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<!--
|
||
UID=870473
|
||
ConceptID=C4024919
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar tract disease in lower limbs</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870473</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.">C4024919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007232">HP:0007232</a></td></tr>
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</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>
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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">Spinocerebellar tract disease in lower limbs</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/892345" ref="tree=MeSH" title="MedGen record for Abnormal spinal cord morphology">Abnormal spinal cord morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871173" ref="tree=MeSH" title="MedGen record for Abnormality of the spinocerebellar tracts">Abnormality of the spinocerebellar tracts</a></span><ul><li><span class="TLline"><a href="/medgen/401075" ref="tree=MeSH" title="MedGen record for Spinocerebellar tract degeneration">Spinocerebellar tract degeneration</a></span><ul><li><span class="matched_ds">Spinocerebellar tract disease in lower limbs</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_112">
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||
<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_7467"><div><strong>Deficiency of alpha-mannosidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7467</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:">C0024748</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical phenotype of alpha-mannosidosis varies considerably, with a wide spectrum of clinical findings and broad variability in individual presentation. At least three clinical types have been suggested in untreated individuals: mild (clinically recognized after age ten years, with myopathy, slow progression, and absence of skeletal abnormalities); moderate (clinically recognized before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities); and severe (obvious progression leading to early death from primary central nervous system involvement or infection). Core features of untreated individuals generally include early childhood-onset non-progressive hearing loss, frequent infections due to immunodeficiency, rheumatologic symptoms (especially systemic lupus erythematosus), developmental delay / intellectual disability, low tone, ataxia, spastic paraplegia, psychiatric findings, bone disease (ranging from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis), gastrointestinal dysfunction (including diarrhea, swallowing issues / aspiration, and enlarged liver and spleen), poor growth, eye issues (including tapetoretinal degeneration and optic nerve atrophy), cardiac complications in adults, and pulmonary issues (including parenchymal lung disease). However, with the advent of enzyme replacement therapy, the natural history of this condition may change. Long-term velmanase alfa (VA) treatment outcomes are still being elucidated, but may include improvement in hearing, immunologic profile, and quality of life (improved clinical outcomes for muscle strength). Similarly, affected individuals who underwent hematopoietic stem cell transplantation (HSCT) experienced improvement in development (with preservation of previously learned skills), ability to participate in activities of daily living, stabilization or improvement in skeletal abnormalities, and improvement in hearing ability, although expressive speech and hearing deficiencies remained the most significant clinical problems after HSCT.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7467">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of alpha-mannosidase</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<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/22753388">Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Quintáns B,
|
||
Ros R,
|
||
Ampuero I,
|
||
Yáñez Z,
|
||
Pascual SI,
|
||
de Yébenes JG,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Sep;33(9):1315-23.
|
||
Epub 2012 Jul 16
|
||
doi: 10.1002/humu.22148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753388" target="_blank">22753388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2926427">The utility of testing tactile perception of direction of scratch as a sensitive clinical sign of posterior column dysfunction in spinal cord disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hankey GJ,
|
||
Edis RH</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1989 Mar;52(3):395-8.
|
||
doi: 10.1136/jnnp.52.3.395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2926427" target="_blank">2926427</a><a href="/pmc/articles/PMC1032418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spinocerebellar%20tract%20disease%20in%20lower%20limbs)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35578252">Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Zhao Z,
|
||
Shen H,
|
||
Bing Q,
|
||
Li N,
|
||
Guo X,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 May 16;22(1):180.
|
||
doi: 10.1186/s12883-022-02708-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35578252" target="_blank">35578252</a><a href="/pmc/articles/PMC9109329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30834979">Hereditary primary lateral sclerosis and progressive nonfluent aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gazulla J,
|
||
Ferrer I,
|
||
Izquierdo-Alvarez S,
|
||
Alvarez S,
|
||
Sánchez-Alcudia R,
|
||
Bestué-Cardiel M,
|
||
Seral M,
|
||
Benavente I,
|
||
Sierra-Martínez E,
|
||
Berciano J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2019 May;266(5):1079-1090.
