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<meta name="keywords" content="C3668943, disease or syndrome, dysmyelinating leukodystrophy and spastic paraparesis, fahn, fatty acid hydroxylase associated neurodegeneration, fatty acid hydroxylase-associated neurodegeneration, spastic paraplegia 35, spastic paraplegia 35, autosomal recessive, with or without neurodegeneration, 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="Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA)." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=777150
|
||
ConceptID=C3668943
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK56080/bin/fahn-Image001.gif" src-large="/books/NBK56080/bin/fahn-Image001.jpg" /></a><br /><a href="/books/NBK56080/figure/fahn.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Fatty acid hydroxylase-associated neurodegeneration<span class="h1sub">(FAHN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777150</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.">C3668943</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>Dysmyelinating Leukodystrophy and Spastic Paraparesis; Fatty Acid Hydroxylase-Associated Neurodegeneration; Spastic Paraplegia 35</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Fatty acid hydroxylase associated neurodegeneration (702419001); Dysmyelinating leukodystrophy and spastic paraparesis (702419001); Spastic paraplegia 35 (702419001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017999" target="_blank">MONDO:0017999</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612319" target="_blank">612319</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=329308">ORPHA329308</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK56080" target="_blank">Fatty Acid Hydroxylase-Associated Neurodegeneration</a></div><div>Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK56080#fahn.Summary" target="NBK56080">Summary</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Diagnosis" target="NBK56080">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Clinical_Characteristics" target="NBK56080">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Genetically_Related_Allelic_Disorde" target="NBK56080">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Differential_Diagnosis" target="NBK56080">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Management" target="NBK56080">Management</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Genetic_Counseling" target="NBK56080">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Resources" target="NBK56080">Resources</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Molecular_Genetics" target="NBK56080">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.Chapter_Notes" target="NBK56080">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK56080#fahn.References" target="NBK56080">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Allison Gregory | Sunita Venkateswaran | Susan J Hayflick <a href="/books/NBK56080" target="NBK56080" title="NCBI Bookshelf: Fatty Acid Hydroxylase-Associated Neurodegeneration">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autosomal recessive spastic paraplegia-35 (SPG35) is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN).
|
||
In a detailed report of 19 patients with biallelic FA2H mutations, Rattay et al. (2019) stated that the phenotype was diagnostically consistent with a complicated form of SPG. The authors concluded that FA2H mutations cause a narrow phenotype despite prior attempts to classify it into separately defined disease entities.
|
||
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). <a target="_blank" href="http://www.omim.org/entry/612319">http://www.omim.org/entry/612319</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931845[DISCUI]&test_type=Clinical" ref="ncbi_uid=444156">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK121988/" ref="ncbi_uid=444156">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444156" ref="ncbi_uid=444156">V</a></span></span><span class="TLline"><a href="/medgen/444156" ref="tree=GTR&ncbi_uid=444156&link_uid=444156" title="View MedGen record for 'Neurodegeneration with brain iron accumulation'">Neurodegeneration with brain iron accumulation</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0878682[DISCUI]&test_type=Clinical" ref="ncbi_uid=168057">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0878682[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=168057">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=168057" target="_blank" href="/omim/117700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1493%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=168057">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=168057" ref="ncbi_uid=168057">V</a></span></span><span class="TLline"><a href="/medgen/168057" ref="tree=GTR&ncbi_uid=168057&link_uid=168057" title="View MedGen record for 'Deficiency of ferroxidase'">Deficiency of ferroxidase</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310667[DISCUI]&test_type=Clinical" ref="ncbi_uid=934634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934634" target="_blank" href="/omim/604934">O</a></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=934634" ref="ncbi_uid=934634">V</a></span></span><span class="TLline"><a href="/medgen/934634" ref="tree=GTR&ncbi_uid=934634&link_uid=934634" title="View MedGen record for 'Encephalopathy, progressive, with amyotrophy and optic atrophy'">Encephalopathy, progressive, with amyotrophy and optic atrophy</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3668943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=777150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777150" target="_blank" href="/omim/612319">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK56080/" ref="ncbi_uid=777150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Fatty acid hydroxylase-associated