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<!--
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||
UID=344505
|
||
ConceptID=C1855483
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive spastic paraplegia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344505</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.">C1855483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spastic paraplegia, progressive</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007020">HP:0007020</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Progressive spastic paraplegia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/235384" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Nervous System Disorder">Non-Neoplastic Nervous System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/75501" ref="tree=MeSH" title="MedGen record for Nerve palsy">Nerve palsy</a></span><ul><li><span class="TLline"><a href="/medgen/45323" ref="tree=MeSH" title="MedGen record for Paraplegia">Paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/20882" ref="tree=MeSH" title="MedGen record for Spastic paraplegia">Spastic paraplegia</a></span><ul><li><span class="matched_ds">Progressive spastic paraplegia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78538"><div><strong>Miller Dieker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78538</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.">C0265219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78538">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</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.">C1845243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383142"><div><strong>Hereditary spastic paraplegia 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383142</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.">C2677586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383142">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miller Dieker syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577205">Current Study of the Detection and Treatment Targets of Spinal Tuberculosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
|
||
Gao W,
|
||
Hao D</span><br />
|
||
<span class="medgenPMjournal">Curr Drug Targets</span>
|
||
2020;21(4):320-327.
|
||
doi: 10.2174/1389450120666191002151637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577205" target="_blank">31577205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27882623">Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osorio MJ,
|
||
Rowitch DH,
|
||
Tesar P,
|
||
Wernig M,
|
||
Windrem MS,
|
||
Goldman SA</span><br />
|
||
<span class="medgenPMjournal">Stem Cells</span>
|
||
2017 Feb;35(2):311-315.
|
||
Epub 2016 Nov 23
|
||
doi: 10.1002/stem.2530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27882623" target="_blank">27882623</a><a href="/pmc/articles/PMC5314962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24676440">Clinical features and management of hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faber I,
|
||
Servelhere KR,
|
||
Martinez AR,
|
||
D'Abreu A,
|
||
Lopes-Cendes I,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2014 Mar;72(3):219-26.
|
||
doi: 10.1590/0004-282x20130248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24676440" target="_blank">24676440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(progressive%20spastic%20paraplegia)%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 (64)</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/38640304">A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wang X,
|
||
Huang D,
|
||
Qi Y,
|
||
Xu L,
|
||
Shao Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Apr 19;103(16):e37874.
|
||
doi: 10.1097/MD.0000000000037874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38640304" target="_blank">38640304</a><a href="/pmc/articles/PMC11029984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36302663">Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi S,
|
||
Concolino P,
|
||
Di Natale D,
|
||
Pasquetti D,
|
||
Di Lella GM,
|
||
Chiurazzi P,
|
||
Silvestri G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 24;100(4):199-205.
|
||
Epub 2022 Oct 27
|
||
doi: 10.1212/WNL.0000000000201516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36302663" target="_blank">36302663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34504025">Clinical Reasoning: A Middle-aged Man With Progressive Gait Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin J,
|
||
Hou Y,
|
||
Shang H</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Dec 14;97(24):e2423-e2428.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1212/WNL.0000000000012756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34504025" target="_blank">34504025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622380">Inborn errors of brain myelin formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1581-92.
|
||
doi: 10.1016/B978-0-444-59565-2.00027-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622380" target="_blank">23622380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19344448">Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Macedo-Souza LI,
|
||
Kok F,
|
||
Santos S,
|
||
Licinio L,
|
||
Lezirovitz K,
|
||
Cavaçana N,
|
||
Bueno C,
|
||
Amorim S,
|
||
Pessoa A,
|
||
Graciani Z,
|
||
Ferreira A,
|
||
Prazeres A,
|
||
de Melo AN,
|
||
Otto PA,
|
||
Zatz M</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2009 May;73(Pt 3):382-7.
|
||
Epub 2009 Mar 4
|
||
doi: 10.1111/j.1469-1809.2009.00507.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19344448" target="_blank">19344448</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spastic%20paraplegia%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38640304">A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wang X,
|
||
Huang D,
|
||
Qi Y,
|
||
Xu L,
|
||
Shao Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Apr 19;103(16):e37874.
|
||
doi: 10.1097/MD.0000000000037874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38640304" target="_blank">38640304</a><a href="/pmc/articles/PMC11029984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28488683">Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yogev Y,
|
||
Perez Y,
|
||
Noyman I,
|
||
Madegem AA,
|
||
Flusser H,
|
||
Shorer Z,
|
||
Cohen E,
|
||
Kachko L,
|
||
Michaelovsky A,
|
||
Birk R,
|
||
Koifman A,
|
||
Drabkin M,
|
||
Wormser O,
|
||
Halperin D,
|
||
Kadir R,
|
||
Birk OS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2017 Aug;25(8):966-972.
|
||
Epub 2017 May 10
|
||
doi: 10.1038/ejhg.2017.85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28488683" target="_blank">28488683</a><a href="/pmc/articles/PMC5567152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622380">Inborn errors of brain myelin formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1581-92.
|
||
doi: 10.1016/B978-0-444-59565-2.00027-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622380" target="_blank">23622380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20339643">Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graciani Z,
|
||
Santos S,
|
||
Macedo-Souza LI,
|
||
Monteiro CB,
|
||
Veras MI,
|
||
Amorim S,
|
||
Zatz M,
|
||
Kok F</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2010 Feb;68(1):3-6.
