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1223 lines
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<meta name="keywords" content="C1849156, disease or syndrome, spastic ataxia, spax, 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=376528
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ConceptID=C1849156
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spastic ataxia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376528</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:">C1849156</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spastic Ataxia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002497">HP:0002497</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017845" target="_blank">MONDO:0017845</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS108600" target="_blank">PS108600</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=316226">ORPHA316226</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet 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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1849156[DISCUI]&test_type=Clinical" ref="ncbi_uid=376528">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376528" ref="ncbi_uid=376528">V</a></span></span><span class="TLline">Spastic 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">Spastic ataxia</span><ul><li><span class="TLline"><a href="/medgen/905660" ref="tree=MeSH" title="MedGen record for Spasticity-ataxia-gait anomalies syndrome">Spasticity-ataxia-gait anomalies syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<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_341253"><div><strong>Methylmalonic aciduria and homocystinuria type cblD</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341253</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.">C1848552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336493"><div><strong>Spastic ataxia-corneal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336493</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.">C1849085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336493">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338620"><div><strong>Charlevoix-Saguenay spastic ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338620</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.">C1849140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354750"><div><strong>Spastic ataxia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354750</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.">C1862441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354750">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370715"><div><strong>Spastic ataxia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370715</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.">C1969645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leucoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370715">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370750"><div><strong>Spastic ataxia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370750</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.">C1969796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic ataxia-2 (SPAX2) is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370750">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409988"><div><strong>Spastic ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409988</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.">C1970107</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither life span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012). Genetic Heterogeneity of Spastic Ataxia See also SPAX2 (611302), caused by mutation in the KIF1C gene (603060) on chromosome 17p13; SPAX3 (611390), caused by rearrangements of the MARS2 gene (609728) on chromosome 2q33; SPAX4 (613672), caused by mutation in the MTPAP gene (613669) on chromosome 10p11; SPAX5 (614487), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; SPAX6 (270550), caused by mutation in the SACS gene (604490) on chromosome 13q12; SPAX7 (108650); SPAX8 (617560), caused by mutation in the NKX6-2 gene (605955) on chromosome 8q21; SPAX9 (618438), caused by mutation in the CHP1 gene (606988) on chromosome 15q15; and SPAX10 (620666), caused by mutation in the COQ4 gene (612898) on chromosome 9q34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462275"><div><strong>Spastic ataxia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462275</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.">C3150925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482032"><div><strong>Sclerosteosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482032</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.">C3280402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482032">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482607"><div><strong>Spastic ataxia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482607</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.">C3280977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482607">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905660"><div><strong>Spasticity-ataxia-gait anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905660</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.">C4225178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902592"><div><strong>Spinocerebellar ataxia type 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902592</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.">C4225205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-42 (SCA42) is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable. The disorder is slowly progressive (Coutelier et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902592">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1672866"><div><strong>Spinocerebellar ataxia, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1672866</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.">C5193058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1672866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1715081"><div><strong>Intellectual developmental disorder with autistic features and language delay, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1715081</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.">C5394447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by Guo et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1715081">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798906"><div><strong>Autosomal recessive spastic paraplegia type 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798906</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.">C5567483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841116"><div><strong>Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841116</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.">C5830480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex V deficiency nuclear type 4A (MC5DN4A) is an autosomal dominant metabolic disorder characterized by poor feeding and failure to thrive in early infancy. Laboratory studies show increased serum lactate, alanine, and ammonia, suggesting mitochondrial dysfunction. Some affected individuals show spontaneous resolution of these symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity; these neurologic deficits are persistent (Lines et al., 2021, Zech et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841116">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spastic paraplegia type 76</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charlevoix-Saguenay spastic ataxia</a></div>
|
||
<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>
|
||
<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>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1715081" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with autistic features and language delay, with or without seizures</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', 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_341253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblD</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerosteosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336493" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia-corneal dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity-ataxia-gait anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1672866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 27</a></div></span></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/33486633">Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Méreaux JL,
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Firanescu C,
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Coarelli G,
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Kvarnung M,
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Rodrigues R,
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Pegoraro E,
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Tazir M,
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Taithe F,
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Valter R,
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Huin V,
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Lidström K,
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Banneau G,
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Morais S,
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Parodi L,
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Coutelier M,
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Papin M,
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Svenningsson P,
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Azulay JP,
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Alonso I,
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Nilsson D,
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Brice A,
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Le Guern E,
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Press R,
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Vazza G,
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Loureiro JL,
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Goizet C,
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Durr A,
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Paucar M,
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Stevanin G</span><br />
|
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<span class="medgenPMjournal">Neurogenetics</span>