neurodegeneration</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3496228[DISCUI]&test_type=Clinical" ref="ncbi_uid=501249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501249" target="_blank" href="/omim/611026">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK56080%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=501249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501249" ref="ncbi_uid=501249">V</a></span></span><span class="TLline"><a href="/medgen/501249" ref="tree=GTR&ncbi_uid=501249&link_uid=501249" title="View MedGen record for 'Hereditary spastic paraplegia 35'">Hereditary spastic paraplegia 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847640[DISCUI]&test_type=Clinical" ref="ncbi_uid=338281">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338281" target="_blank" href="/omim/606693">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=338281">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338281" ref="ncbi_uid=338281">V</a></span></span><span class="TLline"><a href="/medgen/338281" ref="tree=GTR&ncbi_uid=338281&link_uid=338281" title="View MedGen record for 'Kufor-Rakeb syndrome'">Kufor-Rakeb syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/830971" ref="tree=GTR&ncbi_uid=830971&link_uid=830971" title="View MedGen record for 'Parkinsonism due to ATP13A2 deficiency'">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280371[DISCUI]&test_type=Clinical" ref="ncbi_uid=482001">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482001" target="_blank" href="/omim/614298">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK185329)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=482001">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482001" ref="ncbi_uid=482001">V</a></span></span><span class="TLline"><a href="/medgen/482001" ref="tree=GTR&ncbi_uid=482001&link_uid=482001" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 4'">Neurodegeneration with brain iron accumulation 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3550973[DISCUI]&test_type=Clinical" ref="ncbi_uid=763887">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763887" target="_blank" href="/omim/300526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK424403)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=763887">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763887" ref="ncbi_uid=763887">V</a></span></span><span class="TLline"><a href="/medgen/763887" ref="tree=GTR&ncbi_uid=763887&link_uid=763887" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 5'">Neurodegeneration with brain iron accumulation 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4517377[DISCUI]&test_type=Clinical" ref="ncbi_uid=1387791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1387791" target="_blank" href="/omim/609855">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK121988/" ref="ncbi_uid=1387791">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1387791" ref="ncbi_uid=1387791">V</a></span></span><span class="TLline"><a href="/medgen/1387791" ref="tree=GTR&ncbi_uid=1387791&link_uid=1387791" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 6'">Neurodegeneration with brain iron accumulation 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693583[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647672" target="_blank" href="/omim/614825">O</a></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=1647672" ref="ncbi_uid=1647672">V</a></span></span><span class="TLline"><a href="/medgen/1647672" ref="tree=GTR&ncbi_uid=1647672&link_uid=1647672" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 7'">Neurodegeneration with brain iron accumulation 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693587[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645224">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645224" target="_blank" href="/omim/600184">O</a></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=1645224" ref="ncbi_uid=1645224">V</a></span></span><span class="TLline"><a href="/medgen/1645224" ref="tree=GTR&ncbi_uid=1645224&link_uid=1645224" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 8'">Neurodegeneration with brain iron accumulation 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853578[DISCUI]&test_type=Clinical" ref="ncbi_uid=381211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381211" target="_blank" href="/omim/134790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1141%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=381211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381211" ref="ncbi_uid=381211">V</a></span></span><span class="TLline"><a href="/medgen/381211" ref="tree=GTR&ncbi_uid=381211&link_uid=381211" title="View MedGen record for 'Neuroferritinopathy'">Neuroferritinopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0018523[DISCUI]&test_type=Clinical" ref="ncbi_uid=6708">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6708" target="_blank" href="/omim/234200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1490%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=6708">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6708" ref="ncbi_uid=6708">V</a></span></span><span class="TLline"><a href="/medgen/6708" ref="tree=GTR&ncbi_uid=6708&link_uid=6708" title="View MedGen record for 'Pigmentary pallidal degeneration'">Pigmentary pallidal degeneration</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1800044" ref="tree=GTR&ncbi_uid=1800044&link_uid=1800044" title="View MedGen record for 'Atypical pantothenate kinase-associated neurodegeneration'">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5679812[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1826057">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826057" ref="tree=GTR&ncbi_uid=1826057&link_uid=1826057" title="View MedGen record for 'Classic pantothenate kinase-associated neurodegeneration'">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN204472[DISCUI]&test_type=Clinical" ref="ncbi_uid=831067">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1675/" ref="ncbi_uid=831067">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=831067" ref="ncbi_uid=831067">V</a></span></span><span class="TLline"><a href="/medgen/831067" ref="tree=GTR&ncbi_uid=831067&link_uid=831067" title="View MedGen record for 'PLA2G6-associated