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<meta name="keywords" content="C1836632, autosomal recessive spastic paraplegia 26, autosomal recessive spastic paraplegia type 26, b4galnt1, disease or syndrome, gm2 synthase deficiency, hereditary spastic paraplegia 26, hereditary spastic paraplegia type 26, spastic paraplegia 26, spastic paraplegia 26, autosomal recessive, spg26, 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="SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=373138
|
||
ConceptID=C1836632
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary spastic paraplegia 26<span class="h1sub">(SPG26)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373138</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:">C1836632</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 26; SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive spastic paraplegia type 26 (726607007); GM2 synthase deficiency (726607007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive 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="B4GALNT1 - ID: 2583 - NCBI Gene" href="/gene/2583" class="medgenPMinfo">B4GALNT1</a> (12q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012213" target="_blank">MONDO:0012213</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609195" target="_blank">609195</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=101006">ORPHA101006</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">SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_39315"><div><strong>Urinary urgency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39315</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.">C0085606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Urge incontinence is the strong, sudden need to urinate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39315">Feature record</a> | <a href="/medgen?term=%22Urinary%20urgency%22%5BClinical%20Features%5D%20OR%2039315%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_305607"><div><strong>Upper limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>305607</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.">C1698196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the arms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/305607">Feature record</a> | <a href="/medgen?term=%22Upper%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20305607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324478"><div><strong>Lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324478</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.">C1836296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324478">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</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.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%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_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%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_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98104"><div><strong>Tip-toe gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98104</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.">C0427144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98104">Feature record</a> | <a href="/medgen?term=%22Tip-toe%20gait%22%5BClinical%20Features%5D%20OR%2098104%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220865"><div><strong>Lower limb spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220865</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.">C1271100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220865">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20spasticity%22%5BClinical%20Features%5D%20OR%20220865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220882"><div><strong>Upper limb spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220882</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.">C1273957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220882">Feature record</a> | <a href="/medgen?term=%22Upper%20limb%20spasticity%22%5BClinical%20Features%5D%20OR%20220882%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220959"><div><strong>Impaired vibratory sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220959</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.">C1295585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220959">Feature record</a> | <a href="/medgen?term=%22Impaired%20vibratory%20sensation%22%5BClinical%20Features%5D%20OR%20220959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163408"><div><strong>Frequent falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163408</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.">C0850703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163408">Feature record</a> | <a href="/medgen?term=%22Frequent%20falls%22%5BClinical%20Features%5D%20OR%20163408%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324515"><div><strong>Distal lower limb amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324515</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.">C1836451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy of distal leg muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324515">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20amyotrophy%22%5BClinical%20Features%5D%20OR%20324515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892974"><div><strong>Decreased serum testosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892974</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.">C4073137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892974">Feature record</a> | <a href="/medgen?term=%22Decreased%20serum%20testosterone%20concentration%22%5BClinical%20Features%5D%20OR%20892974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867997"><div><strong>Posterior capsular cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867997</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.">C4022388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867997">Feature record</a> | <a href="/medgen?term=%22Posterior%20capsular%20cataract%22%5BClinical%20Features%5D%20OR%20867997%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_324478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb muscle weakness</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_305607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper limb muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased serum testosterone concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior capsular cataract</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary urgency</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_324515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frequent falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired vibratory sensation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb spasticity</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tip-toe gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper limb spasticity</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=C1836632[DISCUI]&test_type=Clinical" ref="ncbi_uid=373138">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373138" target="_blank" href="/omim/601873">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=373138" ref="ncbi_uid=373138">V</a></span></span><span class="TLline">Hereditary spastic paraplegia 26</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843346" ref="tree=MeSH" title="MedGen record for Autosomal recessive complex spastic paraplegia">Autosomal recessive complex spastic paraplegia</a></span><ul><li><span class="matched_ds">Hereditary spastic paraplegia 26</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=14717&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary spastic paraplegia 26</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/37119330">AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng R,
|
||
Medico-Salsench E,
|
||
Nikoncuk A,
|
||
Ramakrishnan R,
|
||
Lanko K,
|
||
Kühn NA,
|
||
van der Linde HC,
|
||
Lor-Zade S,
|
||
Albuainain F,
|
||
Shi Y,
|
||
Yousefi S,
|
||
Capo I,
|
||
van den Herik EM,
|
||
van Slegtenhorst M,
|
||
van Minkelen R,
|
||
Geeven G,
|
||
Mulder MT,
|
||
Ruijter GJG,
|
||
Lütjohann D,
|
||
Jacobs EH,
|
||
Houlden H,
|
||
Pagnamenta AT,
|
||
Metcalfe K,
|
||
Jackson A,
|
||
Banka S,
|
||
De Simone L,
|
||
Schwaede A,
|
||
Kuntz N,
|
||
Palculict TB,
|
||
Abbas S,
|
||
Umair M,
|
||
AlMuhaizea M,
|
||
Colak D,
|
||
AlQudairy H,
|
||
Alsagob M,
|
||
Pereira C,
|
||
Trunzo R,
|
||
Karageorgou V,
|
||
Bertoli-Avella AM,
|
||
Bauer P,
|
||
Bouman A,
|
||
Hoefsloot LH,
|
||
van Ham TJ,
|
||
Issa M,
|
||
Zaki MS,
|
||
Gleeson JG,
|
||
Willemsen R,
|
||
Kaya N,
|
||
Arold ST,
|
||
Maroofian R,
|
||
Sanderson LE,
|
||
Barakat TS</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2023 Aug;146(2):353-368.
|
||
Epub 2023 Apr 29
|
||
doi: 10.1007/s00401-023-02579-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37119330" target="_blank">37119330</a><a href="/pmc/articles/PMC10328903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34167574">Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerstens HCJW,
|
||
Van Lith BJH,
|
||
Nijkrake MJ,
|
||
De Swart BJM,
|
||
Van den Bemd LAC,
|
||
Smeets RJEM,
|
||
Klemens F,
|
||
Van de Warrenburg BPC,
|
||
Van der Wees PJ,
|
||
Geurts ACH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jun 24;16(1):283.
|
||
doi: 10.1186/s13023-021-01915-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34167574" target="_blank">34167574</a><a href="/pmc/articles/PMC8223283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891881">How are genetic test results being used by Australian life insurers?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barlow-Stewart K,
|
||
Liepins M,
|
||
Doble A,
|
||
Otlowski M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Sep;26(9):1248-1256.
|
||
Epub 2018 Jun 11
|
||
doi: 10.1038/s41431-018-0198-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891881" target="_blank">29891881</a><a href="/pmc/articles/PMC6117272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2026)%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 (4)</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/36441344">Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fereshtehnejad SM,
|
||
Saleh PA,
|
||
Oliveira LM,
|
||
Patel N,
|
||
Bhowmick S,
|
||
Saranza G,
|
||
Kalia LV</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Mar;44(3):947-959.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1007/s10072-022-06516-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36441344" target="_blank">36441344</a><a href="/pmc/articles/PMC9925593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36396882">Hereditary spastic paraplegia in Mali: epidemiological and clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diarra S,
|
||
Coulibaly T,
|
||
Dembélé K,
|
||
Ngouth N,
|
||
Cissé L,
|
||
Diallo SH,
|
||
Ouologuem M,
|
||
Diallo S,
|
||
Coulibaly O,
|
||
Bagayoko K,
|
||
Coulibaly D,
|
||
Simaga A,
|
||
Sango HA,
|
||
Traoré M,
|
||
Jacobson S,
|
||
Fischbeck KH,
|
||
Landouré G,
|
||
Guinto CO;
|
||
H3Africa consortium</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Dec;123(6):2155-2165.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1007/s13760-022-02113-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36396882" target="_blank">36396882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35472722">The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rattay TW,
|
||
Völker M,
|
||
Rautenberg M,
|
||
Kessler C,
|
||
Wurster I,
|
||
Winter N,
|
||
Haack TB,
|
||
Lindig T,
|
||
Hengel H,
|
||
Synofzik M,
|
||
Schüle R,
|
||
Martus P,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Mar 1;146(3):1093-1102.