|
||
2021 Mar;22(1):71-79.
|
||
Epub 2021 Jan 23
|
||
doi: 10.1007/s10048-020-00633-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33486633" target="_blank">33486633</a><a href="/pmc/articles/PMC7997841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32273229">New generation genetic testing entering the clinic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorcenco S,
|
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Ilinca A,
|
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Almasoudi W,
|
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Kafantari E,
|
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Lindgren AG,
|
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Puschmann A</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2020 Apr;73:72-84.
|
||
Epub 2020 Mar 2
|
||
doi: 10.1016/j.parkreldis.2020.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32273229" target="_blank">32273229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24418350">EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Warrenburg BP,
|
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van Gaalen J,
|
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Boesch S,
|
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Burgunder JM,
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Dürr A,
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Giunti P,
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Klockgether T,
|
||
Mariotti C,
|
||
Pandolfo M,
|
||
Riess O</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2014 Apr;21(4):552-62.
|
||
Epub 2014 Jan 13
|
||
doi: 10.1111/ene.12341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24418350" target="_blank">24418350</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spastic%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 (8)</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/38884572">De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benkirane M,
|
||
Bonhomme M,
|
||
Morsy H,
|
||
Safgren SL,
|
||
Marelli C,
|
||
Chaussenot A,
|
||
Smedley D,
|
||
Cipriani V,
|
||
de Sainte-Agathe JM,
|
||
Ding C,
|
||
Larrieu L,
|
||
Vestito L,
|
||
Margot H,
|
||
Lesca G,
|
||
Ramond F,
|
||
Castrioto A,
|
||
Baux D,
|
||
Verheijen J,
|
||
Sansa E,
|
||
Giunti P,
|
||
Haetty A,
|
||
Bergougnoux A,
|
||
Pointaux M,
|
||
Ardouin O,
|
||
Van Goethem C,
|
||
Vincent MC,
|
||
Hadjivassiliou M,
|
||
Cossée M,
|
||
Rouaud T,
|
||
Bartsch O,
|
||
Freeman WD,
|
||
Wierenga KJ,
|
||
Klee EW,
|
||
Vandrovcova J,
|
||
Houlden H,
|
||
Debant A,
|
||
Koenig M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Nov 4;147(11):3681-3689.
|
||
doi: 10.1093/brain/awae193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884572" target="_blank">38884572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891078">Recessive ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Synofzik M,
|
||
Németh AH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:73-89.
|
||
doi: 10.1016/B978-0-444-64189-2.00005-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891078" target="_blank">29891078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29482223">Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coutelier M,
|
||
Hammer MB,
|
||
Stevanin G,
|
||
Monin ML,
|
||
Davoine CS,
|
||
Mochel F,
|
||
Labauge P,
|
||
Ewenczyk C,
|
||
Ding J,
|
||
Gibbs JR,
|
||
Hannequin D,
|
||
Melki J,
|
||
Toutain A,
|
||
Laugel V,
|
||
Forlani S,
|
||
Charles P,
|
||
Broussolle E,
|
||
Thobois S,
|
||
Afenjar A,
|
||
Anheim M,
|
||
Calvas P,
|
||
Castelnovo G,
|
||
de Broucker T,
|
||
Vidailhet M,
|
||
Moulignier A,
|
||
Ghnassia RT,
|
||
Tallaksen C,
|
||
Mignot C,
|
||
Goizet C,
|
||
Le Ber I,
|
||
Ollagnon-Roman E,
|
||
Pouget J,
|
||
Brice A,
|
||
Singleton A,
|
||
Durr A;
|
||
Spastic Paraplegia and Ataxia Network</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2018 May 1;75(5):591-599.