|
||
Epub 2019 Mar 5
|
||
doi: 10.1007/s00415-019-09235-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30834979" target="_blank">30834979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28304238">Remote motor system metabolic profile and surgery outcome in cervical spondylotic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craciunas SC,
|
||
Gorgan MR,
|
||
Ianosi B,
|
||
Lee P,
|
||
Burris J,
|
||
Cirstea CM</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2017 Jun;26(6):668-678.
|
||
Epub 2017 Mar 17
|
||
doi: 10.3171/2016.10.SPINE16479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28304238" target="_blank">28304238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753388">Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Quintáns B,
|
||
Ros R,
|
||
Ampuero I,
|
||
Yáñez Z,
|
||
Pascual SI,
|
||
de Yébenes JG,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Sep;33(9):1315-23.
|
||
Epub 2012 Jul 16
|
||
doi: 10.1002/humu.22148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753388" target="_blank">22753388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20225032">Genetics and pathogenesis of inherited ataxias and spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espinós C,
|
||
Palau F</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2009;652:263-96.
|
||
doi: 10.1007/978-90-481-2813-6_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20225032" target="_blank">20225032</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20disease%20in%20lower%20limbs%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35578252">Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Zhao Z,
|
||
Shen H,
|
||
Bing Q,
|
||
Li N,
|
||
Guo X,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 May 16;22(1):180.
|
||
doi: 10.1186/s12883-022-02708-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35578252" target="_blank">35578252</a><a href="/pmc/articles/PMC9109329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30834979">Hereditary primary lateral sclerosis and progressive nonfluent aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gazulla J,
|
||
Ferrer I,
|
||
Izquierdo-Alvarez S,
|
||
Alvarez S,
|
||
Sánchez-Alcudia R,
|
||
Bestué-Cardiel M,
|
||
Seral M,
|
||
Benavente I,
|
||
Sierra-Martínez E,
|
||
Berciano J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2019 May;266(5):1079-1090.
|
||
Epub 2019 Mar 5
|
||
doi: 10.1007/s00415-019-09235-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30834979" target="_blank">30834979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24272953">A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musova Z,
|
||
Kaiserova M,
|
||
Kriegova E,
|
||
Fillerova R,
|
||
Vasovcak P,
|
||
Santava A,
|
||
Mensikova K,
|
||
Zumrova A,
|
||
Krepelova A,
|
||
Sedlacek Z,
|
||
Kanovsky P</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2014 Jun;13(3):331-7.
|
||
doi: 10.1007/s12311-013-0538-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24272953" target="_blank">24272953</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753388">Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Quintáns B,
|
||
Ros R,
|
||
Ampuero I,
|
||
Yáñez Z,
|
||
Pascual SI,
|
||
de Yébenes JG,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Sep;33(9):1315-23.
|
||
Epub 2012 Jul 16
|
||
doi: 10.1002/humu.22148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753388" target="_blank">22753388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14759635">Lower urinary tract dysfunction in Machado-Joseph disease: a study of 11 clinical-urodynamic observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakakibara R,
|
||
Uchiyama T,
|
||
Arai K,
|
||
Yamanishi T,
|
||
Hattori T</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2004 Mar 15;218(1-2):67-72.
|
||
doi: 10.1016/j.jns.2003.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14759635" target="_blank">14759635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20disease%20in%20lower%20limbs%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35578252">Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Zhao Z,
|
||
Shen H,
|
||
Bing Q,
|
||
Li N,
|
||
Guo X,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 May 16;22(1):180.
|
||
doi: 10.1186/s12883-022-02708-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35578252" target="_blank">35578252</a><a href="/pmc/articles/PMC9109329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33746006">Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Song Y,
|
||
Wang X,
|
||
Li X,
|
||
Xu F,
|
||
Si L,
|
||
Dong Y,
|
||
Yao T,
|
||
Zhu J,
|
||
Lai H,
|
||
Li W,
|
||
Lin F,
|
||
Huang H,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2021 May 1;752:135831.
