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<meta name="keywords" content="C1853247, autosomal dominant spastic paraplegia 31, autosomal dominant spastic paraplegia type 31, disease or syndrome, hereditary spastic paraplegia 31, hereditary spastic paraplegia caused by mutation in reep1, hereditary spastic paraplegia type 31, reep1, reep1 hereditary spastic paraplegia, spastic paraplegia 31, spastic paraplegia 31, autosomal dominant, spg31, 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="Spastic paraplegia-31 (SPG31) is an autosomal dominant neurologic disorder characterized primarily by spasticity of the lower limbs, resulting in gait abnormalities and muscle weakness. There is a bimodal age at onset with a peak in the second and fourth decades of life. Most affected individuals have a 'pure' form of the disorder with gait difficulties and hyperreflexia of the lower limbs. However, there is phenotypic heterogeneity, and some patients have a 'complex' form of the disorder with additional signs and symptoms, such as peripheral neuropathy, cerebellar ataxia, postural tremor, or urinary symptoms. The disorder is slowly progressive, and there is intrafamilial variability and incomplete penetrance (summary by Goizet et al., 2011 and Toft et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=377858
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ConceptID=C1853247
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary spastic paraplegia 31<span class="h1sub">(SPG31)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377858</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:">C1853247</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 31; SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal dominant spastic paraplegia type 31 (763068005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="REEP1 - ID: 65055 - NCBI Gene" href="/gene/65055" class="medgenPMinfo">REEP1</a> (2p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012453" target="_blank">MONDO:0012453</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610250" target="_blank">610250</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=101011">ORPHA101011</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">Spastic paraplegia-31 (SPG31) is an autosomal dominant neurologic disorder characterized primarily by spasticity of the lower limbs, resulting in gait abnormalities and muscle weakness. There is a bimodal age at onset with a peak in the second and fourth decades of life. Most affected individuals have a 'pure' form of the disorder with gait difficulties and hyperreflexia of the lower limbs. However, there is phenotypic heterogeneity, and some patients have a 'complex' form of the disorder with additional signs and symptoms, such as peripheral neuropathy, cerebellar ataxia, postural tremor, or urinary symptoms. The disorder is slowly progressive, and there is intrafamilial variability and incomplete penetrance (summary by Goizet et al., 2011 and Toft et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<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 MedlinePlus Genetics</strong><br />The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support.<br /><br />Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells that trigger muscle movement (motor neurons). Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported. <a target="_blank" href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31">https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31</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_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_68672"><div><strong>Ankle clonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68672</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.">C0238651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68672">Feature record</a> | <a href="/medgen?term=%22Ankle%20clonus%22%5BClinical%20Features%5D%20OR%2068672%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_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_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%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_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_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_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_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</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.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%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_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</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.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%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_68672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle clonus</a></span></li><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></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</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_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</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_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_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></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=C1853247[DISCUI]&test_type=Clinical" ref="ncbi_uid=377858">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377858" target="_blank" href="/omim/609139">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=377858" ref="ncbi_uid=377858">V</a></span></span><span class="TLline">Hereditary spastic paraplegia 31</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842222" ref="tree=MeSH" title="MedGen record for Pure or complex autosomal dominant spastic paraplegia">Pure or complex autosomal dominant spastic paraplegia</a></span><ul><li><span class="matched_ds">Hereditary spastic paraplegia 31</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=14722&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary spastic paraplegia 31</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/18321925">REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beetz C,
|
||
Schüle R,
|
||
Deconinck T,
|
||
Tran-Viet KN,
|
||
Zhu H,
|
||
Kremer BP,
|
||
Frints SG,
|
||
van Zelst-Stams WA,
|
||
Byrne P,
|
||
Otto S,
|
||
Nygren AO,
|
||
Baets J,
|
||
Smets K,
|
||
Ceulemans B,
|
||
Dan B,
|
||
Nagan N,
|
||
Kassubek J,
|
||
Klimpe S,
|
||
Klopstock T,
|
||
Stolze H,
|
||
Smeets HJ,
|
||
Schrander-Stumpel CT,
|
||
Hutchinson M,
|
||
van de Warrenburg BP,
|
||
Braastad C,
|
||
Deufel T,
|
||
Pericak-Vance M,
|
||
Schöls L,
|
||
de Jonghe P,
|
||
Züchner S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2008 Apr;131(Pt 4):1078-86.
|
||
Epub 2008 Mar 5
|
||
doi: 10.1093/brain/awn026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18321925" target="_blank">18321925</a><a href="/pmc/articles/PMC2841798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20spastic%20paraplegia%2031)%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/39932116">Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhi Y,
|
||
Shi Y,
|
||
Lu D,
|
||
Xu D</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2025 Feb;31(2):e70260.
