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<!--
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UID=322908
|
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ConceptID=C1836392
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dysmetric saccades</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322908</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.">C1836392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dysmetric eye movements; Dysmetric eye saccades; Uncoordinated eye movement</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000641">HP:0000641</a></td></tr>
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<div class="portlet_content ln">The controller signal for saccadic eye movements has two components [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836392[DISCUI]&test_type=Clinical" ref="ncbi_uid=322908">C</a></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">Dysmetric saccades</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/99227" ref="tree=MeSH" title="MedGen record for Abnormality of eye movement">Abnormality of eye movement</a></span><ul><li><span class="TLline"><a href="/medgen/66709" ref="tree=MeSH" title="MedGen record for Abnormal saccadic eye movements">Abnormal saccadic eye movements</a></span><ul><li><span class="matched_ds">Dysmetric saccades</span><ul><li><span class="TLline"><a href="/medgen/1671000" ref="tree=MeSH" title="MedGen record for Dysmetric horizontal saccades">Dysmetric horizontal saccades</a></span></li><li><span class="TLline"><a href="/medgen/1670956" ref="tree=MeSH" title="MedGen record for Dysmetric vertical saccades">Dysmetric vertical saccades</a></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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_9841"><div><strong>Azorean disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9841</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.">C0024408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9841">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140747"><div><strong>Hereditary motor and sensory neuropathy with optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140747</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.">C0393807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140747">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155703"><div><strong>Spinocerebellar ataxia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155703</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:">C0752120</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of upgaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155704"><div><strong>Spinocerebellar ataxia type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155704</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.">C0752121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373077"><div><strong>Spinocerebellar ataxia type 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373077</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.">C1836395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332457"><div><strong>Spinocerebellar ataxia type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332457</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.">C1837454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332457">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338301"><div><strong>Spinocerebellar ataxia type 15/16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338301</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.">C1847725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-15 (SCA15) is an autosomal dominant, adult-onset, slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339941"><div><strong>Spinocerebellar ataxia type 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339941</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.">C1853249</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339942"><div><strong>Spinocerebellar ataxia type 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339942</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.">C1853250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-23 (SCA23) is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766862"><div><strong>Peroxisome biogenesis disorder 6B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766862</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.">C3553948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682111"><div><strong>Spastic paraplegia 80, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682111</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.">C5193084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682111">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Azorean disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary motor and sensory neuropathy with optic atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 6B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 80, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 15/16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 8</a></div></span></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/34993890">Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SU,
|
||
Kim JS,
|
||
Yoo D,
|
||
Kim A,
|
||
Kim HJ,
|
||
Choi JY,
|
||
Park JY,
|
||
Jeong SH,
|
||
Kim JM,
|
||
Park KW</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Feb;22(1):1-13.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1007/s12311-021-01356-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34993890" target="_blank">34993890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33215370">Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
|
||
Novo A,
|
||
Duque C,
|
||
Cunha I,
|
||
Ribeiro J,
|
||
Castelhano J,
|
||
Januário C</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Jun;20(3):402-409.
|
||
Epub 2020 Nov 19
|
||
doi: 10.1007/s12311-020-01217-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33215370" target="_blank">33215370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26947625">The electrophysiology of spinocerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang L,
|
||
Chen T,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
2016 Feb;46(1):27-34.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.neucli.2015.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26947625" target="_blank">26947625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25122203">The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méneret A,
|
||
Ahmar-Beaugendre Y,
|
||
Rieunier G,
|
||
Mahlaoui N,
|
||
Gaymard B,
|
||
Apartis E,
|
||
Tranchant C,
|
||
Rivaud-Péchoux S,
|
||
Degos B,
|
||
Benyahia B,
|
||
Suarez F,
|
||
Maisonobe T,
|
||
Koenig M,
|
||
Durr A,
|
||
Stern MH,
|
||
Dubois d'Enghien C,
|
||
Fischer A,
|
||
Vidailhet M,
|
||
Stoppa-Lyonnet D,
|
||
Grabli D,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2014 Sep 16;83(12):1087-95.
|
||
Epub 2014 Aug 13
|
||
doi: 10.1212/WNL.0000000000000794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25122203" target="_blank">25122203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23609488">Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JS,
|
||
Kim JS,
|
||
Youn J,
|
||
Seo DW,
|
||
Jeong Y,
|
||
Kang JH,
|
||
Park JH,
|
||
Cho JW</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Aug;28(9):1271-7.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1002/mds.25464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23609488" target="_blank">23609488</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysmetric%20saccades%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34993890">Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SU,
|
||
Kim JS,
|
||
Yoo D,
|
||
Kim A,
|
||
Kim HJ,
|
||
Choi JY,
|
||
Park JY,
|
||
Jeong SH,
|
||
Kim JM,
|
||
Park KW</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Feb;22(1):1-13.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1007/s12311-021-01356-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34993890" target="_blank">34993890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33870938">Neuro-Ophthalmic Phenotype of OPA3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huna-Baron R,
|
||
Yahalom G,
|
||
Anikster Y,
|
||
Ben Zeev B,
|
||
Hoffmann C,
|
||
Hassin-Baer S</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Mar 1;42(1):e147-e152.
|
||
Epub 2021 Apr 14
|
||
doi: 10.1097/WNO.0000000000001249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33870938" target="_blank">33870938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34784643">Central Ocular Motor Disorders: Clinical and Topographic Anatomical Diagnosis, Syndromes and Underlying Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp ML,
|
||
Straumann D,
|
||
Helmchen C</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2021 Nov;238(11):1197-1211.
