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<meta name="keywords" content="C3539123, ceroid lipofuscinosis, neuronal, 11, ceroid lipofuscinosis, neuronal, type 11, cln11, cln11 disease, disease or syndrome, grn, grn neuronal ceroid lipofuscinosis, grn-related neuronal ceroid-lipofuscinosis, neuronal ceroid lipofuscinosis 11, neuronal ceroid lipofuscinosis caused by mutation in grn, neuronal ceroid lipofuscinosis type 11, 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="Neuronal ceroid lipofuscinosis-11 (CLN11) is an autosomal recessive progressive neurodegenerative disorder characterized by seizures (often refractory), progressive cerebellar ataxia and gait abnormalities, cognitive decline particularly affecting executive function, and behavioral abnormalities. The age at onset is variable, ranging from midchildhood to the second or third decades. Most patients have progressive visual loss with retinal abnormalities and cataracts; visual hallucinations may occur and many patients are photosensitive. The severity of the disorder is variable, but it is progressive and can lead to severe disability with blindness, loss of ambulation, and severe cognitive impairment (Huin et al., 2020; Neuray et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=761331
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ConceptID=C3539123
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neuronal ceroid lipofuscinosis 11<span class="h1sub">(CLN11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761331</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:">C3539123</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CLN11 Disease; GRN-Related Neuronal Ceroid-Lipofuscinosis</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GRN - ID: 2896 - NCBI Gene" href="/gene/2896" class="medgenPMinfo">GRN</a> (17q21.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013866" target="_blank">MONDO:0013866</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614706" target="_blank">614706</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=314629">ORPHA314629</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Neuronal ceroid lipofuscinosis-11 (CLN11) is an autosomal recessive progressive neurodegenerative disorder characterized by seizures (often refractory), progressive cerebellar ataxia and gait abnormalities, cognitive decline particularly affecting executive function, and behavioral abnormalities. The age at onset is variable, ranging from midchildhood to the second or third decades. Most patients have progressive visual loss with retinal abnormalities and cataracts; visual hallucinations may occur and many patients are photosensitive. The severity of the disorder is variable, but it is progressive and can lead to severe disability with blindness, loss of ambulation, and severe cognitive impairment (Huin et al., 2020; Neuray et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_117">
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||
<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 MedlinePlus Genetics</strong><br />CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.<br /><br />Seizures in CLN11 disease often involve a loss of consciousness, muscle stiffness (rigidity), and generalized convulsions (tonic-clonic seizures).<br /><br />Vision loss is gradual over time and is due to a condition called retinitis pigmentosa, which is caused by the breakdown of the light-sensitive layer at the back of the eye (retina). People with CLN11 disease can also develop clouding of the lenses of the eyes (cataracts) and rapid, involuntary eye movements (nystagmus).<br /><br />Affected individuals can also develop muscle twitches (myoclonus), walking problems and falling (gait disturbance), and impaired speech (dysarthria). Over time, people with CLN11 disease develop short-term memory loss and loss of executive function, which is the ability to plan and implement problem-solving strategies and actions. They may also become irritable and impulsive. Some affected individuals experience visual hallucinations involving people or animals.<br /><br />CLN11 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). All of these disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cln11-disease">https://medlineplus.gov/genetics/condition/cln11-disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868685"><div><strong>EEG with generalized polyspikes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868685</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.">C4023088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868685">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20generalized%20polyspikes%22%5BClinical%20Features%5D%20OR%20868685%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208903"><div><strong>Retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</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.