|
||
doi: 10.1111/cns.70260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39932116" target="_blank">39932116</a><a href="/pmc/articles/PMC11811889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/36331550">Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morsy H,
|
||
Benkirane M,
|
||
Cali E,
|
||
Rocca C,
|
||
Zhelcheska K,
|
||
Cipriani V,
|
||
Galanaki E,
|
||
Maroofian R,
|
||
Efthymiou S,
|
||
Murphy D,
|
||
O'Driscoll M,
|
||
Suri M,
|
||
Banka S,
|
||
Clayton-Smith J,
|
||
Wright T,
|
||
Redman M,
|
||
Bassetti JA,
|
||
Nizon M,
|
||
Cogne B,
|
||
Jamra RA,
|
||
Bartolomaeus T,
|
||
Heruth M,
|
||
Krey I,
|
||
Gburek-Augustat J,
|
||
Wieczorek D,
|
||
Gattermann F,
|
||
Mcentagart M,
|
||
Goldenberg A,
|
||
Guyant-Marechal L,
|
||
Garcia-Moreno H,
|
||
Giunti P,
|
||
Chabrol B,
|
||
Bacrot S,
|
||
Buissonnière R,
|
||
Magry V,
|
||
Gowda VK,
|
||
Srinivasan VM,
|
||
Melegh B,
|
||
Szabó A,
|
||
Sümegi K,
|
||
Cossée M,
|
||
Ziff M,
|
||
Butterfield R,
|
||
Hunt D,
|
||
Bird-Lieberman G,
|
||
Hanna M,
|
||
Koenig M,
|
||
Stankewich M,
|
||
Vandrovcova J,
|
||
Houlden H;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Jan;25(1):76-89.
|
||
Epub 2022 Nov 4
|
||
doi: 10.1016/j.gim.2022.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36331550" target="_blank">36331550</a><a href="/pmc/articles/PMC10620943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36122674">AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salayev K,
|
||
Rocca C,
|
||
Kaiyrzhanov R,
|
||
Guliyeva U,
|
||
Guliyeva S,
|
||
Mursalova A,
|
||
Rahman F,
|
||
Anwar N,
|
||
Zafar F,
|
||
Jan F,
|
||
Rana N,
|
||
Maqbool S;
|
||
SYNAPS Study Group;
|
||
QUEEN SQUARE Genomics,
|
||
Efthymiou S,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Nov;65(11):104620.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1016/j.ejmg.2022.104620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36122674" target="_blank">36122674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26714052">Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schubert SF,
|
||
Hoffjan S,
|
||
Dekomien G</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Probes</span>
|
||
2016 Feb;30(1):53-5.
|
||
Epub 2015 Dec 20
|
||
doi: 10.1016/j.mcp.2015.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26714052" target="_blank">26714052</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2031%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 (53)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36516086">Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellerin D,
|
||
Danzi MC,
|
||
Wilke C,
|
||
Renaud M,
|
||
Fazal S,
|
||
Dicaire MJ,
|
||
Scriba CK,
|
||
Ashton C,
|
||
Yanick C,
|
||
Beijer D,
|
||
Rebelo A,
|
||
Rocca C,
|
||
Jaunmuktane Z,
|
||
Sonnen JA,
|
||
Larivière R,
|
||
Genís D,
|
||
Molina Porcel L,
|
||
Choquet K,
|
||
Sakalla R,
|
||
Provost S,
|
||
Robertson R,
|
||
Allard-Chamard X,
|
||
Tétreault M,
|
||
Reiling SJ,
|
||
Nagy S,
|
||
Nishadham V,
|
||
Purushottam M,
|
||
Vengalil S,
|
||
Bardhan M,
|
||
Nalini A,
|
||
Chen Z,
|
||
Mathieu J,
|
||
Massie R,
|
||
Chalk CH,
|
||
Lafontaine AL,
|
||
Evoy F,
|
||
Rioux MF,
|
||
Ragoussis J,
|
||
Boycott KM,
|
||
Dubé MP,
|
||
Duquette A,
|
||
Houlden H,
|
||
Ravenscroft G,
|
||
Laing NG,
|
||
Lamont PJ,
|
||
Saporta MA,
|
||
Schüle R,
|
||
Schöls L,
|
||
La Piana R,
|
||
Synofzik M,
|
||
Zuchner S,
|
||
Brais B</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Jan 12;388(2):128-141.
|
||
Epub 2022 Dec 14
|
||
doi: 10.1056/NEJMoa2207406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36516086" target="_blank">36516086</a><a href="/pmc/articles/PMC10042577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/35303589">Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panwala TF,
|
||
Garcia-Santibanez R,
|
||
Vizcarra JA,
|
||
Garcia AG,
|
||
Verma S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 May;130:7-13.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1016/j.pediatrneurol.2022.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303589" target="_blank">35303589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29847346">Hereditary ataxias and paraparesias: clinical and genetic update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parodi L,
|
||
Coarelli G,
|
||
Stevanin G,
|
||
Brice A,
|
||
Durr A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2018 Aug;31(4):462-471.