neurodegeneration'">PLA2G6-associated neurodegeneration</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751842[DISCUI]&test_type=Clinical" ref="ncbi_uid=414488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414488" target="_blank" href="/omim/612953">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=414488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414488" ref="ncbi_uid=414488">V</a></span></span><span class="TLline"><a href="/medgen/414488" ref="tree=GTR&ncbi_uid=414488&link_uid=414488" title="View MedGen record for 'Autosomal recessive Parkinson disease 14'">Autosomal recessive Parkinson disease 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270724[DISCUI]&test_type=Clinical" ref="ncbi_uid=82852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82852" target="_blank" href="/omim/256600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1675%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82852" ref="ncbi_uid=82852">V</a></span></span><span class="TLline"><a href="/medgen/82852" ref="tree=GTR&ncbi_uid=82852&link_uid=82852" title="View MedGen record for 'Infantile neuroaxonal dystrophy'">Infantile neuroaxonal dystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857747[DISCUI]&test_type=Clinical" ref="ncbi_uid=346658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346658" target="_blank" href="/omim/603604">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1675/" ref="ncbi_uid=346658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346658" ref="ncbi_uid=346658">V</a></span></span><span class="TLline"><a href="/medgen/346658" ref="tree=GTR&ncbi_uid=346658&link_uid=346658" title="View MedGen record for 'Neurodegeneration with brain iron accumulation 2B'">Neurodegeneration with brain iron accumulation 2B</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342286[DISCUI]&test_type=Clinical" ref="ncbi_uid=83337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83337" target="_blank" href="/omim/241080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK121988%20OR%20NBK378974)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=83337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83337" ref="ncbi_uid=83337">V</a></span></span><span class="TLline"><a href="/medgen/83337" ref="tree=GTR&ncbi_uid=83337&link_uid=83337" title="View MedGen record for 'Woodhouse-Sakati syndrome'">Woodhouse-Sakati syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843346" ref="tree=MeSH" title="MedGen record for Autosomal recessive complex spastic paraplegia">Autosomal recessive complex spastic paraplegia</a></span><ul><li><span class="matched_ds">Fatty acid hydroxylase-associated neurodegeneration</span></li></ul></li></ul></div></div></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/34347296">Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilson JL,
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Gregory A,
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Kurian MA,
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||
Bushlin I,
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Mochel F,
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||
Emrick L,
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Adang L;
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BPAN Guideline Contributing Author Group,
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Hogarth P,
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Hayflick SJ</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2021 Dec;63(12):1402-1409.
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Epub 2021 Aug 4
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doi: 10.1111/dmcn.14980.
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<span class="bold">PMID: </span><a href="/pubmed/34347296" target="_blank">34347296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fatty%20acid%20hydroxylase-associated%20neurodegeneration%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 (1)</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/37420081">Cranial geometry in patients with dystonia and Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujikawa J,
|
||
Morigaki R,
|
||
Miyake K,
|
||
Matsuda T,
|
||
Koyama H,
|
||
Oda T,
|
||
Yamamoto N,
|
||
Izumi Y,
|
||
Mure H,
|
||
Goto S,
|
||
Takagi Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 7;13(1):11003.
|
||
doi: 10.1038/s41598-023-37833-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37420081" target="_blank">37420081</a><a href="/pmc/articles/PMC10328944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34347296">Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson JL,
|
||
Gregory A,
|
||
Kurian MA,
|
||
Bushlin I,
|
||
Mochel F,
|
||
Emrick L,
|
||
Adang L;
|
||
BPAN Guideline Contributing Author Group,
|
||
Hogarth P,
|
||
Hayflick SJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Dec;63(12):1402-1409.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1111/dmcn.14980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34347296" target="_blank">34347296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
||
Kurian MA,
|
||
Hogarth P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:293-305.
|
||
doi: 10.1016/B978-0-444-63233-3.00019-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487380">A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salomão RP,
|
||
Pedroso JL,
|
||
Gama MT,
|
||
Dutra LA,
|
||
Maciel RH,
|
||
Godeiro-Junior C,
|
||
Chien HF,
|
||
Teive HA,
|
||
Cardoso F,
|
||
Barsottini OG</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2016 Jul;74(7):587-96.
|
||
doi: 10.1590/0004-282X20160080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487380" target="_blank">27487380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27316240">Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soehn AS,
|
||
Rattay TW,
|
||
Beck-Wödl S,
|
||
Schäferhoff K,
|
||
Monk D,
|
||
Döbler-Neumann M,
|
||
Hörtnagel K,
|
||
Schlüter A,
|
||
Ruiz M,
|
||
Pujol A,
|
||
Züchner S,
|
||
Riess O,
|
||
Schüle R,
|
||
Bauer P,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 12;87(2):186-91.
