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<meta name="keywords" content="C1834207, adult neuronal ceroid lipofuscinosis 4b, autosomal dominant kufs disease, autosomal dominant neuronal ceroid lipofuscinosis 4b, ceroid lipofuscinosis neuronal parry type, ceroid lipofuscinosis, neuronal, 4 (kufs type), ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant, ceroid lipofuscinosis, neuronal, 4, parry type, ceroid lipofuscinosis, neuronal, 4b, autosomal dominant, ceroid lipofuscinosis, neuronal, parry type, cln4, cln4b, cln4b disease, disease or syndrome, dnajc5, dominant form of adult neuronal ceroid-lipofuscinosis, kuf's disease type b, kuf's disease, autosomal dominant, kufs disease autosomal dominant, kufs disease, autosomal dominant, neuronal ceroid lipofuscinosis 4 parry type, neuronal ceroid lipofuscinosis 4b, neuronal ceroid lipofuscinosis type 4b, neuronal ceroid lipofuscinosis, parry type, 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-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). 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=320287
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ConceptID=C1834207
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)<span class="h1sub">(CLN4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320287</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:">C1834207</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>Ceroid lipofuscinosis neuronal Parry type; Ceroid lipofuscinosis, neuronal, 4, Parry type; CLN4; Dominant form of adult neuronal ceroid-lipofuscinosis; Kufs disease autosomal dominant; Neuronal ceroid lipofuscinosis 4B</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant 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="DNAJC5 - ID: 80331 - NCBI Gene" href="/gene/80331" class="medgenPMinfo">DNAJC5</a> (20q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008083" target="_blank">MONDO:0008083</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/162350" target="_blank">162350</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=228343">ORPHA228343</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_100">
|
||
<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-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). 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>
|
||
|
||
<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 MedlinePlus Genetics</strong><br />CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.<br /><br />People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.<br /><br />CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs affect the nervous system and typically cause worsening 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/cln4-disease">https://medlineplus.gov/genetics/condition/cln4-disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_348472"><div><strong>Vascular granular osmiophilic material deposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348472</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.">C1859833</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348472">Feature record</a> | <a href="/medgen?term=%22Vascular%20granular%20osmiophilic%20material%20deposition%22%5BClinical%20Features%5D%20OR%20348472%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%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_115932"><div><strong>Auditory hallucination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115932</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.">C0233762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perception of sounds without auditory stimulus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115932">Feature record</a> | <a href="/medgen?term=%22Auditory%20hallucination%22%5BClinical%20Features%5D%20OR%20115932%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66688"><div><strong>Visual hallucination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66688</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.">C0233763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual perception in the absence of a visual stimulus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66688">Feature record</a> | <a href="/medgen?term=%22Visual%20hallucination%22%5BClinical%20Features%5D%20OR%2066688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115941"><div><strong>Abnormality of extrapyramidal motor function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115941</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.">C0234133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115941">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20extrapyramidal%20motor%20function%22%5BClinical%20Features%5D%20OR%20115941%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400925"><div><strong>Abnormal cerebellum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400925</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.">C1866129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural abnormality of the cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400925">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebellum%20morphology%22%5BClinical%20Features%5D%20OR%20400925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892355"><div><strong>Increased neuronal autofluorescent lipopigment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892355</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.">C4025728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892355">Feature record</a> | <a href="/medgen?term=%22Increased%20neuronal%20autofluorescent%20lipopigment%22%5BClinical%20Features%5D%20OR%20892355%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by 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/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324619"><div><strong>Fingerprint intracellular accumulation of autofluorescent lipopigment storage material</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324619</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.">C1836851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324619">Feature record</a> | <a href="/medgen?term=%22Fingerprint%20intracellular%20accumulation%20of%20autofluorescent%20lipopigment%20storage%20material%22%5BClinical%20Features%5D%20OR%20324619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323011"><div><strong>Curvilinear intracellular accumulation of autofluorescent lipopigment storage material</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323011</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.">C1836852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323011">Feature record</a> | <a href="/medgen?term=%22Curvilinear%20intracellular%20accumulation%20of%20autofluorescent%20lipopigment%20storage%20material%22%5BClinical%20Features%5D%20OR%20323011%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338055"><div><strong>Rectilinear intracellular accumulation of autofluorescent lipopigment storage material</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338055</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.">C1850447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338055">Feature record</a> | <a href="/medgen?term=%22Rectilinear%20intracellular%20accumulation%20of%20autofluorescent%20lipopigment%20storage%20material%22%5BClinical%20Features%5D%20OR%20338055%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Curvilinear intracellular accumulation of autofluorescent lipopigment storage material</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fingerprint intracellular accumulation of autofluorescent lipopigment storage material</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rectilinear intracellular accumulation of autofluorescent lipopigment storage material</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_348472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular granular osmiophilic material deposition</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_400925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebellum morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of extrapyramidal motor function</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auditory hallucination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><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_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased neuronal autofluorescent lipopigment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual hallucination</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="matched_ds"><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">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</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="TLclosed"><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"><a href="/medgen/761331" ref="tree=GTR&ncbi_uid=761331&link_uid=761331" title="View MedGen record for 'Neuronal ceroid lipofuscinosis 11'">Neuronal ceroid lipofuscinosis 11</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=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">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</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=19108&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</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/35505348">Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rus CM,
|
||
Weissensteiner T,
|
||
Pereira C,
|
||
Susnea I,
|
||
Danquah BD,
|
||
Morales Torres G,
|
||
Rocha ME,
|
||
Cozma C,
|
||
Saravanakumar D,
|
||
Mannepalli S,
|
||
Kandaswamy KK,
|
||
Di Bucchianico S,
|
||
Zimmermann R,
|
||
Rolfs A,
|
||
Bauer P,
|
||
Beetz C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 May 3;17(1):179.