|
||
Epub 2021 Nov 16
|
||
doi: 10.1055/a-1654-0632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34784643" target="_blank">34784643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26947625">The electrophysiology of spinocerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang L,
|
||
Chen T,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
2016 Feb;46(1):27-34.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.neucli.2015.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26947625" target="_blank">26947625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25122203">The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méneret A,
|
||
Ahmar-Beaugendre Y,
|
||
Rieunier G,
|
||
Mahlaoui N,
|
||
Gaymard B,
|
||
Apartis E,
|
||
Tranchant C,
|
||
Rivaud-Péchoux S,
|
||
Degos B,
|
||
Benyahia B,
|
||
Suarez F,
|
||
Maisonobe T,
|
||
Koenig M,
|
||
Durr A,
|
||
Stern MH,
|
||
Dubois d'Enghien C,
|
||
Fischer A,
|
||
Vidailhet M,
|
||
Stoppa-Lyonnet D,
|
||
Grabli D,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2014 Sep 16;83(12):1087-95.
|
||
Epub 2014 Aug 13
|
||
doi: 10.1212/WNL.0000000000000794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25122203" target="_blank">25122203</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysmetric%20saccades%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17372726">Differences in cortical activation during smooth pursuit and saccadic eye movements following cerebellar lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumann O,
|
||
Ziemus B,
|
||
Luerding R,
|
||
Schuierer G,
|
||
Bogdahn U,
|
||
Greenlee MW</span><br />
|
||
<span class="medgenPMjournal">Exp Brain Res</span>
|
||
2007 Aug;181(2):237-47.
|
||
Epub 2007 Mar 20
|
||
doi: 10.1007/s00221-007-0922-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17372726" target="_blank">17372726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6133512">Disturbed smooth pursuit and saccadic eye movements in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmid-Burgk W,
|
||
Becker W,
|
||
Diekmann V,
|
||
Jürgens R,
|
||
Kornhuber HH</span><br />
|
||
<span class="medgenPMjournal">Arch Psychiatr Nervenkr (1970)</span>
|
||
1982;232(5):381-9.
|
||
doi: 10.1007/BF00345594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6133512" target="_blank">6133512</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysmetric%20saccades%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33870938">Neuro-Ophthalmic Phenotype of OPA3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huna-Baron R,
|
||
Yahalom G,
|
||
Anikster Y,
|
||
Ben Zeev B,
|
||
Hoffmann C,
|
||
Hassin-Baer S</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Mar 1;42(1):e147-e152.
|
||
Epub 2021 Apr 14
|
||
doi: 10.1097/WNO.0000000000001249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33870938" target="_blank">33870938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34784643">Central Ocular Motor Disorders: Clinical and Topographic Anatomical Diagnosis, Syndromes and Underlying Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp ML,
|
||
Straumann D,
|
||
Helmchen C</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2021 Nov;238(11):1197-1211.
|
||
Epub 2021 Nov 16
|
||
doi: 10.1055/a-1654-0632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34784643" target="_blank">34784643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23609488">Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JS,
|
||
Kim JS,
|
||
Youn J,
|
||
Seo DW,
|
||
Jeong Y,
|
||
Kang JH,
|
||
Park JH,
|
||
Cho JW</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Aug;28(9):1271-7.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1002/mds.25464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23609488" target="_blank">23609488</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysmetric%20saccades%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39066865">Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sohns E,
|
||
Szmulewicz DJ,
|
||
Tarnutzer AA</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Dec;23(6):2269-2284.
|
||
Epub 2024 Jul 27
|
||
doi: 10.1007/s12311-024-01716-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39066865" target="_blank">39066865</a><a href="/pmc/articles/PMC11585506" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34993890">Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SU,
|
||
Kim JS,
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||
Yoo D,
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||
Kim A,
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||
Kim HJ,
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||
Choi JY,
|
||
Park JY,
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||
Jeong SH,
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||
Kim JM,
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||
Park KW</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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2023 Feb;22(1):1-13.
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||
Epub 2022 Jan 7
|
||
doi: 10.1007/s12311-021-01356-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34993890" target="_blank">34993890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33215370">Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
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Novo A,
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Duque C,
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Cunha I,
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Ribeiro J,
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Castelhano J,
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Januário C</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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||
2021 Jun;20(3):402-409.
|
||
Epub 2020 Nov 19
|
||
doi: 10.1007/s12311-020-01217-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33215370" target="_blank">33215370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23609488">Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JS,
|
||
Kim JS,
|
||
Youn J,
|
||
Seo DW,
|
||
Jeong Y,
|
||
Kang JH,
|
||
Park JH,
|
||
Cho JW</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Aug;28(9):1271-7.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1002/mds.25464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23609488" target="_blank">23609488</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/15872017">Disturbed overt but normal covert shifts of attention in adult cerebellar patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golla H,
|
||
Thier P,
|
||
Haarmeier T</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2005 Jul;128(Pt 7):1525-35.
|
||
Epub 2005 May 4
|
||
doi: 10.1093/brain/awh523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15872017" target="_blank">15872017</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysmetric%20saccades%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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<div class="nl"><a target="_blank" href="/pubmed/39066865">Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sohns E,
|
||
Szmulewicz DJ,
|
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Tarnutzer AA</span><br />
|
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<span class="medgenPMjournal">Cerebellum</span>
|
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2024 Dec;23(6):2269-2284.
|
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Epub 2024 Jul 27
|
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doi: 10.1007/s12311-024-01716-8.
|
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