|
||
doi: 10.1097/WCO.0000000000000585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29847346" target="_blank">29847346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25631098">Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koh K,
|
||
Kobayashi F,
|
||
Miwa M,
|
||
Shindo K,
|
||
Isozaki E,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Takiyama Y</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2015 Apr;60(4):217-20.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1038/jhg.2015.3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25631098" target="_blank">25631098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2031%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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38859620">Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim AA,
|
||
Ollenschläger M,
|
||
Klebe S,
|
||
Schüle R,
|
||
Jeschonneck N,
|
||
Kellner M,
|
||
Loris E,
|
||
Greinwalder T,
|
||
Eskofier BM,
|
||
Winkler J,
|
||
Gaßner H,
|
||
Regensburger M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Aug;31(8):e16367.
|
||
Epub 2024 Jun 10
|
||
doi: 10.1111/ene.16367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38859620" target="_blank">38859620</a><a href="/pmc/articles/PMC11236064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38651515">Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tu Y,
|
||
Liu Y,
|
||
Fan S,
|
||
Weng J,
|
||
Li M,
|
||
Zhang F,
|
||
Fu Y,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Aug;31(8):e16310.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1111/ene.16310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651515" target="_blank">38651515</a><a href="/pmc/articles/PMC11235729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29126212">Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schöls L,
|
||
Rattay TW,
|
||
Martus P,
|
||
Meisner C,
|
||
Baets J,
|
||
Fischer I,
|
||
Jägle C,
|
||
Fraidakis MJ,
|
||
Martinuzzi A,
|
||
Saute JA,
|
||
Scarlato M,
|
||
Antenora A,
|
||
Stendel C,
|
||
Höflinger P,
|
||
Lourenco CM,
|
||
Abreu L,
|
||
Smets K,
|
||
Paucar M,
|
||
Deconinck T,
|
||
Bis DM,
|
||
Wiethoff S,
|
||
Bauer P,
|
||
Arnoldi A,
|
||
Marques W,
|
||
Jardim LB,
|
||
Hauser S,
|
||
Criscuolo C,
|
||
Filla A,
|
||
Züchner S,
|
||
Bassi MT,
|
||
Klopstock T,
|
||
De Jonghe P,
|
||
Björkhem I,
|
||
Schüle R</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2017 Dec 1;140(12):3112-3127.
|
||
doi: 10.1093/brain/awx273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29126212" target="_blank">29126212</a><a href="/pmc/articles/PMC5841036" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15464646">Misdiagnoses in children with dopa-responsive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jan MM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2004 Oct;31(4):298-303.
|
||
doi: 10.1016/j.pediatrneurol.2004.03.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15464646" target="_blank">15464646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14667075">Ultrasound-guided botulinum toxin injection technique for the iliopsoas muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westhoff B,
|
||
Seller K,
|
||
Wild A,
|
||
Jaeger M,
|
||
Krauspe R</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2003 Dec;45(12):829-32.
|
||
doi: 10.1017/s0012162203001531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14667075" target="_blank">14667075</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2031%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38859620">Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim AA,
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Ollenschläger M,
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Klebe S,
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Greinwalder T,
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Eskofier BM,
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Winkler J,
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Regensburger M</span><br />
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Epub 2024 Jun 10
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<span class="bold">PMID: </span><a href="/pubmed/38859620" target="_blank">38859620</a><a href="/pmc/articles/PMC11236064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35348942">Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xing F,
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Du J</span><br />
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2022 Aug;43(8):4989-4996.
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<span class="bold">PMID: </span><a href="/pubmed/35348942" target="_blank">35348942</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32447552">SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Osmanovic A,
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Widjaja M,
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Förster A,
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Weder J,
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Wattjes MP,
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Lange I,
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Sarikidi A,
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Auber B,
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2020 Sep;267(9):2732-2743.
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<span class="bold">PMID: </span><a href="/pubmed/32447552" target="_blank">32447552</a><a href="/pmc/articles/PMC7419373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27679996">Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kumar KR,
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Wali GM,
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Kamate M,
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Wali G,
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Minoche AE,
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Puttick C,
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Pinese M,
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Gayevskiy V,
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Dinger ME,
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Roscioli T,
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Sue CM,
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Cowley MJ</span><br />
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<span class="medgenPMjournal">Neurogenetics</span>
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2016 Oct;17(4):265-270.