|
||
doi: 10.1186/s13023-022-02288-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35505348" target="_blank">35505348</a><a href="/pmc/articles/PMC9066917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(kufs%20type))%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/38397161">Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmern V,
|
||
Minassian B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Jan 27;15(2)
|
||
doi: 10.3390/genes15020171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38397161" target="_blank">38397161</a><a href="/pmc/articles/PMC10888128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34106804">Ocular Manifestations of Neuronal Ceroid Lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh RB,
|
||
Gupta P,
|
||
Kartik A,
|
||
Farooqui N,
|
||
Singhal S,
|
||
Shergill S,
|
||
Singh KP,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2021 Oct 3;36(7):582-595.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1080/08820538.2021.1936571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34106804" target="_blank">34106804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30783219">Therapeutic landscape for Batten disease: current treatments and future prospects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson TB,
|
||
Cain JT,
|
||
White KA,
|
||
Ramirez-Montealegre D,
|
||
Pearce DA,
|
||
Weimer JM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Mar;15(3):161-178.
|
||
doi: 10.1038/s41582-019-0138-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30783219" target="_blank">30783219</a><a href="/pmc/articles/PMC6681450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28390949">NCLs and ER: A stressful relationship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marotta D,
|
||
Tinelli E,
|
||
Mole SE</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2017 Jun;1863(6):1273-1281.
|
||
Epub 2017 Apr 6
|
||
doi: 10.1016/j.bbadis.2017.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28390949" target="_blank">28390949</a><a href="/pmc/articles/PMC5479446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622391">Neuronal ceroid lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chabrol B,
|
||
Caillaud C,
|
||
Minassian B</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1701-6.
|
||
doi: 10.1016/B978-0-444-59565-2.00038-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622391" target="_blank">23622391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%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 (501)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34106804">Ocular Manifestations of Neuronal Ceroid Lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh RB,
|
||
Gupta P,
|
||
Kartik A,
|
||
Farooqui N,
|
||
Singhal S,
|
||
Shergill S,
|
||
Singh KP,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2021 Oct 3;36(7):582-595.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1080/08820538.2021.1936571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34106804" target="_blank">34106804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31597037">Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim J,
|
||
Hu C,
|
||
Moufawad El Achkar C,
|
||
Black LE,
|
||
Douville J,
|
||
Larson A,
|
||
Pendergast MK,
|
||
Goldkind SF,
|
||
Lee EA,
|
||
Kuniholm A,
|
||
Soucy A,
|
||
Vaze J,
|
||
Belur NR,
|
||
Fredriksen K,
|
||
Stojkovska I,
|
||
Tsytsykova A,
|
||
Armant M,
|
||
DiDonato RL,
|
||
Choi J,
|
||
Cornelissen L,
|
||
Pereira LM,
|
||
Augustine EF,
|
||
Genetti CA,
|
||
Dies K,
|
||
Barton B,
|
||
Williams L,
|
||
Goodlett BD,
|
||
Riley BL,
|
||
Pasternak A,
|
||
Berry ER,
|
||
Pflock KA,
|
||
Chu S,
|
||
Reed C,
|
||
Tyndall K,
|
||
Agrawal PB,
|
||
Beggs AH,
|
||
Grant PE,
|
||
Urion DK,
|
||
Snyder RO,
|
||
Waisbren SE,
|
||
Poduri A,
|
||
Park PJ,
|
||
Patterson A,
|
||
Biffi A,
|
||
Mazzulli JR,
|
||
Bodamer O,
|
||
Berde CB,
|
||
Yu TW</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Oct 24;381(17):1644-1652.
|
||
Epub 2019 Oct 9
|
||
doi: 10.1056/NEJMoa1813279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31597037" target="_blank">31597037</a><a href="/pmc/articles/PMC6961983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30783219">Therapeutic landscape for Batten disease: current treatments and future prospects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson TB,
|
||
Cain JT,
|
||
White KA,
|
||
Ramirez-Montealegre D,
|
||
Pearce DA,
|
||
Weimer JM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Mar;15(3):161-178.
|
||
doi: 10.1038/s41582-019-0138-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30783219" target="_blank">30783219</a><a href="/pmc/articles/PMC6681450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622391">Neuronal ceroid lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chabrol B,
|
||
Caillaud C,
|
||
Minassian B</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1701-6.
|
||
doi: 10.1016/B978-0-444-59565-2.00038-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622391" target="_blank">23622391</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15337405">Neuronal lipofuscinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auvin S,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/31597037">Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conry JA</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Aberg L,
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Heiskala H,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%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 (168)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31926264">Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cooper JD,
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Mole SE</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
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Valetto A,
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2019 Oct;71:247-257.
