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<meta name="keywords" content="C2675528, autosomal dominant pure spastic paraplegia caused by mutation in slc33a1, autosomal dominant spastic paraplegia 42, autosomal dominant spastic paraplegia type 42, disease or syndrome, hereditary spastic paraplegia 42, hereditary spastic paraplegia type 42, slc33a1, slc33a1 autosomal dominant pure spastic paraplegia, spastic paraplegia 42, spastic paraplegia 42, autosomal dominant, spg42, 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="A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=393407
|
||
ConceptID=C2675528
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary spastic paraplegia 42<span class="h1sub">(SPG42)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393407</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:">C2675528</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Spastic Paraplegia 42; SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal dominant spastic paraplegia type 42 (763070001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SLC33A1 - ID: 9197 - NCBI Gene" href="/gene/9197" class="medgenPMinfo">SLC33A1</a> (3q25.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012928" target="_blank">MONDO:0012928</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612539" target="_blank">612539</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171863">ORPHA171863</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">
|
||
<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">A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20882"><div><strong>Spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20882</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.">C0037772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity and weakness of the leg and hip muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20882">Feature record</a> | <a href="/medgen?term=%22Spastic%20paraplegia%22%5BClinical%20Features%5D%20OR%2020882%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_322973"><div><strong>Lower limb hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322973</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.">C1836696</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased intensity of the a reflex in the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322973">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20hyperreflexia%22%5BClinical%20Features%5D%20OR%20322973%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb hyperreflexia</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675528[DISCUI]&test_type=Clinical" ref="ncbi_uid=393407">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393407" target="_blank" href="/omim/603690">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393407" ref="ncbi_uid=393407">V</a></span></span><span class="TLline">Hereditary spastic paraplegia 42</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842285" ref="tree=MeSH" title="MedGen record for Autosomal dominant pure spastic paraplegia">Autosomal dominant pure spastic paraplegia</a></span><ul><li><span class="matched_ds">Hereditary spastic paraplegia 42</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=17945&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary spastic paraplegia 42</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37783799">Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Pol LA,
|
||
Burgert N,
|
||
van Schie PEM,
|
||
Slot KM,
|
||
Gouw AA,
|
||
Buizer AI</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Mar;40(3):855-861.
|
||
Epub 2023 Oct 3
|
||
doi: 10.1007/s00381-023-06159-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37783799" target="_blank">37783799</a><a href="/pmc/articles/PMC10891194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36515702">Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leighton DJ,
|
||
Ansari M,
|
||
Newton J,
|
||
Parry D,
|
||
Cleary E,
|
||
Colville S,
|
||
Stephenson L,
|
||
Larraz J,
|
||
Johnson M,
|
||
Beswick E,
|
||
Wong M,
|
||
Gregory J,
|
||
Carod Artal J,
|
||
Davenport R,
|
||
Duncan C,
|
||
Morrison I,
|
||
Smith C,
|
||
Swingler R,
|
||
Deary IJ,
|
||
Porteous M,
|
||
Aitman TJ,
|
||
Chandran S,
|
||
Gorrie GH,
|
||
Pal S;
|
||
Lothian Birth Cohorts Group;
|
||
and the CARE-MND Consortium</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Mar;270(3):1702-1712.
|
||
Epub 2022 Dec 14
|
||
doi: 10.1007/s00415-022-11505-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36515702" target="_blank">36515702</a><a href="/pmc/articles/PMC9971124" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2042)%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 (2)</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/38687249">Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos Silva C,
|
||
Correia Rodrigues C,
|
||
Fortuna Baptista M,
|
||
Oliveira Santos M,
|
||
Gromicho M,
|
||
Carvalho V,
|
||
Correia Guedes L,
|
||
de Carvalho M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2024 Jul;70(1):152-156.
