="/medgen/155703" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 1">Spinocerebellar ataxia type 1</a></span></li><li><span class="TLline"><a href="/medgen/155704" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 2">Spinocerebellar ataxia type 2</a></span></li><li><span class="TLline"><a href="/medgen/148458" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 6">Spinocerebellar ataxia type 6</a></span></li><li><span class="TLline"><a href="/medgen/347653" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 12">Spinocerebellar ataxia type 12</a></span></li><li><span class="TLline"><a href="/medgen/337637" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 17">Spinocerebellar ataxia type 17</a></span></li><li><span class="TLline"><a href="/medgen/1711119" ref="tree=MeSH" title="MedGen record for Spinocerebellar Ataxia Type 19/22">Spinocerebellar Ataxia Type 19/22</a></span></li><li><span class="TLline"><a href="/medgen/348439" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 31">Spinocerebellar ataxia type 31</a></span></li><li><span class="TLline"><a href="/medgen/483339" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 36">Spinocerebellar ataxia type 36</a></span></li><li><span class="TLline"><a href="/medgen/902592" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 42">Spinocerebellar ataxia type 42</a></span></li><li><span class="TLline"><a href="/medgen/340052" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2">Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</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 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_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.">C0752120</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_347798"><div><strong>Ataxia-hypogonadism-choroidal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347798</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.">C1859093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356608"><div><strong>Spinocerebellar atrophy with pupillary paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356608</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.">C1866746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356608">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-hypogonadism-choroidal 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_356608" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar atrophy with pupillary paralysis</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/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Oct;67:74-89.
|
||
Epub 2019 Jun 30
|
||
doi: 10.1016/j.parkreldis.2019.06.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31048364">Diagnosis and management of progressive ataxia in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Silva RN,
|
||
Vallortigara J,
|
||
Greenfield J,
|
||
Hunt B,
|
||
Giunti P,
|
||
Hadjivassiliou M</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2019 Jun;19(3):196-207.
|
||
Epub 2019 May 2
|
||
doi: 10.1136/practneurol-2018-002096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31048364" target="_blank">31048364</a><a href="/pmc/articles/PMC6585307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28318010">Ataxia-telangiectasia: recommendations for multidisciplinary treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJH,
|
||
Haaxma CA,
|
||
van der Flier M,
|
||
Merkus PJFM,
|
||
van Deuren M,
|
||
de Groot IJM,
|
||
Loeffen J,
|
||
van de Warrenburg BPC,
|
||
Willemsen MAAP;
|
||
A-T Study Group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2017 Jul;59(7):680-689.
|
||
Epub 2017 Mar 20
|
||
doi: 10.1111/dmcn.13424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28318010" target="_blank">28318010</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20atrophy)%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 (212)</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/32344649">Induced Pluripotent Stem Cell (iPSC)-Based Neurodegenerative Disease Models for Phenotype Recapitulation and Drug Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang CY,
|
||
Ting HC,
|
||
Liu CA,
|
||
Su HL,
|
||
Chiou TW,
|
||
Lin SZ,
|
||
Harn HJ,
|
||
Ho TJ</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2020 Apr 24;25(8)
|
||
doi: 10.3390/molecules25082000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32344649" target="_blank">32344649</a><a href="/pmc/articles/PMC7221979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29357018">Glutamate Dehydrogenase as a Neuroprotective Target Against Neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim AY,
|
||
Baik EJ</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2019 Jan;44(1):147-153.
|
||
Epub 2018 Jan 22
|
||
doi: 10.1007/s11064-018-2467-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29357018" target="_blank">29357018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24248152">Branching enzyme deficiency: expanding the clinical spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paradas C,
|
||
Akman HO,
|
||
Ionete C,
|
||
Lau H,
|
||
Riskind PN,
|
||
Jones DE,
|
||
Smith TW,
|
||
Hirano M,
|
||
Dimauro S</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2014 Jan;71(1):41-7.
