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<meta name="keywords" content="C3810289, autosomal recessive complex spastic paraplegia caused by mutation in entpd1, autosomal recessive spastic paraplegia 64, autosomal recessive spastic paraplegia type 64, disease or syndrome, entpd1, entpd1 autosomal recessive complex spastic paraplegia, hereditary spastic paraplegia 64, hereditary spastic paraplegia type 64, spastic paraplegia 64, autosomal recessive, spg64, 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="ENTPD1-related neurodevelopmental disorder (ENTPD1-NDD) is characterized by developmental delay / intellectual disability (ranging from borderline/mild to moderate/severe) and onset of progressive spastic paraplegia with progressive gait impairment beginning before age five years. Difficulty with balance and frequent falling are common and can result in loss of independent ambulation and wheelchair dependence in the teenage to young adult years. Other neuromuscular findings can include abnormal deep tendon reflexes, weakness, neuropathy, epilepsy, dysarthria, and dysphagia. Behavior abnormalities and neurocognitive regression are common. Life span does not appear to be shortened." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=816619
|
||
ConceptID=C3810289
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK592266/bin/entpd1-ndd-Image001.gif" src-large="/books/NBK592266/bin/entpd1-ndd-Image001.jpg" /></a><br /><a href="/books/NBK592266/figure/entpd1-ndd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary spastic paraplegia 64<span class="h1sub">(SPG64)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816619</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:">C3810289</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spastic paraplegia 64, autosomal recessive</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive spastic paraplegia type 64 (726609005)</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="ENTPD1 - ID: 953 - NCBI Gene" href="/gene/953" class="medgenPMinfo">ENTPD1</a> (10q24.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014303" target="_blank">MONDO:0014303</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615683" target="_blank">615683</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=401810">ORPHA401810</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK592266" target="_blank">ENTPD1-Related Neurodevelopmental Disorder</a></div><div>ENTPD1-related neurodevelopmental disorder (ENTPD1-NDD) is characterized by developmental delay / intellectual disability (ranging from borderline/mild to moderate/severe) and onset of progressive spastic paraplegia with progressive gait impairment beginning before age five years. Difficulty with balance and frequent falling are common and can result in loss of independent ambulation and wheelchair dependence in the teenage to young adult years. Other neuromuscular findings can include abnormal deep tendon reflexes, weakness, neuropathy, epilepsy, dysarthria, and dysphagia. Behavior abnormalities and neurocognitive regression are common. Life span does not appear to be shortened. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Summary" target="NBK592266">Summary</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Diagnosis" target="NBK592266">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Clinical_Characteristics" target="NBK592266">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Genetically_Related_Allelic_D" target="NBK592266">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Differential_Diagnosis" target="NBK592266">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Management" target="NBK592266">Management</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Genetic_Counseling" target="NBK592266">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Resources" target="NBK592266">Resources</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Molecular_Genetics" target="NBK592266">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.Chapter_Notes" target="NBK592266">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK592266#entpd1-ndd.References" target="NBK592266">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Daniel Calame | Isabella Herman <a href="/books/NBK592266" target="NBK592266" title="NCBI Bookshelf: ENTPD1-Related Neurodevelopmental Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Spastic paraplegia-64 (SPG64) is a neurologic disorder characterized by childhood onset of progressive spastic paraplegia with impaired intellectual development, gait impairment, dysarthria, and white matter abnormalities on brain imaging. Some individuals show neurocognitive regression (Calame et al., 2022).
|
||
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). <a target="_blank" href="http://www.omim.org/entry/615683">http://www.omim.org/entry/615683</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%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_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</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.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%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_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_181756"><div><strong>Abnormal cerebral white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181756</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.">C0948163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181756">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebral%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20181756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_46203"><div><strong>Delayed puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46203</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.">C0034012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46203">Feature record</a> | <a href="/medgen?term=%22Delayed%20puberty%22%5BClinical%20Features%5D%20OR%2046203%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%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_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</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_46203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed puberty</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_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebral white matter morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</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_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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</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_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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=C3810289[DISCUI]&test_type=Clinical" ref="ncbi_uid=816619">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816619" target="_blank" href="/omim/601752">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK592266/" ref="ncbi_uid=816619">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816619" ref="ncbi_uid=816619">V</a></span></span><span class="TLline">Hereditary spastic paraplegia 64</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 64</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=22833&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary spastic paraplegia 64</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/11346374">Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou YX,
|
||
Qiao WH,
|
||
Gu WH,
|
||
Xie H,
|
||
Tang BS,
|
||
Zhou LS,
|
||
Yang BX,
|
||
Takiyama Y,
|
||
Tsuji S,
|
||
He HY,
|
||
Deng CX,
|
||
Goldfarb LG,
|
||
Wang GX</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2001 May;58(5):789-94.