|
||
doi: 10.1093/brain/awac155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35472722" target="_blank">35472722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30489674">Autonomic dysfunction in hereditary spastic paraplegia type 4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Salazar C,
|
||
Takazaki KAG,
|
||
Martinez ARM,
|
||
Pimentel-Silva LR,
|
||
Jacinto-Scudeiro LA,
|
||
Nakagawa ÉY,
|
||
Fujiwara Murakami CE,
|
||
Saute JAM,
|
||
Pedroso JL,
|
||
Barsottini OGP,
|
||
Teive HAG,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2019 Apr;26(4):687-693.
|
||
Epub 2019 Jan 10
|
||
doi: 10.1111/ene.13878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30489674" target="_blank">30489674</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>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
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Melo C,
|
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Silva MC,
|
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Coutinho P</span><br />
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<span class="medgenPMjournal">Neuroepidemiology</span>
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2014;42(3):174-83.
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Epub 2014 Mar 5
|
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doi: 10.1159/000358801.
|
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<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36441344">Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fereshtehnejad SM,
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Saleh PA,
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Oliveira LM,
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Patel N,
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Bhowmick S,
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Saranza G,
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Kalia LV</span><br />
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<span class="medgenPMjournal">Neurol Sci</span>
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2023 Mar;44(3):947-959.
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Epub 2022 Nov 28
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doi: 10.1007/s10072-022-06516-8.
|
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<span class="bold">PMID: </span><a href="/pubmed/36441344" target="_blank">36441344</a><a href="/pmc/articles/PMC9925593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29453415">ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tunca C,
|
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Akçimen F,
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Coşkun C,
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Gündoğdu-Eken A,
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Kocoglu C,
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Çevik B,
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Bekircan-Kurt CE,
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Tan E,
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Başak AN</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2018 May;26(5):745-748.
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Epub 2018 Feb 16
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doi: 10.1038/s41431-018-0107-5.
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<span class="bold">PMID: </span><a href="/pubmed/29453415" target="_blank">29453415</a><a href="/pmc/articles/PMC5945623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<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>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
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Melo C,
|
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Silva MC,
|
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Coutinho P</span><br />
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<span class="medgenPMjournal">Neuroepidemiology</span>
|
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2014;42(3):174-83.
|
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Epub 2014 Mar 5
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doi: 10.1159/000358801.
|
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<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
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Nessa A,
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Esmy PO,
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Dangou JM</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
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2012 Apr;26(2):221-32.
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Epub 2011 Nov 9
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doi: 10.1016/j.bpobgyn.2011.08.003.
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<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14083224">HEREDITARY SPASTIC PARAPLEGIA.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">ROE PF</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
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1963 Dec;26(6):516-9.
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doi: 10.1136/jnnp.26.6.516.
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<span class="bold">PMID: </span><a href="/pubmed/14083224" target="_blank">14083224</a><a href="/pmc/articles/PMC495630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (47)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37119330">AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deng R,
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Shi Y,
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Capo I,
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2023 Aug;146(2):353-368.
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Epub 2023 Apr 29
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<span class="bold">PMID: </span><a href="/pubmed/37119330" target="_blank">37119330</a><a href="/pmc/articles/PMC10328903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33714697">AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
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Brown RH Jr,
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<span class="medgenPMjournal">Trends Mol Med</span>
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2021 Jun;27(6):520-523.