|
||
doi: 10.1001/jamaneurol.2017.5121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29482223" target="_blank">29482223</a><a href="/pmc/articles/PMC5885259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27430441">Hereditary and metabolic myelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hedera P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2016;136:769-85.
|
||
doi: 10.1016/B978-0-444-53486-6.00038-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27430441" target="_blank">27430441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25192506">Genetic cerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storey E</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2014 Jul;34(3):280-92.
|
||
Epub 2014 Sep 5
|
||
doi: 10.1055/s-0034-1386766.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25192506" target="_blank">25192506</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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 (113)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34782953">A Diagnostic Approach to Spastic ataxia Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedroso JL,
|
||
Vale TC,
|
||
França Junior MC,
|
||
Kauffman MA,
|
||
Teive H,
|
||
Barsottini OGP,
|
||
Munhoz RP</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2022 Dec;21(6):1073-1084.
|
||
Epub 2021 Nov 15
|
||
doi: 10.1007/s12311-021-01345-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34782953" target="_blank">34782953</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891078">Recessive ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Synofzik M,
|
||
Németh AH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:73-89.
|
||
doi: 10.1016/B978-0-444-64189-2.00005-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891078" target="_blank">29891078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891058">Spastic ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bereznyakova O,
|
||
Dupré N</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:191-203.
|
||
doi: 10.1016/B978-0-444-64189-2.00012-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891058" target="_blank">29891058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29613898">Hereditary Myelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hedera P</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2018 Apr;24(2, Spinal Cord Disorders):523-550.
|
||
doi: 10.1212/CON.0000000000000580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29613898" target="_blank">29613898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29482223">Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coutelier M,
|
||
Hammer MB,
|
||
Stevanin G,
|
||
Monin ML,
|
||
Davoine CS,
|
||
Mochel F,
|
||
Labauge P,
|
||
Ewenczyk C,
|
||
Ding J,
|
||
Gibbs JR,
|
||
Hannequin D,
|
||
Melki J,
|
||
Toutain A,
|
||
Laugel V,
|
||
Forlani S,
|
||
Charles P,
|
||
Broussolle E,
|
||
Thobois S,
|
||
Afenjar A,
|
||
Anheim M,
|
||
Calvas P,
|
||
Castelnovo G,
|
||
de Broucker T,
|
||
Vidailhet M,
|
||
Moulignier A,
|
||
Ghnassia RT,
|
||
Tallaksen C,
|
||
Mignot C,
|
||
Goizet C,
|
||
Le Ber I,
|
||
Ollagnon-Roman E,
|
||
Pouget J,
|
||
Brice A,
|
||
Singleton A,
|
||
Durr A;
|
||
Spastic Paraplegia and Ataxia Network</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2018 May 1;75(5):591-599.
|
||
doi: 10.1001/jamaneurol.2017.5121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29482223" target="_blank">29482223</a><a href="/pmc/articles/PMC5885259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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 (190)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32616363">Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Muhaizea MA,
|
||
AlQuait L,
|
||
AlRasheed A,
|
||
AlHarbi S,
|
||
Albader AA,
|
||
AlMass R,
|
||
Albakheet A,
|
||
Alhumaidan A,
|
||
AlRasheed MM,
|
||
Colak D,
|
||
Kaya N</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 Jul;30(7):611-615.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.nmd.2020.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32616363" target="_blank">32616363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29676235">Current and Promising Therapies in Autosomal Recessive Ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picher-Martel V,
|
||
Dupre N</span><br />
|
||
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
|
||
2018;17(3):161-171.