|
||
Epub 2024 Apr 30
|
||
doi: 10.1002/mus.28100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38687249" target="_blank">38687249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35499206">Novel insights into the genetic profile of hereditary spastic paraplegia in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narendiran S,
|
||
Debnath M,
|
||
Shivaram S,
|
||
Kannan R,
|
||
Sharma S,
|
||
Christopher R,
|
||
Seshagiri DV,
|
||
Jain S,
|
||
Purushottam M,
|
||
Mangalore S,
|
||
Bharath RD,
|
||
Bindu PS,
|
||
Sinha S,
|
||
Taly AB,
|
||
Nagappa M</span><br />
|
||
<span class="medgenPMjournal">J Neurogenet</span>
|
||
2022 Mar;36(1):21-31.
|
||
Epub 2022 May 2
|
||
doi: 10.1080/01677063.2022.2064463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35499206" target="_blank">35499206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478946">Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Servelhere KR,
|
||
Casseb RF,
|
||
de Lima FD,
|
||
Rezende TJR,
|
||
Ramalho LP,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2021 Mar;42(3):610-615.
|
||
Epub 2021 Jan 21
|
||
doi: 10.3174/ajnr.A7017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478946" target="_blank">33478946</a><a href="/pmc/articles/PMC7959414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33439395">Hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murala S,
|
||
Nagarajan E,
|
||
Bollu PC</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 Mar;42(3):883-894.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1007/s10072-020-04981-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33439395" target="_blank">33439395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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/37091525">VCP-related myopathy: a case series and a review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iannibelli E,
|
||
Gibertini S,
|
||
Cheli M,
|
||
Blasevich F,
|
||
Cavaliere A,
|
||
Riolo G,
|
||
Ruggieri A,
|
||
Maggi L</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2023;42(1):2-13.
|
||
Epub 2023 Mar 31
|
||
doi: 10.36185/2532-1900-244.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37091525" target="_blank">37091525</a><a href="/pmc/articles/PMC10115396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34983064">Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méreaux JL,
|
||
Banneau G,
|
||
Papin M,
|
||
Coarelli G,
|
||
Valter R,
|
||
Raymond L,
|
||
Kol B,
|
||
Ariste O,
|
||
Parodi L,
|
||
Tissier L,
|
||
Mairey M,
|
||
Ait Said S,
|
||
Gautier C,
|
||
Guillaud-Bataille M;
|
||
French SPATAX clinical network,
|
||
Forlani S,
|
||
de la Grange P,
|
||
Brice A,
|
||
Vazza G,
|
||
Durr A,
|
||
Leguern E,
|
||
Stevanin G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 29;145(3):1029-1037.
|
||
doi: 10.1093/brain/awab386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983064" target="_blank">34983064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33439395">Hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murala S,
|
||
Nagarajan E,
|
||
Bollu PC</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 Mar;42(3):883-894.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1007/s10072-020-04981-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33439395" target="_blank">33439395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33409823">ALS2-related disorders in Spanish children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nogueira E,
|
||
Alarcón J,
|
||
Garma C,
|
||
Paredes C</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 May;42(5):2091-2094.
|
||
Epub 2021 Jan 7
|
||
doi: 10.1007/s10072-020-04899-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33409823" target="_blank">33409823</a><a href="/pmc/articles/PMC8043897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38651515">Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tu Y,
|
||
Liu Y,
|
||
Fan S,
|
||
Weng J,
|
||
Li M,
|
||
Zhang F,
|
||
Fu Y,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Aug;31(8):e16310.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1111/ene.16310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651515" target="_blank">38651515</a><a href="/pmc/articles/PMC11235729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37783799">Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Pol LA,
|
||
Burgert N,
|
||
van Schie PEM,
|
||
Slot KM,
|
||
Gouw AA,
|
||
Buizer AI</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Mar;40(3):855-861.
|
||
Epub 2023 Oct 3
|
||
doi: 10.1007/s00381-023-06159-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37783799" target="_blank">37783799</a><a href="/pmc/articles/PMC10891194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24973568">Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margetis K,
|
||
Korfias S,
|
||
Boutos N,
|
||
Gatzonis S,
|
||
Themistocleous M,
|
||
Siatouni A,
|
||
Dalivigka Z,
|
||
Flaskas T,
|
||
Stranjalis G,
|
||
Boviatsis E,
|
||
Sakas D</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2014 Aug;123:142-5.
