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<meta name="keywords" content="C0236642, atrophies, lobar (brain), atrophy, lobar (brain), brain atrophy, circumscribed lobar, circumscribed lobar atrophy of the brain, dementia in pick's disease, dementia with lobar atrophy and neuronal cytoplasmic inclusions, disease or syndrome, disease, pick, disease, pick's, lobar atrophies (brain), lobar atrophy (brain), lobar atrophy of brain, lobar atrophy of the brain, mapt, pick disease, pick disease of brain, pick disease of the brain, pick's disease, picks disease, picks disease of brain, psen1, 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="Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=116020
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ConceptID=C0236642
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pick disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116020</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.">C0236642</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>DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS; LOBAR ATROPHY OF BRAIN; Lobar atrophy of the brain; PICK DISEASE OF BRAIN; Pick Disease of the Brain; Pick's disease</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">Genes (locations):<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="MAPT - ID: 4137 - NCBI Gene" href="/gene/4137" class="medgenPMinfo">MAPT</a> (17q21.31); <a target="_blank" title="PSEN1 - ID: 5663 - NCBI Gene" href="/gene/5663" class="medgenPMinfo">PSEN1</a> (14q24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008243" target="_blank">MONDO:0008243</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/172700" target="_blank">172700</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>
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||
<div class="portlet_content ln">Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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<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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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||
<div class="divPopper rprt" id="clin_8532"><div><strong>Echolalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8532</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.">C0013528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8532">Feature record</a> | <a href="/medgen?term=%22Echolalia%22%5BClinical%20Features%5D%20OR%208532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9369"><div><strong>Polyphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9369</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.">C0020505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9369">Feature record</a> | <a href="/medgen?term=%22Polyphagia%22%5BClinical%20Features%5D%20OR%209369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5769"><div><strong>Impulse control disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5769</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.">C0021122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5769">Feature record</a> | <a href="/medgen?term=%22Impulse%20control%20disorder%22%5BClinical%20Features%5D%20OR%205769%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44069"><div><strong>Language disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44069</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.">C0023015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44069">Feature record</a> | <a href="/medgen?term=%22Language%20disorder%22%5BClinical%20Features%5D%20OR%2044069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</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.">C0085632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68571"><div><strong>Emotional dearth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68571</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.">C0233469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The inability to feel or express emotions. It is generally recognized by the person who often complains that they are unable to feel anything; sadness, joy, or contentment are not experienced, rather a sense of nothingness prevails. This may be dimensional, ranging from limited ability to experience emotions to the perceived complete inability to feel emotions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68571">Feature record</a> | <a href="/medgen?term=%22Emotional%20dearth%22%5BClinical%20Features%5D%20OR%2068571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66686"><div><strong>Perseverative thought</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66686</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.">C0233651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repetitive production of the same response to different commands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66686">Feature record</a> | <a href="/medgen?term=%22Perseverative%20thought%22%5BClinical%20Features%5D%20OR%2066686%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66817"><div><strong>Personality changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66817</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.">C0240735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal shift in patterns of thinking, acting, or feeling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66817">Feature record</a> | <a href="/medgen?term=%22Personality%20changes%22%5BClinical%20Features%5D%20OR%2066817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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.">C0338451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Feature record</a> | <a href="/medgen?term=%22Frontotemporal%20dementia%22%5BClinical%20Features%5D%20OR%2083266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98407"><div><strong>Inappropriate laughter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98407</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.">C0424304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98407">Feature record</a> | <a href="/medgen?term=%22Inappropriate%20laughter%22%5BClinical%20Features%5D%20OR%2098407%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96830"><div><strong>Abnormal diminished volition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96830</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.">C0456814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96830">Feature record</a> | <a href="/medgen?term=%22Abnormal%20diminished%20volition%22%5BClinical%20Features%5D%20OR%2096830%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333065"><div><strong>Primitive reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333065</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.">C1838319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333065">Feature record</a> | <a href="/medgen?term=%22Primitive%20reflex%22%5BClinical%20Features%5D%20OR%20333065%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325386"><div><strong>Hyperorality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325386</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.">C1838320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325386">Feature record</a> | <a href="/medgen?term=%22Hyperorality%22%5BClinical%20Features%5D%20OR%20325386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</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.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_96830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal diminished volition</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Echolalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional dearth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperorality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulse control disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inappropriate laughter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Language disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perseverative thought</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Personality changes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primitive reflex</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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236642[DISCUI]&test_type=Clinical" ref="ncbi_uid=116020">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=116020" target="_blank" href="/omim/104311">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=116020" ref="ncbi_uid=116020">V</a></span></span><span class="TLline">Pick disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/224837" ref="tree=MeSH" title="MedGen record for Degenerative disorder">Degenerative disorder</a></span><ul><li><span class="TLline"><a href="/medgen/124363" ref="tree=MeSH" title="MedGen record for Degenerative disease of the central nervous system">Degenerative disease of the central nervous system</a></span><ul><li><span class="matched_ds">Pick disease</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/37069638">Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geberhiwot T,
|
||
Wasserstein M,
|
||
Wanninayake S,
|
||
Bolton SC,
|
||
Dardis A,
|
||
Lehman A,
|
||
Lidove O,
|
||
Dawson C,
|
||
Giugliani R,
|
||
Imrie J,
|
||
Hopkin J,
|
||
Green J,
|
||
de Vicente Corbeira D,
|
||
Madathil S,
|
||
Mengel E,
|
||
Ezgü F,
|
||
Pettazzoni M,
|
||
Sjouke B,
|
||
Hollak C,
|
||
Vanier MT,
|
||
McGovern M,
|
||
Schuchman E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Apr 17;18(1):85.