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with generalized polyspikes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></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><li><a href="#tabORDO">Orphanet</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=C0022797[DISCUI]&test_type=Clinical" ref="ncbi_uid=7230">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=7230" ref="ncbi_uid=7230">V</a></span></span><span class="TLline"><a href="/medgen/7230" ref="tree=GTR&ncbi_uid=7230&link_uid=7230" title="View MedGen record for 'Adult neuronal ceroid lipofuscinosis'">Adult neuronal ceroid lipofuscinosis</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=C1834207[DISCUI]&test_type=Clinical" ref="ncbi_uid=320287">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=320287" target="_blank" href="/omim/162350">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=320287" ref="ncbi_uid=320287">V</a></span></span><span class="TLline"><a href="/medgen/320287" ref="tree=GTR&ncbi_uid=320287&link_uid=320287" title="View MedGen record for 'Ceroid lipofuscinosis, neuronal, 4 (Kufs type)'">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</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=C5561927[DISCUI]&test_type=Clinical" ref="ncbi_uid=1794137">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794137" target="_blank" href="/omim/204300">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=1794137" ref="ncbi_uid=1794137">V</a></span></span><span class="TLline"><a href="/medgen/1794137" ref="tree=GTR&ncbi_uid=1794137&link_uid=1794137" title="View MedGen record for 'Ceroid lipofuscinosis, neuronal, 6B (Kufs type)'">Ceroid lipofuscinosis, neuronal, 6B (Kufs type)</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=C1850451[DISCUI]&test_type=Clinical" ref="ncbi_uid=340540">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340540" target="_blank" href="/omim/256730">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=340540" ref="ncbi_uid=340540">V</a></span></span><span class="TLline"><a href="/medgen/340540" ref="tree=GTR&ncbi_uid=340540&link_uid=340540" title="View MedGen record for 'Neuronal ceroid lipofuscinosis 1'">Neuronal ceroid lipofuscinosis 1</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=C0268281[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=75666">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75666" target="_blank" href="/omim/256730">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/75666" ref="tree=GTR&ncbi_uid=75666&link_uid=75666" title="View MedGen record for 'Infantile neuronal ceroid lipofuscinosis'">Infantile neuronal ceroid lipofuscinosis</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=C1864669[DISCUI]&test_type=Clinical" ref="ncbi_uid=350481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350481" target="_blank" href="/omim/116840">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=350481" ref="ncbi_uid=350481">V</a></span></span><span class="TLline"><a href="/medgen/350481" ref="tree=GTR&ncbi_uid=350481&link_uid=350481" title="View MedGen record for 'Neuronal ceroid lipofuscinosis 10'">Neuronal ceroid lipofuscinosis 10</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=C3539123[DISCUI]&test_type=Clinical" ref="ncbi_uid=761331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761331" target="_blank" href="/omim/138945">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=761331" ref="ncbi_uid=761331">V</a></span></span><span class="TLline">Neuronal ceroid lipofuscinosis 11</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3715049[DISCUI]&test_type=Clinical" ref="ncbi_uid=811566">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811566" target="_blank" href="/omim/603539">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=811566" ref="ncbi_uid=811566">V</a></span></span><span class="TLline"><a href="/medgen/811566" ref="tree=GTR&ncbi_uid=811566&link_uid=811566" title="View MedGen record for 'Neuronal ceroid lipofuscinosis 13'">Neuronal ceroid lipofuscinosis 13</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/1825994" ref="tree=MeSH" title="MedGen record for Cerebral lipidosis with dementia">Cerebral lipidosis with dementia</a></span><ul><li><span class="TLline"><a href="/medgen/7230" ref="tree=MeSH" title="MedGen record for Adult neuronal ceroid lipofuscinosis">Adult neuronal ceroid lipofuscinosis</a></span><ul><li><span class="matched_ds">Neuronal ceroid lipofuscinosis 11</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21505&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Neuronal ceroid lipofuscinosis 11</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35045884">Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mortensen A,
|
||
Raebel EM,
|
||
Wiseman S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jan 19;17(1):19.
|
||
doi: 10.1186/s13023-021-02147-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35045884" target="_blank">35045884</a><a href="/pmc/articles/PMC8767529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33356800">Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wibbeler E,
|
||
Wang R,
|
||
Reyes EL,
|
||
Specchio N,
|
||
Gissen P,
|
||
Guelbert N,
|
||
Nickel M,
|
||
Schwering C,
|
||
Lehwald L,
|
||
Trivisano M,
|
||
Lee L,
|
||
Amato G,
|
||
Cohen-Pfeffer J,
|
||
Shediac R,
|
||
Leal-Pardinas F,
|
||
Schulz A</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2021 May;36(6):468-474.