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<span class="bold">PMID: </span><a href="/pubmed/33714697" target="_blank">33714697</a><a href="/pmc/articles/PMC8840833" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29518090">Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pulido-Valdeolivas I,
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Gómez-Andrés D,
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Martín-Gonzalo JA,
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Rodríguez-Andonaegui I,
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<span class="bold">PMID: </span><a href="/pubmed/29518090" target="_blank">29518090</a><a href="/pmc/articles/PMC5843164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24973568">Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Margetis K,
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Korfias S,
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Boutos N,
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<span class="bold">PMID: </span><a href="/pubmed/24973568" target="_blank">24973568</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
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Nessa A,
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Esmy PO,
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Dangou JM</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
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2012 Apr;26(2):221-32.
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Epub 2011 Nov 9
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doi: 10.1016/j.bpobgyn.2011.08.003.
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<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39033379">Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alstrup M,
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Scalise R,
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Santorelli FM,
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Shillington A,
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Vezain M,
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Stevens C,
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Gowda VK,
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Srinivasan VM,
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Thiffault I,
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Pastinen T,
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Baranano K,
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Lee A,
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Granadillo J,
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Glassford MR,
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Keegan CE,
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Matthews N,
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<span class="medgenPMjournal">Genet Med</span>
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2024 Nov;26(11):101219.
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Epub 2024 Jul 18
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doi: 10.1016/j.gim.2024.101219.
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<span class="bold">PMID: </span><a href="/pubmed/39033379" target="_blank">39033379</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36396882">Hereditary spastic paraplegia in Mali: epidemiological and clinical features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Diarra S,
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Coulibaly T,
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Dembélé K,
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Ngouth N,
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Cissé L,
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Diallo SH,
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Ouologuem M,
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Diallo S,
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Coulibaly O,
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Bagayoko K,
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Coulibaly D,
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Simaga A,
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Sango HA,
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Traoré M,
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Jacobson S,
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Fischbeck KH,
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Landouré G,
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Guinto CO;
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H3Africa consortium</span><br />
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<span class="medgenPMjournal">Acta Neurol Belg</span>
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2023 Dec;123(6):2155-2165.
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Epub 2022 Nov 17
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doi: 10.1007/s13760-022-02113-w.
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<span class="bold">PMID: </span><a href="/pubmed/36396882" target="_blank">36396882</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35472722">The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rattay TW,
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Völker M,
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Rautenberg M,
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Kessler C,
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Wurster I,
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Winter N,
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Haack TB,
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Lindig T,
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Hengel H,
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Synofzik M,
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Schüle R,
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Martus P,
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Schöls L</span><br />
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<span class="medgenPMjournal">Brain</span>
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2023 Mar 1;146(3):1093-1102.
|
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doi: 10.1093/brain/awac155.
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<span class="bold">PMID: </span><a href="/pubmed/35472722" target="_blank">35472722</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
|
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Nessa A,
|
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Esmy PO,
|
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Dangou JM</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
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2012 Apr;26(2):221-32.
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Epub 2011 Nov 9
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doi: 10.1016/j.bpobgyn.2011.08.003.
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<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3392192">Hereditary spastic paraplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dennis SC,
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Green NE</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop</span>
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1988 Jul-Aug;8(4):413-7.
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<span class="bold">PMID: </span><a href="/pubmed/3392192" target="_blank">3392192</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37154411">Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jacobi H,
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Weiler M,
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Sam G,
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Heiland S,
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Hayes JM,
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Bendszus M,
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Schüle R,
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Hayes JC</span><br />
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<span class="medgenPMjournal">Eur J Neurol</span>
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2023 Aug;30(8):2442-2452.
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Epub 2023 May 26
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doi: 10.1111/ene.15841.
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<span class="bold">PMID: </span><a href="/pubmed/37154411" target="_blank">37154411</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36396882">Hereditary spastic paraplegia in Mali: epidemiological and clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diarra S,
|
||
Coulibaly T,
|
||
Dembélé K,
|
||
Ngouth N,
|
||
Cissé L,
|
||
Diallo SH,
|
||
Ouologuem M,
|
||
Diallo S,
|
||
Coulibaly O,
|
||
Bagayoko K,
|
||
Coulibaly D,
|
||
Simaga A,
|
||
Sango HA,
|
||
Traoré M,
|
||
Jacobson S,
|
||
Fischbeck KH,
|
||
Landouré G,
|
||
Guinto CO;
|
||
H3Africa consortium</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Dec;123(6):2155-2165.