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<div class="nl"><a target="_blank" href="/pubmed/23383614">Storage diseases: diagnostic position.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
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Müller HD</span><br />
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<span class="medgenPMjournal">Ultrastruct Pathol</span>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conry JA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/11918469" target="_blank">11918469</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%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 (295)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38447580">Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nyame K,
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Hims A,
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Aburous A,
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Laqtom NN,
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Dong W,
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Heiby JC,
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Xiong J,
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Ori A,
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|
||
<div class="nl"><a target="_blank" href="/pubmed/38101904">Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schulz A,
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Specchio N,
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de Los Reyes E,
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Gissen P,
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Nickel M,
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Trivisano M,
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Aylward SC,
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Chakrapani A,
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Schwering C,
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Wibbeler E,
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Westermann LM,
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Ballon DJ,
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Dyke JP,
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Cherukuri A,
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Bondade S,
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Slasor P,
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Cohen Pfeffer J</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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doi: 10.1016/S1474-4422(23)00384-8.
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<span class="bold">PMID: </span><a href="/pubmed/38101904" target="_blank">38101904</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31863828">Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rietdorf K,
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Coode EE,
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Schulz A,
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Wibbeler E,
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Ostergaard JR</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31863828" target="_blank">31863828</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23383614">Storage diseases: diagnostic position.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
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Müller HD</span><br />
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<span class="medgenPMjournal">Ultrastruct Pathol</span>
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2013 Feb;37(1):19-22.
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<span class="bold">PMID: </span><a href="/pubmed/23383614" target="_blank">23383614</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21990111">Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%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 (379)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/33882967">Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mole SE,
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Schulz A,
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Badoe E,
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Berkovic SF,
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de Los Reyes EC,
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Dulz S,
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Gissen P,
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Guelbert N,
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Lourenco CM,
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Mason HL,
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Mink JW,
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Murphy N,
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Nickel M,
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Olaya JE,
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Scarpa M,
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Scheffer IE,
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Simonati A,
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Specchio N,
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Von Löbbecke I,
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Wang RY,
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Williams RE</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2021 Apr 21;16(1):185.
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<span class="bold">PMID: </span><a href="/pubmed/33882967" target="_blank">33882967</a><a href="/pmc/articles/PMC8059011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31059981">Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZR,
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Liu DT,
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Meng H,
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Liu L,
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Bian WJ,
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Liu XR,
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Zhu WW,
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He Y,
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Wang J,
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Tang B,
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Su T,
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Yi YH</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2019 Jul;69:180-185.
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Epub 2018 Sep 2
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<span class="bold">PMID: </span><a href="/pubmed/31059981" target="_blank">31059981</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/30919163">The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Parvin S,
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Rezazadeh M,
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Hosseinzadeh H,
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Moradi M,
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Shiva S,
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Gharesouran J</span><br />
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<span class="medgenPMjournal">Neuromolecular Med</span>
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2019 Jun;21(2):160-169.
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||
Epub 2019 Mar 27
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||
doi: 10.1007/s12017-019-08529-7.
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||
<span class="bold">PMID: </span><a href="/pubmed/30919163" target="_blank">30919163</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ysselstein D,
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Shulman JM,
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Krainc D</span><br />
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<span class="medgenPMjournal">Mov Disord</span>
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2019 May;34(5):614-624.
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||
Epub 2019 Feb 6
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||
doi: 10.1002/mds.27631.
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<span class="bold">PMID: </span><a href="/pubmed/30726573" target="_blank">30726573</a><a href="/pmc/articles/PMC6520126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29392585">Timing of cognitive decline in CLN3 disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kuper WFE,
|
||
van Alfen C,
|
||
Rigterink RH,
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Fuchs SA,
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van Genderen MM,
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van Hasselt PM</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2018 Mar;41(2):257-261.
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||
<span class="bold">PMID: </span><a href="/pubmed/29392585" target="_blank">29392585</a><a href="/pmc/articles/PMC5830481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%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 (6)</a></div></div>
|
||
</div>
|
||
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|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
||
|
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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_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=C1834207%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834207%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834207%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834207%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834207%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834207%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1834207%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
|
||
</ul></div>
|
||
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|
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<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=162350" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=228343" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ceroid%20lipofuscinosis,%20neuronal,%204%20(Kufs%20type)" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(kufs%20type))%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Ceroid%20lipofuscinosis%2C%20neuronal%2C%204%20(Kufs%20type)%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4ade84f3725e590ff183">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a>
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