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<span class="bold">PMID: </span><a href="/pubmed/27679996" target="_blank">27679996</a><a href="/pmc/articles/PMC5061846" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Brandão E,
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Ruano L,
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Brandão AF,
|
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Lopes AM,
|
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Thieleke-Matos C,
|
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Miller-Fleming L,
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Cruz VT,
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Barbosa M,
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Silveira I,
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Stevanin G,
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Pinto-Basto J,
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Sequeiros J,
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Alonso I,
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Coutinho P</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2013 Apr;70(4):481-7.
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doi: 10.1001/jamaneurol.2013.1956.
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<span class="bold">PMID: </span><a href="/pubmed/23400676" target="_blank">23400676</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2031%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36122674">AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salayev K,
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Rocca C,
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Kaiyrzhanov R,
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Guliyeva U,
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Guliyeva S,
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Mursalova A,
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Rahman F,
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Anwar N,
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Zafar F,
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Jan F,
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Rana N,
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Maqbool S;
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SYNAPS Study Group;
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QUEEN SQUARE Genomics,
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Efthymiou S,
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Houlden H</span><br />
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Epub 2022 Sep 16
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doi: 10.1016/j.ejmg.2022.104620.
|
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<span class="bold">PMID: </span><a href="/pubmed/36122674" target="_blank">36122674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35313342">SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrone L,
|
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Marchi PM,
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Webster CP,
|
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Marroccella R,
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Coldicott I,
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Reynolds S,
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Alves-Cruzeiro J,
|
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Yang ZL,
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Higginbottom A,
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Khundadze M,
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Shaw PJ,
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Hübner CA,
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Livesey MR,
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Azzouz M</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2022 Aug 23;31(16):2693-2710.
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doi: 10.1093/hmg/ddac063.
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<span class="bold">PMID: </span><a href="/pubmed/35313342" target="_blank">35313342</a><a href="/pmc/articles/PMC9402239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28459997">Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minnerop M,
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Kurzwelly D,
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Wagner H,
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Soehn AS,
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Reichbauer J,
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Tao F,
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Rattay TW,
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Peitz M,
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Rehbach K,
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Giorgetti A,
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Pyle A,
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Thiele H,
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Altmüller J,
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Timmann D,
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Karaca I,
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Lennarz M,
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Baets J,
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Hengel H,
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Synofzik M,
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Atasu B,
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Feely S,
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Kennerson M,
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Stendel C,
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Lindig T,
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Gonzalez MA,
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Stirnberg R,
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Sturm M,
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Roeske S,
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Jung J,
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Bauer P,
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Lohmann E,
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Herms S,
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Heilmann-Heimbach S,
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Nicholson G,
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Mahanjah M,
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Sharkia R,
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Carloni P,
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Brüstle O,
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Klopstock T,
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Mathews KD,
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Shy ME,
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de Jonghe P,
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Chinnery PF,
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Horvath R,
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Kohlhase J,
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Schmitt I,
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Wolf M,
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Greschus S,
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Amunts K,
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Maier W,
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Schöls L,
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Nürnberg P,
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Zuchner S,
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Klockgether T,
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Ramirez A,
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Schüle R</span><br />
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<span class="medgenPMjournal">Brain</span>
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2017 Jun 1;140(6):1561-1578.
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doi: 10.1093/brain/awx095.
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<span class="bold">PMID: </span><a href="/pubmed/28459997" target="_blank">28459997</a><a href="/pmc/articles/PMC6402316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27679996">Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar KR,
|
||
Wali GM,
|
||
Kamate M,
|
||
Wali G,
|
||
Minoche AE,
|
||
Puttick C,
|
||
Pinese M,
|
||
Gayevskiy V,
|
||
Dinger ME,
|
||
Roscioli T,
|
||
Sue CM,
|
||
Cowley MJ</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2016 Oct;17(4):265-270.
|
||
Epub 2016 Sep 28
|
||
doi: 10.1007/s10048-016-0495-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27679996" target="_blank">27679996</a><a href="/pmc/articles/PMC5061846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22637577">Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eckert T,
|
||
Link S,
|
||
Le DT,
|
||
Sobczak JP,
|
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Gieseke A,
|
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Richter K,
|
||
Woehlke G</span><br />
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<span class="medgenPMjournal">J Biol Chem</span>
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||
2012 Jul 27;287(31):26278-90.
|
||
Epub 2012 May 27
|
||
doi: 10.1074/jbc.M111.291898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22637577" target="_blank">22637577</a><a href="/pmc/articles/PMC3406712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spastic%20paraplegia%2031%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 (35)</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/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%2031%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
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|
||
</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">
|
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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 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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853247%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853247%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853247%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853247%5bDISCUI%5d" target="_blank">See all (37)</a></total></li>
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</ul></div>
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</div>
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<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=610250" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=101011" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20spastic%20paraplegia%2031" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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>
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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%2031)%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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