|
||
Epub 2022 Nov 17
|
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doi: 10.1007/s13760-022-02113-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36396882" target="_blank">36396882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35472722">The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rattay TW,
|
||
Völker M,
|
||
Rautenberg M,
|
||
Kessler C,
|
||
Wurster I,
|
||
Winter N,
|
||
Haack TB,
|
||
Lindig T,
|
||
Hengel H,
|
||
Synofzik M,
|
||
Schüle R,
|
||
Martus P,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Mar 1;146(3):1093-1102.
|
||
doi: 10.1093/brain/awac155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35472722" target="_blank">35472722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29453415">ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tunca C,
|
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Akçimen F,
|
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Coşkun C,
|
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Gündoğdu-Eken A,
|
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Kocoglu C,
|
||
Çevik B,
|
||
Bekircan-Kurt CE,
|
||
Tan E,
|
||
Başak AN</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 May;26(5):745-748.
|
||
Epub 2018 Feb 16
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||
doi: 10.1038/s41431-018-0107-5.
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||
<span class="bold">PMID: </span><a href="/pubmed/29453415" target="_blank">29453415</a><a href="/pmc/articles/PMC5945623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
|
||
Nessa A,
|
||
Esmy PO,
|
||
Dangou JM</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Apr;26(2):221-32.
|
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Epub 2011 Nov 9
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doi: 10.1016/j.bpobgyn.2011.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (29)</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/36441344">Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fereshtehnejad SM,
|
||
Saleh PA,
|
||
Oliveira LM,
|
||
Patel N,
|
||
Bhowmick S,
|
||
Saranza G,
|
||
Kalia LV</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Mar;44(3):947-959.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1007/s10072-022-06516-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36441344" target="_blank">36441344</a><a href="/pmc/articles/PMC9925593" 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 class="nl"><a target="_blank" href="/pubmed/23400676">Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loureiro JL,
|
||
Brandão E,
|
||
Ruano L,
|
||
Brandão AF,
|
||
Lopes AM,
|
||
Thieleke-Matos C,
|
||
Miller-Fleming L,
|
||
Cruz VT,
|
||
Barbosa M,
|
||
Silveira I,
|
||
Stevanin G,
|
||
Pinto-Basto J,
|
||
Sequeiros J,
|
||
Alonso I,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2013 Apr;70(4):481-7.
|
||
doi: 10.1001/jamaneurol.2013.1956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23400676" target="_blank">23400676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2026%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<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=C1836632%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836632%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836632%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1836632%5bDISCUI%5d" target="_blank">See all (21)</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=609195" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=101006" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20spastic%20paraplegia%2026" 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%2026)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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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>
|
||
<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=601873" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2583[geneid]" target="_blank">View B4GALNT1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=609195" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spastic+paraplegia+26/6691" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spastic_paraplegia_26_autosomal_recessive" 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%2026" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9587/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hereditary%20spastic%20paraplegia%2026" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hereditary%20spastic%20paraplegia%2026%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=373138" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=373138" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1836632[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1836632[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=373138" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=373138" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=373138" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=373138" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=373138" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=373138" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
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||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
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||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc8c2b84f3725e59123fb6">Hereditary spastic paraplegia 26</a>
|
||
<div class="ralinkpop offscreen_noflow">Hereditary spastic paraplegia 26<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc8c2984f3725e5912393c">C1836632[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc8c2984f3725e5912390c">C1839264[trait identifier] AND "Women's Health and Genetics/Labor... <span class="number">(2)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1839264[trait identifier] AND "Women's Health and Genetics/Laboratory Corporation of America, LabCorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc8c28b15b832ebcd5207c">C1849128[trait identifier] AND "Women's Health and Genetics/Labor... <span class="number">(6)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1849128[trait identifier] AND "Women's Health and Genetics/Laboratory Corporation of America, LabCorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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