|
||
Epub 2020 Dec 23
|
||
doi: 10.1177/0883073820977997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33356800" target="_blank">33356800</a><a href="/pmc/articles/PMC8027928" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23131032">Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sondhi D,
|
||
Johnson L,
|
||
Purpura K,
|
||
Monette S,
|
||
Souweidane MM,
|
||
Kaplitt MG,
|
||
Kosofsky B,
|
||
Yohay K,
|
||
Ballon D,
|
||
Dyke J,
|
||
Kaminksy SM,
|
||
Hackett NR,
|
||
Crystal RG</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther Methods</span>
|
||
2012 Oct;23(5):324-35.
|
||
Epub 2012 Nov 6
|
||
doi: 10.1089/hgtb.2012.120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23131032" target="_blank">23131032</a><a href="/pmc/articles/PMC3847998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neuronal%20ceroid%20lipofuscinosis%2011)%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 (5)</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/39394881">Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nóbrega PR,
|
||
Paiva ARB,
|
||
Amorim Junior AD,
|
||
Lima PLGSB,
|
||
Cabral KSS,
|
||
Barcelos IP,
|
||
Pessoa ALS,
|
||
Souza-Lima CFL,
|
||
Castro MAA,
|
||
Freua F,
|
||
Santos ES,
|
||
Rocha MMV,
|
||
Maia RE,
|
||
Araújo RS,
|
||
Ramos JDG,
|
||
Resende RG,
|
||
Carvalho GDS,
|
||
Valença LPA,
|
||
Lima de Carvalho JR Jr,
|
||
Melo ES,
|
||
Pedroso JL,
|
||
Barsottini OGP,
|
||
Houlden H,
|
||
Kok F,
|
||
Lynch DS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2025 Jan;27(1):101291.
|
||
Epub 2024 Oct 9
|
||
doi: 10.1016/j.gim.2024.101291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39394881" target="_blank">39394881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37003407">Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khrouf W,
|
||
Saracino D,
|
||
Rucheton B,
|
||
Houot M,
|
||
Clot F,
|
||
Rinaldi D,
|
||
Vitor J,
|
||
Huynh M,
|
||
Heng E,
|
||
Schlemmer D,
|
||
Pasquier F,
|
||
Deramecourt V,
|
||
Auriacombe S,
|
||
Azuar C,
|
||
Levy R,
|
||
Bombois S,
|
||
Boutoleau-Brétonnière C,
|
||
Pariente J,
|
||
Didic M,
|
||
Wallon D,
|
||
Fluchère F,
|
||
Auvin S,
|
||
Younes IB;
|
||
French clinical and genetic research network on FTD/FTD-ALS;
|
||
Predict-PGRN study group,
|
||
Nadjar Y,
|
||
Brice A,
|
||
Dubois B,
|
||
Bonnefont-Rousselot D,
|
||
Le Ber I,
|
||
Lamari F</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2023 Jun 1;181:106108.
|
||
Epub 2023 Mar 30
|
||
doi: 10.1016/j.nbd.2023.106108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37003407" target="_blank">37003407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31855245">Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huin V,
|
||
Barbier M,
|
||
Bottani A,
|
||
Lobrinus JA,
|
||
Clot F,
|
||
Lamari F,
|
||
Chat L,
|
||
Rucheton B,
|
||
Fluchère F,
|
||
Auvin S,
|
||
Myers P,
|
||
Gelot A,
|
||
Camuzat A,
|
||
Caillaud C,
|
||
Jornéa L,
|
||
Forlani S,
|
||
Saracino D,
|
||
Duyckaerts C,
|
||
Brice A,
|
||
Durr A,
|
||
Le Ber I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jan 1;143(1):303-319.
|
||
doi: 10.1093/brain/awz377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31855245" target="_blank">31855245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuronal%20ceroid%20lipofuscinosis%2011%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39812704">Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maximiano-Alves G,
|
||
do Amaral Moreto Caravelas R,
|
||
Gonçalves TAP,
|
||
Corniani KF,
|
||
Nather JC,
|
||
Geraldi-Tomaselli CV,
|
||
Frezatti RSS,
|
||
Fernandes RMF,
|
||
Dos Santos AC,
|
||
Marques W,
|
||
Tomaselli PJ</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2025 Jan 15;26(1):20.
|
||
doi: 10.1007/s10048-025-00800-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39812704" target="_blank">39812704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39394881">Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nóbrega PR,
|
||
Paiva ARB,
|
||
Amorim Junior AD,
|
||
Lima PLGSB,
|
||
Cabral KSS,
|
||
Barcelos IP,
|
||
Pessoa ALS,
|
||
Souza-Lima CFL,
|
||
Castro MAA,
|
||
Freua F,
|
||
Santos ES,
|
||
Rocha MMV,
|
||
Maia RE,
|
||
Araújo RS,
|
||
Ramos JDG,
|
||
Resende RG,
|
||
Carvalho GDS,
|
||
Valença LPA,
|
||
Lima de Carvalho JR Jr,
|
||
Melo ES,
|
||
Pedroso JL,
|
||
Barsottini OGP,
|
||
Houlden H,
|
||
Kok F,
|
||
Lynch DS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2025 Jan;27(1):101291.
