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<meta name="keywords" content="C0393525, ataxia, progressive, cerebellar ataxia, progressive, disease or syndrome, progressive ataxia, progressive cerebellar ataxia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=140727
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ConceptID=C0393525
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive cerebellar ataxia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140727</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:">C0393525</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Ataxia, progressive; Cerebellar ataxia, progressive; Progressive ataxia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
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<td>Progressive cerebellar ataxia (230233000)</td></tr>
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<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:0002073">HP:0002073</a></td></tr>
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<div class="portlet mgSection" id="ID_118">
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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="TLline">Progressive cerebellar ataxia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span><ul><li><span class="TLline"><a href="/medgen/849" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia">Cerebellar ataxia</a></span><ul><li><span class="matched_ds">Progressive cerebellar ataxia</span></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">
|
||
<div class="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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.">C0004135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/439">Condition Record</a></div></div>
|
||
<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_90978"><div><strong>Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90978</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.">C0342284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90978">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.">C0752120</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_199815"><div><strong>Spinocerebellar ataxia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199815</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.">C0752122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 4 (SCA4) is a progressive neurologic disease characterized by cerebellar involvement (gait ataxia, balance disturbances, eye movement abnormalities), brain stem involvement (dysarthria, dysphagia), sensory neuropathy, motor neuron involvement (muscle wasting and spasticity), autonomic dysfunction (especially orthostatic hypotension), and cognition and/or behavior manifestations. Age of onset ranges from 12 to 65 years. In the approximately 10% of individuals whose onset is before age 25 years disease manifestations are more severe and often different from those with later-onset disease. As the disease progresses, particularly in those with early-onset disease, eye movement abnormalities, dysarthria, dysphagia, sensory neuropathy, upper and lower motor neuron involvement, and orthostatic hypotension can further aggravate balance and gait problems. Most individuals eventually require a walker or wheelchair. Reduced life expectancy in individuals with earlier-onset severe SCA4 is associated with weight loss, infections, and cardiac arrhythmia. Life expectancy is normal or near normal in individuals with later-onset SCA4.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/199815">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_148458"><div><strong>Spinocerebellar ataxia type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148458</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.">C0752124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/148458">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_156006"><div><strong>Spinocerebellar ataxia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>156006</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.">C0752125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/156006">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_923000"><div><strong>Intellectual disability, X-linked 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923000</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.">C0796221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CLCN4-related neurodevelopmental disorder (CLCN4-NDD), an X-linked disorder, is characterized in the 36 males reported to date by developmental delay or intellectual disability, behavioral/mental health issues (e.g., autism spectrum disorder, anxiety, hyperactivity, and bipolar disorder), epilepsy, and gastrointestinal dysfunction. The five heterozygous females with a de novo CLCN4 variant reported to date had findings very similar to those of affected males. Twenty-two of 25 heterozygous females identified in family studies following identification of an affected male were unaffected or had only mild specific learning difficulties and/or mental health concerns, whereas three were more severely affected.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/923000">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_314039"><div><strong>Episodic ataxia type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314039</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.">C1720416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/314039">Condition Record</a></div></div>
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||
<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>
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||
<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_375311"><div><strong>Spinocerebellar ataxia type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375311</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.">C1843891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339504"><div><strong>Spinocerebellar ataxia type 19/22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339504</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.">C1846367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spinocerebellar ataxia-19 (SCA19) is an autosomal dominant disorder characterized by progressive cerebellar ataxia with a variable age of onset (age 2 years to late adulthood). Other neurologic manifestations include developmental delay and cognitive impairment; movement disorders including myoclonus, dystonia, rigidity, and bradykinesia; and seizures. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341248"><div><strong>Familial isolated deficiency of vitamin E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341248</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.">C1848533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Untreated ataxia with vitamin E deficiency (AVED) generally manifests between ages five and 15 years. The first manifestations include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. Although age of onset and disease course are more uniform within a given family, disease manifestations and their severity can vary even among sibs. When lifelong high-dose vitamin E supplementation is initiated in presymptomatic individuals, manifestations of AVED do not develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341248">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343106"><div><strong>Spinocerebellar ataxia type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343106</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.">C1854369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344297"><div><strong>Spinocerebellar ataxia type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344297</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.">C1854488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346799"><div><strong>Spinocerebellar ataxia type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346799</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.">C1858351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347653"><div><strong>Spinocerebellar ataxia