|
||
doi: 10.1001/archneur.58.5.789.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11346374" target="_blank">11346374</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2064)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37120112">Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortega Suero G,
|
||
Abenza Abildúa MJ,
|
||
Serrano Munuera C,
|
||
Rouco Axpe I,
|
||
Arpa Gutiérrez FJ,
|
||
Adarmes Gómez AD,
|
||
Rodríguez de Rivera FJ,
|
||
Quintans Castro B,
|
||
Posada Rodríguez I,
|
||
Vadillo Bermejo A,
|
||
Domingo Santos Á,
|
||
Blanco Vicente E,
|
||
Infante Ceberio I,
|
||
Pardo Fernández J,
|
||
Costa Arpín E,
|
||
Painous Martí C,
|
||
Muñoz García JE,
|
||
Mir Rivera P,
|
||
Montón Álvarez F,
|
||
Bataller Alberola L,
|
||
Gascón Bayarri J,
|
||
Casasnovas Pons C,
|
||
Vélez Santamaría V,
|
||
López de Munain A,
|
||
Fernández-Eulate G,
|
||
Gazulla Abío J,
|
||
Sanz Gallego I,
|
||
Rojas Bartolomé L,
|
||
Ayo Martín Ó,
|
||
Segura Martín T,
|
||
González Mingot C,
|
||
Baraldés Rovira M,
|
||
Sivera Mascaró R,
|
||
Cubo Delgado E,
|
||
Echavarría Íñiguez A,
|
||
Vázquez Sánchez F,
|
||
Bártulos Iglesias M,
|
||
Casadevall Codina MT,
|
||
Martínez Fernández EM,
|
||
Labandeira Guerra C,
|
||
Alemany Perna B,
|
||
Carvajal Hernández A,
|
||
Fernández Moreno C,
|
||
Palacín Larroy M,
|
||
Caballol Pons N,
|
||
Ávila Rivera A,
|
||
Navacerrada Barrero FJ,
|
||
Lobato Rodríguez R,
|
||
Sobrido Gómez MJ</span><br />
|
||
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
|
||
2023 Jul-Aug;38(6):379-386.
|
||
Epub 2023 Apr 28
|
||
doi: 10.1016/j.nrleng.2023.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37120112" target="_blank">37120112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107650">Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legrand A,
|
||
Pujol C,
|
||
Durand CM,
|
||
Mesnil A,
|
||
Rubera I,
|
||
Duranton C,
|
||
Zuily S,
|
||
Sousa AB,
|
||
Renaud M,
|
||
Boucher JL,
|
||
Pietrancosta N,
|
||
Adham S,
|
||
Orssaud C,
|
||
Marelli C,
|
||
Casali C,
|
||
Ziccardi L,
|
||
Villain N,
|
||
Ewenczyk C,
|
||
Durr A,
|
||
Mignot C,
|
||
Stevanin G,
|
||
Billon C,
|
||
Hureaux M,
|
||
Jeunemaitre X,
|
||
Goizet C,
|
||
Albuisson J</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2021 May;289(5):709-725.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1111/joim.13193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107650" target="_blank">33107650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
||
Miller SP,
|
||
Bourinaris T,
|
||
Houlden H,
|
||
Robelin L,
|
||
Anheim M,
|
||
Alamri AS,
|
||
Mahmoud AAH,
|
||
Inaloo S,
|
||
Habibzadeh P,
|
||
Faghihi MA,
|
||
Jansen AC,
|
||
Brock S,
|
||
Roubertie A,
|
||
Darras BT,
|
||
Agrawal PB,
|
||
Santorelli FM,
|
||
Gleeson J,
|
||
Zaki MS,
|
||
Sheikh SI,
|
||
Bennett JT,
|
||
Sahin M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Oct 1;143(10):2929-2944.