|
||
doi: 10.2174/1871527317666180419115029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29676235" target="_blank">29676235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21625752">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedroso JL,
|
||
Braga-Neto P,
|
||
Abrahão A,
|
||
Rivero RL,
|
||
Abdalla C,
|
||
Abdala N,
|
||
Barsottini OG</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2011;69(2B):288-91.
|
||
doi: 10.1590/s0004-282x2011000300004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21625752" target="_blank">21625752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21450511">Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhlal Y,
|
||
Amouri R,
|
||
El Euch-Fayeche G,
|
||
Hentati F</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2011 Jul;17(6):418-22.
|
||
Epub 2011 Mar 30
|
||
doi: 10.1016/j.parkreldis.2011.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21450511" target="_blank">21450511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16042503">Organophosphate-induced delayed polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lotti M,
|
||
Moretto A</span><br />
|
||
<span class="medgenPMjournal">Toxicol Rev</span>
|
||
2005;24(1):37-49.
|
||
doi: 10.2165/00139709-200524010-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16042503" target="_blank">16042503</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884572">De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benkirane M,
|
||
Bonhomme M,
|
||
Morsy H,
|
||
Safgren SL,
|
||
Marelli C,
|
||
Chaussenot A,
|
||
Smedley D,
|
||
Cipriani V,
|
||
de Sainte-Agathe JM,
|
||
Ding C,
|
||
Larrieu L,
|
||
Vestito L,
|
||
Margot H,
|
||
Lesca G,
|
||
Ramond F,
|
||
Castrioto A,
|
||
Baux D,
|
||
Verheijen J,
|
||
Sansa E,
|
||
Giunti P,
|
||
Haetty A,
|
||
Bergougnoux A,
|
||
Pointaux M,
|
||
Ardouin O,
|
||
Van Goethem C,
|
||
Vincent MC,
|
||
Hadjivassiliou M,
|
||
Cossée M,
|
||
Rouaud T,
|
||
Bartsch O,
|
||
Freeman WD,
|
||
Wierenga KJ,
|
||
Klee EW,
|
||
Vandrovcova J,
|
||
Houlden H,
|
||
Debant A,
|
||
Koenig M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Nov 4;147(11):3681-3689.
|
||
doi: 10.1093/brain/awae193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884572" target="_blank">38884572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37795104">Identification of SKOR2 IgG as a novel biomarker of paraneoplastic neurologic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rezk M,
|
||
Pittock SJ,
|
||
Kapadia RK,
|
||
Knight AM,
|
||
Guo Y,
|
||
Gupta P,
|
||
LaFrance-Corey RG,
|
||
Zekeridou A,
|
||
McKeon A,
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Dasari S,
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Dubey D</span><br />
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|
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2023;14:1243946.
|
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Epub 2023 Sep 18
|
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doi: 10.3389/fimmu.2023.1243946.
|
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<span class="bold">PMID: </span><a href="/pubmed/37795104" target="_blank">37795104</a><a href="/pmc/articles/PMC10546397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34663487">Leukodystrophy Due to eIF2B Mutations in Adults.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Shivaram S,
|
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Nagappa M,
|
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Seshagiri DV,
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Saini J,
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Taly AB</span><br />
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2022 Sep;49(5):708-712.
|
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Epub 2021 Sep 2
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/34663487" target="_blank">34663487</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33559318">Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Majethia P,
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Girisha KM</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2021 May;185(5):1602-1605.
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Epub 2021 Feb 8
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<span class="bold">PMID: </span><a href="/pubmed/33559318" target="_blank">33559318</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/32223977">Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benzoni C,
|
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Aquino D,
|
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Di Bella D,
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Sarto E,
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Moscatelli M,
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Pareyson D,
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Taroni F,
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Salsano E</span><br />
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<span class="medgenPMjournal">J Clin Neurosci</span>
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2020 May;75:221-223.