|
||
Epub 2014 Jun 4
|
||
doi: 10.1016/j.clineuro.2014.05.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24973568" target="_blank">24973568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7920673">Voiding dysfunction in patients with spastic paraplegia: urodynamic evaluation and response to continuous intrathecal baclofen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bushman W,
|
||
Steers WD,
|
||
Meythaler JM</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
1993;12(2):163-70.
|
||
doi: 10.1002/nau.1930120210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7920673" target="_blank">7920673</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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/34983064">Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méreaux JL,
|
||
Banneau G,
|
||
Papin M,
|
||
Coarelli G,
|
||
Valter R,
|
||
Raymond L,
|
||
Kol B,
|
||
Ariste O,
|
||
Parodi L,
|
||
Tissier L,
|
||
Mairey M,
|
||
Ait Said S,
|
||
Gautier C,
|
||
Guillaud-Bataille M;
|
||
French SPATAX clinical network,
|
||
Forlani S,
|
||
de la Grange P,
|
||
Brice A,
|
||
Vazza G,
|
||
Durr A,
|
||
Leguern E,
|
||
Stevanin G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 29;145(3):1029-1037.
|
||
doi: 10.1093/brain/awab386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983064" target="_blank">34983064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33870938">Neuro-Ophthalmic Phenotype of OPA3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huna-Baron R,
|
||
Yahalom G,
|
||
Anikster Y,
|
||
Ben Zeev B,
|
||
Hoffmann C,
|
||
Hassin-Baer S</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Mar 1;42(1):e147-e152.
|
||
Epub 2021 Apr 14
|
||
doi: 10.1097/WNO.0000000000001249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33870938" target="_blank">33870938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32447552">SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osmanovic A,
|
||
Widjaja M,
|
||
Förster A,
|
||
Weder J,
|
||
Wattjes MP,
|
||
Lange I,
|
||
Sarikidi A,
|
||
Auber B,
|
||
Raab P,
|
||
Christians A,
|
||
Preller M,
|
||
Petri S,
|
||
Weber RG</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2020 Sep;267(9):2732-2743.
|
||
Epub 2020 May 23
|
||
doi: 10.1007/s00415-020-09861-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32447552" target="_blank">32447552</a><a href="/pmc/articles/PMC7419373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25402622">Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mao F,
|
||
Li Z,
|
||
Zhao B,
|
||
Lin P,
|
||
Liu P,
|
||
Zhai M,
|
||
Liu Q,
|
||
Shao C,
|
||
Sun W,
|
||
Gong Y</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Feb;36(2):240-9.
|
||
doi: 10.1002/humu.22732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25402622" target="_blank">25402622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11685207">Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao X,
|
||
Alvarado D,
|
||
Rainier S,
|
||
Lemons R,
|
||
Hedera P,
|
||
Weber CH,
|
||
Tukel T,
|
||
Apak M,
|
||
Heiman-Patterson T,
|
||
Ming L,
|
||
Bui M,
|
||
Fink JK</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2001 Nov;29(3):326-31.
|
||
doi: 10.1038/ng758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11685207" target="_blank">11685207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38687249">Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos Silva C,
|
||
Correia Rodrigues C,
|
||
Fortuna Baptista M,
|
||
Oliveira Santos M,
|
||
Gromicho M,
|
||
Carvalho V,
|
||
Correia Guedes L,
|
||
de Carvalho M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2024 Jul;70(1):152-156.
|
||
Epub 2024 Apr 30
|
||
doi: 10.1002/mus.28100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38687249" target="_blank">38687249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34983064">Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méreaux JL,
|
||
Banneau G,
|
||
Papin M,
|
||
Coarelli G,
|
||
Valter R,
|
||
Raymond L,
|
||
Kol B,
|
||
Ariste O,
|
||
Parodi L,
|
||
Tissier L,
|
||
Mairey M,
|
||
Ait Said S,
|
||
Gautier C,
|
||
Guillaud-Bataille M;
|
||
French SPATAX clinical network,
|
||
Forlani S,
|
||
de la Grange P,
|
||
Brice A,
|
||
Vazza G,
|
||
Durr A,
|
||
Leguern E,
|
||
Stevanin G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 29;145(3):1029-1037.