|
||
doi: 10.1001/jamaneurol.2013.4888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24248152" target="_blank">24248152</a><a href="/pmc/articles/PMC6148323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9756151">Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eder K,
|
||
Kish SJ,
|
||
Kirchgessner M,
|
||
Ross BM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
1998 Sep;13(5):813-9.
|
||
doi: 10.1002/mds.870130510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9756151" target="_blank">9756151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7614091">Autosomal dominant spinocerebellar atrophy with retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ptácek LJ</span><br />
|
||
<span class="medgenPMjournal">Clin Neurosci</span>
|
||
1995;3(1):28-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7614091" target="_blank">7614091</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20atrophy%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38324175">Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izumi R,
|
||
Warita H,
|
||
Niihori T,
|
||
Furusawa Y,
|
||
Nakano M,
|
||
Oya Y,
|
||
Kato K,
|
||
Shiga T,
|
||
Ikeda K,
|
||
Suzuki N,
|
||
Nishino I,
|
||
Aoki Y,
|
||
Aoki M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Aug;23(4):1498-1508.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s12311-024-01666-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38324175" target="_blank">38324175</a><a href="/pmc/articles/PMC11269323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791574">Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Louis ED,
|
||
Kuo SH,
|
||
Tate WJ,
|
||
Kelly GC,
|
||
Gutierrez J,
|
||
Cortes EP,
|
||
Vonsattel JG,
|
||
Faust PL</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2018 Apr;17(2):104-110.
|
||
doi: 10.1007/s12311-017-0876-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791574" target="_blank">28791574</a><a href="/pmc/articles/PMC5803474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23031666">FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su SL,
|
||
Wang WF,
|
||
Wu SL,
|
||
Wu HM,
|
||
Chang JC,
|
||
Huang CS,
|
||
Cheng WL,
|
||
Soong BW,
|
||
Lee YC,
|
||
Li JY,
|
||
Kuo SJ,
|
||
Chen M,
|
||
Huang CN,
|
||
Liu CS</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2012 Dec 24;414:225-7.
|
||
Epub 2012 Sep 29
|
||
doi: 10.1016/j.cca.2012.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23031666" target="_blank">23031666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9756151">Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eder K,
|
||
Kish SJ,
|
||
Kirchgessner M,
|
||
Ross BM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
1998 Sep;13(5):813-9.
|
||
doi: 10.1002/mds.870130510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9756151" target="_blank">9756151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7677014">MR findings in adult-onset adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar AJ,
|
||
Köhler W,
|
||
Kruse B,
|
||
Naidu S,
|
||
Bergin A,
|
||
Edwin D,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1995 Jun-Jul;16(6):1227-37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7677014" target="_blank">7677014</a><a href="/pmc/articles/PMC8337821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20atrophy%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29357018">Glutamate Dehydrogenase as a Neuroprotective Target Against Neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim AY,
|
||
Baik EJ</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2019 Jan;44(1):147-153.
|
||
Epub 2018 Jan 22
|
||
doi: 10.1007/s11064-018-2467-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29357018" target="_blank">29357018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23668915">It may be possible to delay the onset of neurodegenerative diseases with an immunosuppressive drug (rapamycin).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aso E,
|
||
Ferrer I</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2013 Sep;13(9):1215-9.
|
||
Epub 2013 May 14
|
||
doi: 10.1517/14712598.2013.799129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23668915" target="_blank">23668915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20809107">Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takei A,
|
||
Hamada S,
|
||
Homma S,
|
||
Hamada K,
|
||
Tashiro K,
|
||
Hamada T</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2010 Dec;9(4):567-70.
|
||
doi: 10.1007/s12311-010-0199-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20809107" target="_blank">20809107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9678312">Oculomotor testing in the differential diagnosis of degenerative ataxic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessel K,
|
||
Moschner C,
|
||
Wandinger KP,
|
||
Kömpf D,
|
||
Heide W</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1998 Jul;55(7):949-56.