|
||
doi: 10.1093/brain/awz307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32979048" target="_blank">32979048</a><a href="/pmc/articles/PMC7780481" target="_blank" class="PubMedFree">Free PMC Article</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/30302010">PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koh K,
|
||
Ichinose Y,
|
||
Ishiura H,
|
||
Nan H,
|
||
Mitsui J,
|
||
Takahashi J,
|
||
Sato W,
|
||
Itoh Y,
|
||
Hoshino K,
|
||
Tsuji S,
|
||
Takiyama Y;
|
||
Japan Spastic Paraplegia Research Consotium</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2019 Jan;64(1):55-59.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1038/s10038-018-0519-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30302010" target="_blank">30302010</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2064%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37120112">Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortega Suero G,
|
||
Abenza Abildúa MJ,
|
||
Serrano Munuera C,
|
||
Rouco Axpe I,
|
||
Arpa Gutiérrez FJ,
|
||
Adarmes Gómez AD,
|
||
Rodríguez de Rivera FJ,
|
||
Quintans Castro B,
|
||
Posada Rodríguez I,
|
||
Vadillo Bermejo A,
|
||
Domingo Santos Á,
|
||
Blanco Vicente E,
|
||
Infante Ceberio I,
|
||
Pardo Fernández J,
|
||
Costa Arpín E,
|
||
Painous Martí C,
|
||
Muñoz García JE,
|
||
Mir Rivera P,
|
||
Montón Álvarez F,
|
||
Bataller Alberola L,
|
||
Gascón Bayarri J,
|
||
Casasnovas Pons C,
|
||
Vélez Santamaría V,
|
||
López de Munain A,
|
||
Fernández-Eulate G,
|
||
Gazulla Abío J,
|
||
Sanz Gallego I,
|
||
Rojas Bartolomé L,
|
||
Ayo Martín Ó,
|
||
Segura Martín T,
|
||
González Mingot C,
|
||
Baraldés Rovira M,
|
||
Sivera Mascaró R,
|
||
Cubo Delgado E,
|
||
Echavarría Íñiguez A,
|
||
Vázquez Sánchez F,
|
||
Bártulos Iglesias M,
|
||
Casadevall Codina MT,
|
||
Martínez Fernández EM,
|
||
Labandeira Guerra C,
|
||
Alemany Perna B,
|
||
Carvajal Hernández A,
|
||
Fernández Moreno C,
|
||
Palacín Larroy M,
|
||
Caballol Pons N,
|
||
Ávila Rivera A,
|
||
Navacerrada Barrero FJ,
|
||
Lobato Rodríguez R,
|
||
Sobrido Gómez MJ</span><br />
|
||
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
|
||
2023 Jul-Aug;38(6):379-386.
|
||
Epub 2023 Apr 28
|
||
doi: 10.1016/j.nrleng.2023.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37120112" target="_blank">37120112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315648">The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Kellner M,
|
||
Jordan C,
|
||
Rosengarten H,
|
||
Mo A,
|
||
Zhang B,
|
||
Strelko O,
|
||
Neuser S,
|
||
Davis MY,
|
||
Yoshikura N,
|
||
Futamura N,
|
||
Takeuchi T,
|
||
Nabatame S,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Aldeen HS,
|
||
Cali E,
|
||
Rocca C,
|
||
Houlden H,
|
||
Efthymiou S,
|
||
Assmann B,
|
||
Yoon G,
|
||
Trombetta BA,
|
||
Kivisäkk P,
|
||
Eichler F,
|
||
Nan H,
|
||
Takiyama Y,
|
||
Tessa A,
|
||
Santorelli FM,
|
||
Sahin M,
|
||
Blackstone C,
|
||
Yang E,
|
||
Schüle R,
|
||
Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 May 2;146(5):2003-2015.
|
||
doi: 10.1093/brain/awac391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315648" target="_blank">36315648</a><a href="/pmc/articles/PMC10411936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
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<div class="nl"><a target="_blank" href="/pubmed/31515523">SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leveille E,
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Estiar MA,
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Krohn L,
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Spiegelman D,
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Dionne-Laporte A,
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Dupré N,
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Rouleau GA,
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Epub 2019 Sep 12
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<span class="bold">PMID: </span><a href="/pubmed/31515523" target="_blank">31515523</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30489674">Autonomic dysfunction in hereditary spastic paraplegia type 4.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2064%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 (15)</a></div></div>
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</div>
|
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</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class=" bottom">
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||
</div>
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||
|
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<!-- MedGen supplemental column starts here -->
|
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3810289%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810289%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810289%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3810289%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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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=615683" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=401810" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20spastic%20paraplegia%2064" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2064)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601752" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=953[geneid]" target="_blank">View ENTPD1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615683" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/37262206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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|
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<a href="/pubmed?term=Hereditary%20spastic%20paraplegia%2064%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=816619" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=816619" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca73f084f3725e596a0699">Hereditary spastic paraplegia 64</a>
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<div class="ralinkpop offscreen_noflow">Hereditary spastic paraplegia 64<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca73efb15b832ebc3c6307">C3810289[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca73eeb15b832ebc3c5d10">C3810295[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(308)</span></a>
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<div class="ralinkpop offscreen_noflow">C3810295[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca73edf4a390645e7523a3">Hereditary spastic paraplegia 63</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca73ebf4a390645e751bd7">C4284588[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(98)</span></a>
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<div class="ralinkpop offscreen_noflow">C4284588[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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