type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347653</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.">C1858501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349136"><div><strong>Cerebellar ataxia, benign, with thermoanalgesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349136</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.">C1859303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349136">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_368373"><div><strong>Mevalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368373</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.">C1959626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mevalonic aciduria (MEVA), the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/368373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_369786"><div><strong>Spinocerebellar ataxia type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369786</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.">C1963674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_392987"><div><strong>Dystonia with cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>392987</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.">C2673697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/392987">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_907932"><div><strong>Early-onset Lafora body disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907932</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.">C4225258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Progressive myoclonic epilepsy-10 (EPM10) is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/907932">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1680160"><div><strong>Global developmental delay, progressive ataxia, and elevated glutamine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680160</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.">C5193080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. Three patients have been reported (summary by van Kuilenburg et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1680160">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1715031"><div><strong>Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1715031</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.">C5394335</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, tremor, optic atrophy, and cognitive decline (CONATOC) is an autosomal recessive progressive disorder with onset of symptoms in the first decade. Brain imaging may show variable features, including leukoencephalopathy and cerebellar atrophy (summary by Fagerberg et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1715031">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, benign, with thermoanalgesia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_392987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia with cerebellar atrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (25)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset Lafora body disease</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_314039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial isolated deficiency of vitamin E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay, progressive ataxia, and elevated glutamine</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 49</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_368373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mevalonic aciduria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1715031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_156006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia 7</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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 19/22</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_375311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_199815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_148458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 6</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="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/38657195">Clinical Presentation, Management, and Diagnostic Performance of 2021 Criteria for Paraneoplastic Neurologic Syndromes in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou J,
|
||
Jin M,
|
||
Su Y,
|
||
Zhuo X,
|
||
Fu L,
|
||
Ren X,
|
||
Ren C,
|
||
Zhou A,
|
||
Li J,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2024 May;11(3):e200242.
|
||
Epub 2024 Apr 24
|
||
doi: 10.1212/NXI.0000000000200242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38657195" target="_blank">38657195</a><a href="/pmc/articles/PMC11087047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32791865">Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
|
||
Ranjouri MR,
|
||
Lavin M,
|
||
Abolhassani H,
|
||
Yazdani R,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
|
||
2020 Sep;16(9):859-871.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1080/1744666X.2020.1810570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32791865" target="_blank">32791865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25808499">Acquired ataxias: the clinical spectrum, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nachbauer W,
|
||
Eigentler A,
|
||
Boesch S</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2015 May;262(5):1385-93.
|
||
Epub 2015 Mar 26
|
||
doi: 10.1007/s00415-015-7685-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25808499" target="_blank">25808499</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20cerebellar%20ataxia%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 (15)</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/37248494">N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fields T,
|
||
M Bremova T,
|
||
Billington I,
|
||
Churchill GC,
|
||
Evans W,
|
||
Fields C,
|
||
Galione A,
|
||
Kay R,
|
||
Mathieson T,
|
||
Martakis K,
|
||
Patterson M,
|
||
Platt F,
|
||
Factor M,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Trials</span>
|
||
2023 May 29;24(1):361.
|
||
doi: 10.1186/s13063-023-07399-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37248494" target="_blank">37248494</a><a href="/pmc/articles/PMC10226221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36493768">An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafehi H,
|
||
Read J,
|
||
Szmulewicz DJ,
|
||
Davies KC,
|
||
Snell P,
|
||
Fearnley LG,
|
||
Scott L,
|
||
Thomsen M,
|
||
Gillies G,
|
||
Pope K,
|
||
Bennett MF,
|
||
Munro JE,
|
||
Ngo KJ,
|
||
Chen L,
|
||
Wallis MJ,
|
||
Butler EG,
|
||
Kumar KR,
|
||
Wu KH,
|
||
Tomlinson SE,
|
||
Tisch S,
|
||
Malhotra A,
|
||
Lee-Archer M,
|
||
Dolzhenko E,
|
||
Eberle MA,
|
||
Roberts LJ,
|
||
Fogel BL,
|
||
Brüggemann N,
|
||
Lohmann K,
|
||
Delatycki MB,
|
||
Bahlo M,
|
||
Lockhart PJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2023 Jan 5;110(1):105-119.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/j.ajhg.2022.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36493768" target="_blank">36493768</a><a href="/pmc/articles/PMC9892775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32791865">Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
|
||
Ranjouri MR,
|
||
Lavin M,
|
||
Abolhassani H,
|
||
Yazdani R,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
|
||
2020 Sep;16(9):859-871.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1080/1744666X.2020.1810570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32791865" target="_blank">32791865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20069236">Spinocerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teive HA</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2009 Dec;67(4):1133-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20069236" target="_blank">20069236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19864636">Intensive coordinative training improves motor performance in degenerative cerebellar disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilg W,
|
||
Synofzik M,
|
||
Brötz D,
|
||
Burkard S,
|
||
Giese MA,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Dec 1;73(22):1823-30.
