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<!--
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UID=334385
|
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ConceptID=C1843369
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vertical supranuclear gaze palsy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334385</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.">C1843369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Vertical gaze palsy</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:0000511">HP:0000511</a></td></tr>
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<div class="portlet_content ln">A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [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 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">Vertical supranuclear gaze palsy</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/337198" ref="tree=MeSH" title="MedGen record for Abnormal conjugate eye movement">Abnormal conjugate eye movement</a></span><ul><li><span class="TLline"><a href="/medgen/314030" ref="tree=MeSH" title="MedGen record for Supranuclear gaze palsy">Supranuclear gaze palsy</a></span><ul><li><span class="matched_ds">Vertical supranuclear gaze palsy</span><ul><li><span class="TLline"><a href="/medgen/1369087" ref="tree=MeSH" title="MedGen record for Downgaze palsy">Downgaze palsy</a></span></li><li><span class="TLline"><a href="/medgen/1369853" ref="tree=MeSH" title="MedGen record for Upgaze palsy">Upgaze palsy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></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_61440"><div><strong>Pelizaeus-Merzbacher disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61440</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.">C0205711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335942"><div><strong>Niemann-Pick disease, type C2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335942</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.">C1843366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339552"><div><strong>Hereditary spastic paraplegia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339552</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.">C1846564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357007"><div><strong>Perry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357007</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:">C1868594</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414488"><div><strong>Autosomal recessive Parkinson disease 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414488</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.">C2751842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414488">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_465922"><div><strong>Niemann-Pick disease, type C1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465922</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.">C3179455</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/465922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483339"><div><strong>Spinocerebellar ataxia type 36</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483339</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.">C3472711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 36 (SCA36) is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. Other common features are muscle atrophy and denervation, especially of the tongue, as well as pyramidal signs, thus overlapping with motor neuron disorders. Mild frontal-subcortical affective and cognitive decline may be present as the disease progresses. Brain MRI shows atrophy of the cerebellar vermis in initial stages, later evolving to a pattern of olivopontocerebellar atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483339">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934591"><div><strong>Congenital bile acid synthesis defect 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934591</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.">C4310624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934591">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934642"><div><strong>Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934642</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.">C4310675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934642">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934660"><div><strong>Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934660</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.">C4310693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639554"><div><strong>Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639554</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.">C4706676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648481"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648481</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.">C4748826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex I deficiency nuclear type 27 (MC1DN27) is characterized by very low levels of complex I activity with normal levels of activity of complexes II, III, and IV. Patients present with impaired intellectual development or developmental delay, hypotonia or spasticity, and ophthalmologic abnormalities (Haack et al., 2012). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648481">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794264"><div><strong>Dystonia 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794264</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.">C5562054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794264">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Parkinson disease 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 7</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelizaeus-Merzbacher disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perry syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 36</a></div></span></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/33892845">Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry-Kravis E</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100879.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.spen.2021.100879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892845" target="_blank">33892845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26900156">The Differential Diagnosis and Treatment of Atypical Parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levin J,
|
||
Kurz A,
|
||
Arzberger T,
|
||
Giese A,
|
||
Höglinger GU</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2016 Feb 5;113(5):61-9.
|
||
doi: 10.3238/arztebl.2016.0061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26900156" target="_blank">26900156</a><a href="/pmc/articles/PMC4782269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22572546">Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC,
|
||
Hendriksz CJ,
|
||
Walterfang M,
|
||
Sedel F,
|
||
Vanier MT,
|
||
Wijburg F;
|
||
NP-C Guidelines Working Group</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Jul;106(3):330-44.
|
||
Epub 2012 May 8
|
||
doi: 10.1016/j.ymgme.2012.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22572546" target="_blank">22572546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vertical%20supranuclear%20gaze%20palsy%22%5Btiab%3A~0%5D)%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 (9)</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/33104043">Genetics of Progressive Supranuclear Palsy: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wen Y,
|
||
Zhou Y,
|
||
Jiao B,
|
||
Shen L</span><br />
|
||
<span class="medgenPMjournal">J Parkinsons Dis</span>
|
||
2021;11(1):93-105.