|
||
Epub 2016 Jun 17
|
||
doi: 10.1212/WNL.0000000000002843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27316240" target="_blank">27316240</a><a href="/pmc/articles/PMC4940069" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651973">Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Otmani H,
|
||
El Moutawakil B,
|
||
Daghi M,
|
||
Fadili O,
|
||
Slassi I,
|
||
El Azhari A,
|
||
Essodegui F,
|
||
Barrou L,
|
||
Rafai MA,
|
||
Lakhdar A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Nov;148:23-27.
|
||
Epub 2023 Aug 9
|
||
doi: 10.1016/j.pediatrneurol.2023.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37651973" target="_blank">37651973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37410270">The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashemi N,
|
||
Abadi RNS,
|
||
Alavi A,
|
||
Rohani M,
|
||
Ghasemi A,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Dec;44(12):4359-4362.
|
||
Epub 2023 Jul 6
|
||
doi: 10.1007/s10072-023-06932-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37410270" target="_blank">37410270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34347296">Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson JL,
|
||
Gregory A,
|
||
Kurian MA,
|
||
Bushlin I,
|
||
Mochel F,
|
||
Emrick L,
|
||
Adang L;
|
||
BPAN Guideline Contributing Author Group,
|
||
Hogarth P,
|
||
Hayflick SJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Dec;63(12):1402-1409.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1111/dmcn.14980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34347296" target="_blank">34347296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
||
Kurian MA,
|
||
Hogarth P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:293-305.
|
||
doi: 10.1016/B978-0-444-63233-3.00019-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487380">A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salomão RP,
|
||
Pedroso JL,
|
||
Gama MT,
|
||
Dutra LA,
|
||
Maciel RH,
|
||
Godeiro-Junior C,
|
||
Chien HF,
|
||
Teive HA,
|
||
Cardoso F,
|
||
Barsottini OG</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2016 Jul;74(7):587-96.
|
||
doi: 10.1590/0004-282X20160080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487380" target="_blank">27487380</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38295533">Dual target deep brain stimulation for complex essential and dystonic tremor - A 5-year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shepherd H,
|
||
Heartshorne R,
|
||
Osman-Farah J,
|
||
Macerollo A</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2024 Feb 15;457:122887.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1016/j.jns.2024.122887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38295533" target="_blank">38295533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651973">Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Otmani H,
|
||
El Moutawakil B,
|
||
Daghi M,
|
||
Fadili O,
|
||
Slassi I,
|
||
El Azhari A,
|
||
Essodegui F,
|
||
Barrou L,
|
||
Rafai MA,
|
||
Lakhdar A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Nov;148:23-27.
|
||
Epub 2023 Aug 9
|
||
doi: 10.1016/j.pediatrneurol.2023.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37651973" target="_blank">37651973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36411289">Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ding H,
|
||
Xu K,
|
||
Wang D,
|
||
Ouyang J,
|
||
Liu Z,
|
||
Liu R</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Nov 21;12(1):19980.
|
||
doi: 10.1038/s41598-022-23156-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36411289" target="_blank">36411289</a><a href="/pmc/articles/PMC9678874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35995355">Long-Term Outcomes of Idiopathic and Acquired Dystonia After Pallidal Deep Brain Stimulation: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tai CH,
|
||
Chou SC,
|
||
Lin CH,
|
||
Lee WT,
|
||
Wu RM,
|
||
Tseng SH</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Nov;167:e575-e582.
|
||
Epub 2022 Aug 19
|
||
doi: 10.1016/j.wneu.2022.08.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35995355" target="_blank">35995355</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38295533">Dual target deep brain stimulation for complex essential and dystonic tremor - A 5-year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shepherd H,
|
||
Heartshorne R,
|
||
Osman-Farah J,
|
||
Macerollo A</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2024 Feb 15;457:122887.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1016/j.jns.2024.122887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38295533" target="_blank">38295533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37999699">Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Decraene B,
|
||
Smeets S,
|
||
Remans D,
|
||
Ortibus E,
|
||
Vandenberghe W,
|
||
Nuttin B,
|
||
Theys T,
|
||
De Vloo P</span><br />
|
||
<span class="medgenPMjournal">Neuromodulation</span>
|
||
2024 Apr;27(3):440-446.
|
||
Epub 2023 Nov 24
|
||
doi: 10.1016/j.neurom.2023.10.187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37999699" target="_blank">37999699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38275596">Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">German A,
|
||
Jukic J,
|
||
Laner A,
|
||
Arnold P,
|
||
Socher E,
|
||
Mennecke A,
|
||
Schmidt MA,
|
||
Winkler J,
|
||
Abicht A,
|
||
Regensburger M</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Dec 20;15(1)
|
||
doi: 10.3390/genes15010014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38275596" target="_blank">38275596</a><a href="/pmc/articles/PMC10815826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36902339">Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eckhardt M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Mar 3;24(5)
|
||
doi: 10.3390/ijms24054908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36902339" target="_blank">36902339</a><a href="/pmc/articles/PMC10002949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36411289">Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ding H,
|
||
Xu K,
|
||
Wang D,
|
||
Ouyang J,
|
||
Liu Z,
|
||
Liu R</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Nov 21;12(1):19980.