|
||
Epub 2009 Oct 28
|
||
doi: 10.1212/WNL.0b013e3181c33adf.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19864636" target="_blank">19864636</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cerebellar%20ataxia%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 (145)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36493768">An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafehi H,
|
||
Read J,
|
||
Szmulewicz DJ,
|
||
Davies KC,
|
||
Snell P,
|
||
Fearnley LG,
|
||
Scott L,
|
||
Thomsen M,
|
||
Gillies G,
|
||
Pope K,
|
||
Bennett MF,
|
||
Munro JE,
|
||
Ngo KJ,
|
||
Chen L,
|
||
Wallis MJ,
|
||
Butler EG,
|
||
Kumar KR,
|
||
Wu KH,
|
||
Tomlinson SE,
|
||
Tisch S,
|
||
Malhotra A,
|
||
Lee-Archer M,
|
||
Dolzhenko E,
|
||
Eberle MA,
|
||
Roberts LJ,
|
||
Fogel BL,
|
||
Brüggemann N,
|
||
Lohmann K,
|
||
Delatycki MB,
|
||
Bahlo M,
|
||
Lockhart PJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2023 Jan 5;110(1):105-119.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/j.ajhg.2022.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36493768" target="_blank">36493768</a><a href="/pmc/articles/PMC9892775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36342673">Slowly Progressive Cerebellar Ataxia in a 55-Year-Old Female Patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuesta Bernaola M,
|
||
Ganguly J,
|
||
Jog M</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jan 1;80(1):107-108.
|
||
doi: 10.1001/jamaneurol.2022.3791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36342673" target="_blank">36342673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32791865">Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
|
||
Ranjouri MR,
|
||
Lavin M,
|
||
Abolhassani H,
|
||
Yazdani R,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
|
||
2020 Sep;16(9):859-871.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1080/1744666X.2020.1810570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32791865" target="_blank">32791865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30685876">Ataxia-telangiectasia: A review of clinical features and molecular pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
|
||
Ranjouri MR,
|
||
Yazdani R,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
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2019 May;30(3):277-288.
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Epub 2019 Mar 20
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doi: 10.1111/pai.13020.
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<span class="bold">PMID: </span><a href="/pubmed/30685876" target="_blank">30685876</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/22071889">Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jacquemin V,
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Rieunier G,
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Jacob S,
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Bellanger D,
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d'Enghien CD,
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Laugé A,
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2012 Mar;20(3):305-12.
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<span class="bold">PMID: </span><a href="/pubmed/22071889" target="_blank">22071889</a><a href="/pmc/articles/PMC3283185" 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=%22Progressive%20cerebellar%20ataxia%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 (243)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38483130">Central nervous system adverse events of immune checkpoint inhibitors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farina A,
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Villagrán-García M,
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Vogrig A,
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Joubert B</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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Epub 2024 Mar 14
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doi: 10.1097/WCO.0000000000001259.
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<span class="bold">PMID: </span><a href="/pubmed/38483130" target="_blank">38483130</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37248494">N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fields T,
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M Bremova T,
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Billington I,
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Churchill GC,
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Evans W,
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Fields C,
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Galione A,
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Kay R,
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Mathieson T,
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Martakis K,
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Patterson M,
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Platt F,
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Factor M,
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<span class="bold">PMID: </span><a href="/pubmed/37248494" target="_blank">37248494</a><a href="/pmc/articles/PMC10226221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34019331">Spinocerebellar ataxia clinical trials: opportunities and challenges.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brooker SM,
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Edamakanti CR,
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Akasha SM,
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<div class="nl"><a target="_blank" href="/pubmed/29427108">Clinical Features of Machado-Joseph Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mendonça N,
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França MC Jr,
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Gonçalves AF,
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<div class="nl"><a target="_blank" href="/pubmed/19864636">Intensive coordinative training improves motor performance in degenerative cerebellar disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ilg W,
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Synofzik M,
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Brötz D,
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Burkard S,
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Giese MA,
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Schöls L</span><br />
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doi: 10.1212/WNL.0b013e3181c33adf.
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<span class="bold">PMID: </span><a href="/pubmed/19864636" target="_blank">19864636</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cerebellar%20ataxia%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38483130">Central nervous system adverse events of immune checkpoint inhibitors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farina A,
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Villagrán-García M,
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Vogrig A,
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Joubert B</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2024 Jun 1;37(3):345-352.
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Epub 2024 Mar 14
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doi: 10.1097/WCO.0000000000001259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38483130" target="_blank">38483130</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/36396537">A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Koga S,
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Ali S,
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Baker MC,
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Wierenga KJ,
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Dompenciel M,
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Dickson DW,
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Wszolek ZK</span><br />
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Epub 2022 Nov 11
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<span class="bold">PMID: </span><a href="/pubmed/36396537" target="_blank">36396537</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34817790">Anti-Tr/DNER Antibody-Associated Cerebellar Ataxia: a Systematic Review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Campana IG,
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Silva GD</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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2022 Dec;21(6):1085-1091.