|
||
doi: 10.1001/archneur.55.7.949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9678312" target="_blank">9678312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20atrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38324175">Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izumi R,
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||
Warita H,
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||
Niihori T,
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||
Furusawa Y,
|
||
Nakano M,
|
||
Oya Y,
|
||
Kato K,
|
||
Shiga T,
|
||
Ikeda K,
|
||
Suzuki N,
|
||
Nishino I,
|
||
Aoki Y,
|
||
Aoki M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Aug;23(4):1498-1508.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s12311-024-01666-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38324175" target="_blank">38324175</a><a href="/pmc/articles/PMC11269323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24248152">Branching enzyme deficiency: expanding the clinical spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paradas C,
|
||
Akman HO,
|
||
Ionete C,
|
||
Lau H,
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||
Riskind PN,
|
||
Jones DE,
|
||
Smith TW,
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Hirano M,
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<span class="medgenPMjournal">JAMA Neurol</span>
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||
2014 Jan;71(1):41-7.
|
||
doi: 10.1001/jamaneurol.2013.4888.
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||
<span class="bold">PMID: </span><a href="/pubmed/24248152" target="_blank">24248152</a><a href="/pmc/articles/PMC6148323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9678312">Oculomotor testing in the differential diagnosis of degenerative ataxic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessel K,
|
||
Moschner C,
|
||
Wandinger KP,
|
||
Kömpf D,
|
||
Heide W</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1998 Jul;55(7):949-56.
|
||
doi: 10.1001/archneur.55.7.949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9678312" target="_blank">9678312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7677014">MR findings in adult-onset adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar AJ,
|
||
Köhler W,
|
||
Kruse B,
|
||
Naidu S,
|
||
Bergin A,
|
||
Edwin D,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1995 Jun-Jul;16(6):1227-37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7677014" target="_blank">7677014</a><a href="/pmc/articles/PMC8337821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7484627">Infantile-onset spinocerebellar ataxia: MR and CT findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koskinen T,
|
||
Valanne L,
|
||
Ketonen LM,
|
||
Pihko H</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1995 Aug;16(7):1427-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7484627" target="_blank">7484627</a><a href="/pmc/articles/PMC8338065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20atrophy%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28072384">Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dayan M,
|
||
Olivito G,
|
||
Molinari M,
|
||
Cercignani M,
|
||
Bozzali M,
|
||
Leggio M</span><br />
|
||
<span class="medgenPMjournal">Funct Neurol</span>
|
||
2016 Oct/Dec;31(4):239-248.
|
||
doi: 10.11138/fneur/2016.31.4.239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28072384" target="_blank">28072384</a><a href="/pmc/articles/PMC5231886" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20809107">Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takei A,
|
||
Hamada S,
|
||
Homma S,
|
||
Hamada K,
|
||
Tashiro K,
|
||
Hamada T</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2010 Dec;9(4):567-70.
|
||
doi: 10.1007/s12311-010-0199-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20809107" target="_blank">20809107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9678312">Oculomotor testing in the differential diagnosis of degenerative ataxic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessel K,
|
||
Moschner C,
|
||
Wandinger KP,
|
||
Kömpf D,
|
||
Heide W</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1998 Jul;55(7):949-56.
|
||
doi: 10.1001/archneur.55.7.949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9678312" target="_blank">9678312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8549432">Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mondelli M,
|
||
Rossi A,
|
||
Scarpini C,
|
||
Guazzi GC</span><br />
|
||
<span class="medgenPMjournal">Electromyogr Clin Neurophysiol</span>
|
||
1995 Nov;35(7):415-24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8549432" target="_blank">8549432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6220851">The human dorsal spinocerebellar tract: myelinated fiber spectrum and fiber density in controls, autosomal dominant spinocerebellar atrophy, Huntington's chorea, radiation myelopathy, and diseases with peripheral sensory nerve involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringelstein EB,
|
||
Schröder JM</span><br />
|
||
<span class="medgenPMjournal">Clin Neuropathol</span>
|
||
1982;1(3):121-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6220851" target="_blank">6220851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20atrophy%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 (5)</a></div></div>
|
||
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|
||
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|
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|
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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="/gtr/tests?term=C0087012%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></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%20atrophy)%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%20atrophy%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 class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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||
</div>
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||
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