|
||
doi: 10.1590/s0004-282x2010000100002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20339643" target="_blank">20339643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17884680">Primary-progressive multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DH,
|
||
Leary SM</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2007 Oct;6(10):903-12.
|
||
doi: 10.1016/S1474-4422(07)70243-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17884680" target="_blank">17884680</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spastic%20paraplegia%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 (25)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36951961">Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen X,
|
||
Dong T,
|
||
Hu Y,
|
||
De Pace R,
|
||
Mattera R,
|
||
Eberhardt K,
|
||
Ziegler M,
|
||
Pirovolakis T,
|
||
Sahin M,
|
||
Bonifacino JS,
|
||
Ebrahimi-Fakhari D,
|
||
Gray SJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2023 May 15;133(10)
|
||
doi: 10.1172/JCI164575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36951961" target="_blank">36951961</a><a href="/pmc/articles/PMC10178841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33257305">A Case of Miyazaki Syndrome Caused by Arachnoid Cyst-Peritoneal Shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ichikawa T,
|
||
Yasuda R,
|
||
Maeda M,
|
||
Matsuyama H,
|
||
Matsuura K,
|
||
Asada R,
|
||
Shiba M,
|
||
Suzuki H</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2021 Feb;146:85-89.
|
||
Epub 2020 Oct 23
|
||
doi: 10.1016/j.wneu.2020.10.094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33257305" target="_blank">33257305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15465400">Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang SY,
|
||
Lee MH,
|
||
Lee SK,
|
||
Sohn YH</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2004 Oct;10(7):425-7.
|
||
doi: 10.1016/j.parkreldis.2004.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15465400" target="_blank">15465400</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spastic%20paraplegia%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38640304">A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wang X,
|
||
Huang D,
|
||
Qi Y,
|
||
Xu L,
|
||
Shao Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Apr 19;103(16):e37874.
|
||
doi: 10.1097/MD.0000000000037874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38640304" target="_blank">38640304</a><a href="/pmc/articles/PMC11029984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29547997">Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sferra A,
|
||
Fattori F,
|
||
Rizza T,
|
||
Flex E,
|
||
Bellacchio E,
|
||
Bruselles A,
|
||
Petrini S,
|
||
Cecchetti S,
|
||
Teson M,
|
||
Restaldi F,
|
||
Ciolfi A,
|
||
Santorelli FM,
|
||
Zanni G,
|
||
Barresi S,
|
||
Castiglioni C,
|
||
Tartaglia M,
|
||
Bertini E</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2018 Jun 1;27(11):1892-1904.
|
||
doi: 10.1093/hmg/ddy096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29547997" target="_blank">29547997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27256065">A case report of SPG11 mutations in a Chinese ARHSP-TCC family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang L,
|
||
McFarland KN,
|
||
Jiao J,
|
||
Jiao Y</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2016 Jun 3;16:87.
|
||
doi: 10.1186/s12883-016-0604-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27256065" target="_blank">27256065</a><a href="/pmc/articles/PMC4891852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16138254">Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brockmann K,
|
||
Simpson MA,
|
||
Faber A,
|
||
Bönnemann C,
|
||
Crosby AH,
|
||
Gärtner J</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2005 Aug;36(4):274-8.
|
||
doi: 10.1055/s-2005-872809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16138254" target="_blank">16138254</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spastic%20paraplegia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36951961">Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen X,
|
||
Dong T,
|
||
Hu Y,
|
||
De Pace R,
|
||
Mattera R,
|
||
Eberhardt K,
|
||
Ziegler M,
|
||
Pirovolakis T,
|
||
Sahin M,
|
||
Bonifacino JS,
|
||
Ebrahimi-Fakhari D,
|
||
Gray SJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2023 May 15;133(10)
|
||
doi: 10.1172/JCI164575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36951961" target="_blank">36951961</a><a href="/pmc/articles/PMC10178841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29547997">Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sferra A,
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Fattori F,
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Rizza T,
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Teson M,
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Restaldi F,
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Ciolfi A,
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Santorelli FM,
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Zanni G,
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|
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doi: 10.1093/hmg/ddy096.
|
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<span class="bold">PMID: </span><a href="/pubmed/29547997" target="_blank">29547997</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/28488683">Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yogev Y,
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Perez Y,
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Noyman I,
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2017 Aug;25(8):966-972.
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Epub 2017 May 10
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doi: 10.1038/ejhg.2017.85.
|
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<span class="bold">PMID: </span><a href="/pubmed/28488683" target="_blank">28488683</a><a href="/pmc/articles/PMC5567152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622380">Inborn errors of brain myelin formation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boespflug-Tanguy O</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/23622380" target="_blank">23622380</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/19344448">Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Macedo-Souza LI,
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Kok F,
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Santos S,
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Licinio L,
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Lezirovitz K,
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Cavaçana N,
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Bueno C,
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Amorim S,
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Pessoa A,
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Graciani Z,
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Ferreira A,
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Prazeres A,
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de Melo AN,
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Otto PA,
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<span class="medgenPMjournal">Ann Hum Genet</span>
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2009 May;73(Pt 3):382-7.
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||
Epub 2009 Mar 4
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||
doi: 10.1111/j.1469-1809.2009.00507.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19344448" target="_blank">19344448</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spastic%20paraplegia%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 (13)</a></div></div>
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