|
||
doi: 10.3233/JPD-202302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33104043" target="_blank">33104043</a><a href="/pmc/articles/PMC7990399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32709131">Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seker Yilmaz B,
|
||
Baruteau J,
|
||
Rahim AA,
|
||
Gissen P</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Jul 17;21(14)
|
||
doi: 10.3390/ijms21145059.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/29902389">The diagnosis of progressive supranuclear palsy: current opinions and challenges.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22810120">Vertical supranuclear gaze palsy in Niemann-Pick type C disease.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23622394" target="_blank">23622394</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%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 (80)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39697013">Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yoldas Celik M,
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<div class="nl"><a target="_blank" href="/pubmed/35164809">Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bolton SC,
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Soran V,
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Marfa MP,
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<div class="nl"><a target="_blank" href="/pubmed/33148560">Bilateral, vertical supranuclear gaze palsy following unilateral midbrain infarct.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
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<div class="nl"><a target="_blank" href="/pubmed/21792607">Mitochondrial dysfunction as a therapeutic target in progressive supranuclear palsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ries V,
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<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29902389">The diagnosis of progressive supranuclear palsy: current opinions and challenges.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ali F,
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Josephs K</span><br />
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<span class="medgenPMjournal">Expert Rev Neurother</span>
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2018 Jul;18(7):603-616.
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Epub 2018 Jun 28
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doi: 10.1080/14737175.2018.1489241.
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<span class="bold">PMID: </span><a href="/pubmed/29902389" target="_blank">29902389</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26998855">Niemann-Pick type C: focus on the adolescent/adult onset form.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Lazzaro V,
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<span class="bold">PMID: </span><a href="/pubmed/26998855" target="_blank">26998855</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26705121">Progressive supranuclear palsy: progression and survival.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arena JE,
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Weigand SD,
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Whitwell JL,
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Hassan A,
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Eggers SD,
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Höglinger GU,
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Litvan I,
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<div class="nl"><a target="_blank" href="/pubmed/22572546">Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.</a></div>
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Hendriksz CJ,
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Walterfang M,
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Sedel F,
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Vanier MT,
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Wijburg F;
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Epub 2012 May 8
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<span class="bold">PMID: </span><a href="/pubmed/22572546" target="_blank">22572546</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2010 Jun 3;5:16.
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doi: 10.1186/1750-1172-5-16.
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<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34086834">Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hopf S,
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Hennermann JB,
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Schuster AK,
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Pfeiffer N,
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<span class="bold">PMID: </span><a href="/pubmed/34086834" target="_blank">34086834</a><a href="/pmc/articles/PMC8177533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29902389">The diagnosis of progressive supranuclear palsy: current opinions and challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali F,
|
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Josephs K</span><br />
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<span class="medgenPMjournal">Expert Rev Neurother</span>
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2018 Jul;18(7):603-616.
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Epub 2018 Jun 28
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doi: 10.1080/14737175.2018.1489241.
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<span class="bold">PMID: </span><a href="/pubmed/29902389" target="_blank">29902389</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27558375">MR parkinsonism index predicts vertical supranuclear gaze palsy in patients with PSP-parkinsonism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quattrone A,
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Morelli M,
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Williams DR,
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Vescio B,
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Arabia G,
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Nigro S,
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Nicoletti G,
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Salsone M,
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Novellino F,
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Nisticò R,
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Pucci F,
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Chiriaco C,
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Pugliese P,
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Caracciolo M</span><br />
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26705121">Progressive supranuclear palsy: progression and survival.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Arena JE,
|
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Weigand SD,
|
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Whitwell JL,
|
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Hassan A,
|
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Eggers SD,
|
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Höglinger GU,
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Litvan I,
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Josephs KA</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2016 Feb;263(2):380-389.
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Epub 2015 Dec 24
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doi: 10.1007/s00415-015-7990-2.
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<span class="bold">PMID: </span><a href="/pubmed/26705121" target="_blank">26705121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2010 Jun 3;5:16.
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doi: 10.1186/1750-1172-5-16.
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<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%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 (31)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31752626">The Progressive Supranuclear Palsy: Past and Present Aspects.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Parthimos TP,
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||
Schulpis KH</span><br />
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<span class="medgenPMjournal">Clin Gerontol</span>
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2020 Mar-Apr;43(2):155-180.
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||
Epub 2019 Nov 22
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doi: 10.1080/07317115.2019.1694115.
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||
<span class="bold">PMID: </span><a href="/pubmed/31752626" target="_blank">31752626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26810719">Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilke C,
|
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Pomper JK,
|
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Biskup S,
|
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Puskás C,
|
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Berg D,
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Synofzik M</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2016 Mar;263(3):558-74.
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Epub 2016 Jan 25
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doi: 10.1007/s00415-016-8021-7.
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||
<span class="bold">PMID: </span><a href="/pubmed/26810719" target="_blank">26810719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23039766">Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Walterfang M,
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Chien YH,
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Imrie J,
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Rushton D,
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Schubiger D,
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Patterson MC</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2012 Oct 6;7:76.
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<span class="bold">PMID: </span><a href="/pubmed/23039766" target="_blank">23039766</a><a href="/pmc/articles/PMC3552828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertical%20supranuclear%20gaze%20palsy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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