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Epub 2021 Nov 24
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doi: 10.1007/s12311-021-01346-4.
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<span class="bold">PMID: </span><a href="/pubmed/34817790" target="_blank">34817790</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32791865">Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amirifar P,
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Ranjouri MR,
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Lavin M,
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Abolhassani H,
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Yazdani R,
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Aghamohammadi A</span><br />
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<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
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2020 Sep;16(9):859-871.
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Epub 2020 Oct 15
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doi: 10.1080/1744666X.2020.1810570.
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<span class="bold">PMID: </span><a href="/pubmed/32791865" target="_blank">32791865</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/19864636">Intensive coordinative training improves motor performance in degenerative cerebellar disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilg W,
|
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Synofzik M,
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Brötz D,
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Burkard S,
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Giese MA,
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Schöls L</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2009 Dec 1;73(22):1823-30.
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Epub 2009 Oct 28
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doi: 10.1212/WNL.0b013e3181c33adf.
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<span class="bold">PMID: </span><a href="/pubmed/19864636" target="_blank">19864636</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cerebellar%20ataxia%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 (84)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38581205">Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaiyrzhanov R,
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Ortigoza-Escobar JD,
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Stringer BW,
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Ganieva M,
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Gowda VK,
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Srinivasan VM,
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Macaya A,
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Laner A,
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Onbool E,
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Al-Shammari R,
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Al-Owain M,
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Deconinck N,
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Vilain C,
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Dontaine P,
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Self E,
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Akram R,
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Hussain G,
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Baig SM,
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Iqbal J,
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Salpietro V,
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Neshatdoust M,
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Kasiri M,
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Yesil G,
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Uygur T,
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Pysden K,
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Berry IR,
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Alves CA,
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<span class="bold">PMID: </span><a href="/pubmed/38581205" target="_blank">38581205</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/38483130">Central nervous system adverse events of immune checkpoint inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farina A,
|
||
Villagrán-García M,
|
||
Vogrig A,
|
||
Joubert B</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2024 Jun 1;37(3):345-352.
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Epub 2024 Mar 14
|
||
doi: 10.1097/WCO.0000000000001259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38483130" target="_blank">38483130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37248494">N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fields T,
|
||
M Bremova T,
|
||
Billington I,
|
||
Churchill GC,
|
||
Evans W,
|
||
Fields C,
|
||
Galione A,
|
||
Kay R,
|
||
Mathieson T,
|
||
Martakis K,
|
||
Patterson M,
|
||
Platt F,
|
||
Factor M,
|
||
Strupp M</span><br />
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||
<span class="medgenPMjournal">Trials</span>
|
||
2023 May 29;24(1):361.
|
||
doi: 10.1186/s13063-023-07399-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37248494" target="_blank">37248494</a><a href="/pmc/articles/PMC10226221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36493768">An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafehi H,
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Read J,
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Szmulewicz DJ,
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Davies KC,
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Snell P,
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Fearnley LG,
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Scott L,
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Thomsen M,
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Gillies G,
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Pope K,
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Bennett MF,
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Munro JE,
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Ngo KJ,
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Chen L,
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Wallis MJ,
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Butler EG,
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Kumar KR,
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Wu KH,
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Tomlinson SE,
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Tisch S,
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Malhotra A,
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Lee-Archer M,
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Dolzhenko E,
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Eberle MA,
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Roberts LJ,
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Fogel BL,
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Brüggemann N,
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Lohmann K,
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Delatycki MB,
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Bahlo M,
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Lockhart PJ</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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||
2023 Jan 5;110(1):105-119.
|
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Epub 2022 Dec 8
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doi: 10.1016/j.ajhg.2022.11.015.
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||
<span class="bold">PMID: </span><a href="/pubmed/36493768" target="_blank">36493768</a><a href="/pmc/articles/PMC9892775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19864636">Intensive coordinative training improves motor performance in degenerative cerebellar disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilg W,
|
||
Synofzik M,
|
||
Brötz D,
|
||
Burkard S,
|
||
Giese MA,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Dec 1;73(22):1823-30.
|
||
Epub 2009 Oct 28
|
||
doi: 10.1212/WNL.0b013e3181c33adf.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19864636" target="_blank">19864636</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cerebellar%20ataxia%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 (93)</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/34817790">Anti-Tr/DNER Antibody-Associated Cerebellar Ataxia: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campana IG,
|
||
Silva GD</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2022 Dec;21(6):1085-1091.
|
||
Epub 2021 Nov 24
|
||
doi: 10.1007/s12311-021-01346-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34817790" target="_blank">34817790</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cerebellar%20ataxia%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 (1)</a></div></div>
|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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