|
||
doi: 10.1038/s41598-022-23156-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36411289" target="_blank">36411289</a><a href="/pmc/articles/PMC9678874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37856400">Clinical outcomes after MRI connectivity-guided radiofrequency thalamotomy for tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirth T,
|
||
Goedemans T,
|
||
Rajabian A,
|
||
Dayal V,
|
||
Abuhusain H,
|
||
Vijiaratnam N,
|
||
Athauda D,
|
||
Hariz M,
|
||
Foltynie T,
|
||
Limousin P,
|
||
Akram H,
|
||
Zrinzo L</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2024 Apr 1;140(4):1148-1154.
|
||
Epub 2023 Oct 13
|
||
doi: 10.3171/2023.7.JNS222744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856400" target="_blank">37856400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38275596">Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">German A,
|
||
Jukic J,
|
||
Laner A,
|
||
Arnold P,
|
||
Socher E,
|
||
Mennecke A,
|
||
Schmidt MA,
|
||
Winkler J,
|
||
Abicht A,
|
||
Regensburger M</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Dec 20;15(1)
|
||
doi: 10.3390/genes15010014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38275596" target="_blank">38275596</a><a href="/pmc/articles/PMC10815826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651973">Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Otmani H,
|
||
El Moutawakil B,
|
||
Daghi M,
|
||
Fadili O,
|
||
Slassi I,
|
||
El Azhari A,
|
||
Essodegui F,
|
||
Barrou L,
|
||
Rafai MA,
|
||
Lakhdar A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Nov;148:23-27.
|
||
Epub 2023 Aug 9
|
||
doi: 10.1016/j.pediatrneurol.2023.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37651973" target="_blank">37651973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37420081">Cranial geometry in patients with dystonia and Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujikawa J,
|
||
Morigaki R,
|
||
Miyake K,
|
||
Matsuda T,
|
||
Koyama H,
|
||
Oda T,
|
||
Yamamoto N,
|
||
Izumi Y,
|
||
Mure H,
|
||
Goto S,
|
||
Takagi Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 7;13(1):11003.
|
||
doi: 10.1038/s41598-023-37833-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37420081" target="_blank">37420081</a><a href="/pmc/articles/PMC10328944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
||
Kurian MA,
|
||
Hogarth P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:293-305.
|
||
doi: 10.1016/B978-0-444-63233-3.00019-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%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 (10)</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/37999699">Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Decraene B,
|
||
Smeets S,
|
||
Remans D,
|
||
Ortibus E,
|
||
Vandenberghe W,
|
||
Nuttin B,
|
||
Theys T,
|
||
De Vloo P</span><br />
|
||
<span class="medgenPMjournal">Neuromodulation</span>
|
||
2024 Apr;27(3):440-446.
|
||
Epub 2023 Nov 24
|
||
doi: 10.1016/j.neurom.2023.10.187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37999699" target="_blank">37999699</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20acid%20hydroxylase-associated%20neurodegeneration%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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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 id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C3668943%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3668943%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=329308" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Fatty%20acid%20hydroxylase-associated%20neurodegeneration" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fatty%20acid%20hydroxylase-associated%20neurodegeneration%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></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=Fatty%20acid%20hydroxylase-associated%20neurodegeneration" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10810/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/21735565" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Fatty%20acid%20hydroxylase-associated%20neurodegeneration" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Fatty%20acid%20hydroxylase-associated%20neurodegeneration%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3668943[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3668943[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=777150" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=777150" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=777150" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=777150" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=777150" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=777150" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
|
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<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn On
|
||
</a>
|
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</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2d1472f30673f7bec5e0b">Fatty acid hydroxylase-associated neurodegeneration</a>
|
||
<div class="ralinkpop offscreen_noflow">Fatty acid hydroxylase-associated neurodegeneration<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2d14384f3725e593d483a">Encephalopathy, progressive, with amyotrophy and optic atrophy</a>
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