|
||
Epub 2021 Mar 18
|
||
doi: 10.1016/j.neulet.2021.135831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33746006" target="_blank">33746006</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28304238">Remote motor system metabolic profile and surgery outcome in cervical spondylotic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craciunas SC,
|
||
Gorgan MR,
|
||
Ianosi B,
|
||
Lee P,
|
||
Burris J,
|
||
Cirstea CM</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2017 Jun;26(6):668-678.
|
||
Epub 2017 Mar 17
|
||
doi: 10.3171/2016.10.SPINE16479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28304238" target="_blank">28304238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27417041">Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velázquez-Pérez L,
|
||
Rodríguez-Labrada R,
|
||
Torres-Vega R,
|
||
Medrano Montero J,
|
||
Vázquez-Mojena Y,
|
||
Auburger G,
|
||
Ziemann U</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2016 Aug;127(8):2713-2719.
|
||
Epub 2016 May 20
|
||
doi: 10.1016/j.clinph.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27417041" target="_blank">27417041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10727914">Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Restivo DA,
|
||
Giuffrida S,
|
||
Rapisarda G,
|
||
Antonuzzo A,
|
||
Saponara R,
|
||
Reggio A,
|
||
Trovato Salinaro A,
|
||
Raffaele R,
|
||
Domina E,
|
||
Trovato A,
|
||
Condorelli DF,
|
||
Pennisi G</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2000 Apr;111(4):630-5.
|
||
doi: 10.1016/s1388-2457(99)00305-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10727914" target="_blank">10727914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20disease%20in%20lower%20limbs%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37898963">Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Divya KP,
|
||
Cherian A,
|
||
Dhing HK,
|
||
Kumar S,
|
||
Thomas B,
|
||
Faruq M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2024 Apr;124(2):475-484.
|
||
Epub 2023 Oct 29
|
||
doi: 10.1007/s13760-023-02400-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37898963" target="_blank">37898963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30103963">Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimura M,
|
||
Yuan JH,
|
||
Higashi K,
|
||
Yoshimura A,
|
||
Arata H,
|
||
Okubo R,
|
||
Nakabeppu Y,
|
||
Yoshiura T,
|
||
Takashima H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2018 Aug 15;391:15-21.
|
||
Epub 2018 May 17
|
||
doi: 10.1016/j.jns.2018.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30103963" target="_blank">30103963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28304238">Remote motor system metabolic profile and surgery outcome in cervical spondylotic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craciunas SC,
|
||
Gorgan MR,
|
||
Ianosi B,
|
||
Lee P,
|
||
Burris J,
|
||
Cirstea CM</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2017 Jun;26(6):668-678.
|
||
Epub 2017 Mar 17
|
||
doi: 10.3171/2016.10.SPINE16479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28304238" target="_blank">28304238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27417041">Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velázquez-Pérez L,
|
||
Rodríguez-Labrada R,
|
||
Torres-Vega R,
|
||
Medrano Montero J,
|
||
Vázquez-Mojena Y,
|
||
Auburger G,
|
||
Ziemann U</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2016 Aug;127(8):2713-2719.
|
||
Epub 2016 May 20
|
||
doi: 10.1016/j.clinph.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27417041" target="_blank">27417041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14759635">Lower urinary tract dysfunction in Machado-Joseph disease: a study of 11 clinical-urodynamic observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakakibara R,
|
||
Uchiyama T,
|
||
Arai K,
|
||
Yamanishi T,
|
||
Hattori T</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2004 Mar 15;218(1-2):67-72.
|
||
doi: 10.1016/j.jns.2003.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14759635" target="_blank">14759635</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20tract%20disease%20in%20lower%20limbs%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 (7)</a></div></div>
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