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Epub 2020 Mar 26
|
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doi: 10.1016/j.jocn.2020.03.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32223977" target="_blank">32223977</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39769008">Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perna L,
|
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Salsbury G,
|
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Dushti M,
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Smith CJ,
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Morales V,
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Bianchi K,
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Czibik G,
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 Dec 10;25(24)
|
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doi: 10.3390/ijms252413242.
|
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<span class="bold">PMID: </span><a href="/pubmed/39769008" target="_blank">39769008</a><a href="/pmc/articles/PMC11675909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884572">De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benkirane M,
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Bonhomme M,
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Morsy H,
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Safgren SL,
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Marelli C,
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Chaussenot A,
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Smedley D,
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Cipriani V,
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de Sainte-Agathe JM,
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Ding C,
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Larrieu L,
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Vestito L,
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Margot H,
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Lesca G,
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Ramond F,
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Castrioto A,
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Baux D,
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Verheijen J,
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Sansa E,
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Giunti P,
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Haetty A,
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Bergougnoux A,
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Pointaux M,
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Ardouin O,
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Van Goethem C,
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Vincent MC,
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Hadjivassiliou M,
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Cossée M,
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Rouaud T,
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Bartsch O,
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Freeman WD,
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Wierenga KJ,
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Klee EW,
|
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Vandrovcova J,
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Houlden H,
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Debant A,
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||
Koenig M</span><br />
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<span class="medgenPMjournal">Brain</span>
|
||
2024 Nov 4;147(11):3681-3689.
|
||
doi: 10.1093/brain/awae193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884572" target="_blank">38884572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32223977">Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benzoni C,
|
||
Aquino D,
|
||
Di Bella D,
|
||
Sarto E,
|
||
Moscatelli M,
|
||
Pareyson D,
|
||
Taroni F,
|
||
Salsano E</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2020 May;75:221-223.
|
||
Epub 2020 Mar 26
|
||
doi: 10.1016/j.jocn.2020.03.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32223977" target="_blank">32223977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21850161">Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pablo LE,
|
||
Garcia-Martin E,
|
||
Gazulla J,
|
||
Larrosa JM,
|
||
Ferreras A,
|
||
Santorelli FM,
|
||
Benavente I,
|
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Vela A,
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Marin MA</span><br />
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<span class="medgenPMjournal">Mol Vis</span>
|
||
2011;17:1871-6.
|
||
Epub 2011 Jul 13
|
||
<span class="bold">PMID: </span><a href="/pubmed/21850161" target="_blank">21850161</a><a href="/pmc/articles/PMC3144729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16042503">Organophosphate-induced delayed polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lotti M,
|
||
Moretto A</span><br />
|
||
<span class="medgenPMjournal">Toxicol Rev</span>
|
||
2005;24(1):37-49.
|
||
doi: 10.2165/00139709-200524010-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16042503" target="_blank">16042503</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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 (98)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38232176">Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry SE,
|
||
Troche M,
|
||
Huber JE,
|
||
Curtis J,
|
||
Kiefer B,
|
||
Sevitz J,
|
||
Dennard Q,
|
||
Borders J,
|
||
Browy JR,
|
||
Dakin A,
|
||
Gonzalez V,
|
||
Chapman J,
|
||
Wu T,
|
||
Katz L,
|
||
Britton D</span><br />
|
||
<span class="medgenPMjournal">Am J Speech Lang Pathol</span>
|
||
2024 Mar 7;33(2):1069-1097.
|
||
Epub 2024 Jan 17
|
||
doi: 10.1044/2023_AJSLP-23-00274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38232176" target="_blank">38232176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%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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<div class="supplemental col three_col last">
|
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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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1849156%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849156%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1849156%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS108600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=316226" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spastic%20ataxia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spastic%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spastic%20ataxia" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/21401/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<li>
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<a href="/pubmed/clinical?term=Spastic%20ataxia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Spastic%20ataxia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=376528" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1849156[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1849156[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=376528" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=376528" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=376528" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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