|
||
doi: 10.1093/brain/awab386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983064" target="_blank">34983064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478946">Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Servelhere KR,
|
||
Casseb RF,
|
||
de Lima FD,
|
||
Rezende TJR,
|
||
Ramalho LP,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2021 Mar;42(3):610-615.
|
||
Epub 2021 Jan 21
|
||
doi: 10.3174/ajnr.A7017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478946" target="_blank">33478946</a><a href="/pmc/articles/PMC7959414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25402622">Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mao F,
|
||
Li Z,
|
||
Zhao B,
|
||
Lin P,
|
||
Liu P,
|
||
Zhai M,
|
||
Liu Q,
|
||
Shao C,
|
||
Sun W,
|
||
Gong Y</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Feb;36(2):240-9.
|
||
doi: 10.1002/humu.22732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25402622" target="_blank">25402622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11685207">Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao X,
|
||
Alvarado D,
|
||
Rainier S,
|
||
Lemons R,
|
||
Hedera P,
|
||
Weber CH,
|
||
Tukel T,
|
||
Apak M,
|
||
Heiman-Patterson T,
|
||
Ming L,
|
||
Bui M,
|
||
Fink JK</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2001 Nov;29(3):326-31.
|
||
doi: 10.1038/ng758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11685207" target="_blank">11685207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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 (23)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33847017">Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neuser S,
|
||
Brechmann B,
|
||
Heimer G,
|
||
Brösse I,
|
||
Schubert S,
|
||
O'Grady L,
|
||
Zech M,
|
||
Srivastava S,
|
||
Sweetser DA,
|
||
Dincer Y,
|
||
Mall V,
|
||
Winkelmann J,
|
||
Behrends C,
|
||
Darras BT,
|
||
Graham RJ,
|
||
Jayakar P,
|
||
Byrne B,
|
||
Bar-Aluma BE,
|
||
Haberman Y,
|
||
Szeinberg A,
|
||
Aldhalaan HM,
|
||
Hashem M,
|
||
Al Tenaiji A,
|
||
Ismayl O,
|
||
Al Nuaimi AE,
|
||
Maher K,
|
||
Ibrahim S,
|
||
Khan F,
|
||
Houlden H,
|
||
Ramakumaran VS,
|
||
Pagnamenta AT,
|
||
Posey JE,
|
||
Lupski JR,
|
||
Tan WH,
|
||
ElGhazali G,
|
||
Herman I,
|
||
Muñoz T,
|
||
Repetto GM,
|
||
Seitz A,
|
||
Krumbiegel M,
|
||
Poli MC,
|
||
Kini U,
|
||
Efthymiou S,
|
||
Meiler J,
|
||
Maroofian R,
|
||
Alkuraya FS,
|
||
Abou Jamra R,
|
||
Popp B,
|
||
Ben-Zeev B,
|
||
Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 Jun;42(6):762-776.
|
||
Epub 2021 May 11
|
||
doi: 10.1002/humu.24206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33847017" target="_blank">33847017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2042%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2675528%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675528%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675528%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675528%5bDISCUI%5d" target="_blank">See all (32)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612539" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=171863" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20spastic%20paraplegia%2042" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2042)%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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||
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|
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=603690" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9197[geneid]" target="_blank">View SLC33A1 variations in ClinVar</a></li><li><a href="/nuccore/300795692" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612539" 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/spastic_paraplegia_42_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hereditary%20spastic%20paraplegia%2042" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17073/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Hereditary%20spastic%20paraplegia%2042" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Hereditary%20spastic%20paraplegia%2042%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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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=393407" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=393407" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb527ab15b832ebc07ab44">Hereditary spastic paraplegia 42</a>
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<div class="ralinkpop offscreen_noflow">Hereditary spastic paraplegia 42<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5278f4a390645e3ccaad">C1866855[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(96)</span></a>
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<div class="ralinkpop offscreen_noflow">C1866855[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5278b15b832ebc07a45e">C2675528[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb527784f3725e59391e78">C2931355[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(45)</span></a>
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<div class="ralinkpop offscreen_noflow">C2931355[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb527684f3725e59391756">C2677586[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(119)</span></a>
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<div class="ralinkpop offscreen_noflow">C2677586[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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