|
||
Epub 2024 Oct 9
|
||
doi: 10.1016/j.gim.2024.101291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39394881" target="_blank">39394881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31855245">Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huin V,
|
||
Barbier M,
|
||
Bottani A,
|
||
Lobrinus JA,
|
||
Clot F,
|
||
Lamari F,
|
||
Chat L,
|
||
Rucheton B,
|
||
Fluchère F,
|
||
Auvin S,
|
||
Myers P,
|
||
Gelot A,
|
||
Camuzat A,
|
||
Caillaud C,
|
||
Jornéa L,
|
||
Forlani S,
|
||
Saracino D,
|
||
Duyckaerts C,
|
||
Brice A,
|
||
Durr A,
|
||
Le Ber I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jan 1;143(1):303-319.
|
||
doi: 10.1093/brain/awz377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31855245" target="_blank">31855245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuronal%20ceroid%20lipofuscinosis%2011%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37003407">Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khrouf W,
|
||
Saracino D,
|
||
Rucheton B,
|
||
Houot M,
|
||
Clot F,
|
||
Rinaldi D,
|
||
Vitor J,
|
||
Huynh M,
|
||
Heng E,
|
||
Schlemmer D,
|
||
Pasquier F,
|
||
Deramecourt V,
|
||
Auriacombe S,
|
||
Azuar C,
|
||
Levy R,
|
||
Bombois S,
|
||
Boutoleau-Brétonnière C,
|
||
Pariente J,
|
||
Didic M,
|
||
Wallon D,
|
||
Fluchère F,
|
||
Auvin S,
|
||
Younes IB;
|
||
French clinical and genetic research network on FTD/FTD-ALS;
|
||
Predict-PGRN study group,
|
||
Nadjar Y,
|
||
Brice A,
|
||
Dubois B,
|
||
Bonnefont-Rousselot D,
|
||
Le Ber I,
|
||
Lamari F</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2023 Jun 1;181:106108.
|
||
Epub 2023 Mar 30
|
||
doi: 10.1016/j.nbd.2023.106108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37003407" target="_blank">37003407</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuronal%20ceroid%20lipofuscinosis%2011%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39394881">Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nóbrega PR,
|
||
Paiva ARB,
|
||
Amorim Junior AD,
|
||
Lima PLGSB,
|
||
Cabral KSS,
|
||
Barcelos IP,
|
||
Pessoa ALS,
|
||
Souza-Lima CFL,
|
||
Castro MAA,
|
||
Freua F,
|
||
Santos ES,
|
||
Rocha MMV,
|
||
Maia RE,
|
||
Araújo RS,
|
||
Ramos JDG,
|
||
Resende RG,
|
||
Carvalho GDS,
|
||
Valença LPA,
|
||
Lima de Carvalho JR Jr,
|
||
Melo ES,
|
||
Pedroso JL,
|
||
Barsottini OGP,
|
||
Houlden H,
|
||
Kok F,
|
||
Lynch DS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2025 Jan;27(1):101291.
|
||
Epub 2024 Oct 9
|
||
doi: 10.1016/j.gim.2024.101291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39394881" target="_blank">39394881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31855245">Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huin V,
|
||
Barbier M,
|
||
Bottani A,
|
||
Lobrinus JA,
|
||
Clot F,
|
||
Lamari F,
|
||
Chat L,
|
||
Rucheton B,
|
||
Fluchère F,
|
||
Auvin S,
|
||
Myers P,
|
||
Gelot A,
|
||
Camuzat A,
|
||
Caillaud C,
|
||
Jornéa L,
|
||
Forlani S,
|
||
Saracino D,
|
||
Duyckaerts C,
|
||
Brice A,
|
||
Durr A,
|
||
Le Ber I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jan 1;143(1):303-319.
|
||
doi: 10.1093/brain/awz377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31855245" target="_blank">31855245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuronal%20ceroid%20lipofuscinosis%2011%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 (2)</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">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3539123%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C3539123%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C3539123%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3539123%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614706" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=314629" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neuronal%20ceroid%20lipofuscinosis%2011" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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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