|
||
doi: 10.1186/s13023-023-02686-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37069638" target="_blank">37069638</a><a href="/pmc/articles/PMC10108815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33675270">Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
||
Maegawa GHB,
|
||
Zhan X,
|
||
Gao X,
|
||
Wang Y,
|
||
Xu F,
|
||
Qiu W,
|
||
Han L,
|
||
Gu X,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 May;42(5):614-625.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1002/humu.24192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33675270" target="_blank">33675270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12369017">The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simonaro CM,
|
||
Desnick RJ,
|
||
McGovern MM,
|
||
Wasserstein MP,
|
||
Schuchman EH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2002 Dec;71(6):1413-9.
|
||
Epub 2002 Oct 4
|
||
doi: 10.1086/345074.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12369017" target="_blank">12369017</a><a href="/pmc/articles/PMC378582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pick%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (82)</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/38294974">Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremova-Ertl T,
|
||
Ramaswami U,
|
||
Brands M,
|
||
Foltan T,
|
||
Gautschi M,
|
||
Gissen P,
|
||
Gowing F,
|
||
Hahn A,
|
||
Jones S,
|
||
Kay R,
|
||
Kolnikova M,
|
||
Arash-Kaps L,
|
||
Marquardt T,
|
||
Mengel E,
|
||
Park JH,
|
||
Reichmannová S,
|
||
Schneider SA,
|
||
Sivananthan S,
|
||
Walterfang M,
|
||
Wibawa P,
|
||
Strupp M,
|
||
Martakis K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 1;390(5):421-431.
|
||
doi: 10.1056/NEJMoa2310151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38294974" target="_blank">38294974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38203300">Lipids as Emerging Biomarkers in Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
|
||
Wong LC,
|
||
Boland S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 21;25(1)
|
||
doi: 10.3390/ijms25010131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38203300" target="_blank">38203300</a><a href="/pmc/articles/PMC10778656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37620072">The tauopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devi G</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;196:251-265.
|
||
doi: 10.1016/B978-0-323-98817-9.00015-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37620072" target="_blank">37620072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36835039">Gene Therapy of Sphingolipid Metabolic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaimardanova AA,
|
||
Solovyeva VV,
|
||
Issa SS,
|
||
Rizvanov AA</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Feb 11;24(4)
|
||
doi: 10.3390/ijms24043627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36835039" target="_blank">36835039</a><a href="/pmc/articles/PMC9964151" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28164782">Types A and B Niemann-Pick disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schuchman EH,
|
||
Desnick RJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Jan-Feb;120(1-2):27-33.
|
||
Epub 2016 Dec 16
|
||
doi: 10.1016/j.ymgme.2016.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28164782" target="_blank">28164782</a><a href="/pmc/articles/PMC5347465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (562)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38294974">Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremova-Ertl T,
|
||
Ramaswami U,
|
||
Brands M,
|
||
Foltan T,
|
||
Gautschi M,
|
||
Gissen P,
|
||
Gowing F,
|
||
Hahn A,
|
||
Jones S,
|
||
Kay R,
|
||
Kolnikova M,
|
||
Arash-Kaps L,
|
||
Marquardt T,
|
||
Mengel E,
|
||
Park JH,
|
||
Reichmannová S,
|
||
Schneider SA,
|
||
Sivananthan S,
|
||
Walterfang M,
|
||
Wibawa P,
|
||
Strupp M,
|
||
Martakis K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 1;390(5):421-431.
|
||
doi: 10.1056/NEJMoa2310151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38294974" target="_blank">38294974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37379561">Frontotemporal dementia: Past, present, and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulugut H,
|
||
Pijnenburg YAL</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2023 Nov;19(11):5253-5263.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1002/alz.13363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37379561" target="_blank">37379561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37003582">The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfrieger FW</span><br />
|
||
<span class="medgenPMjournal">Prog Lipid Res</span>
|
||
2023 Apr;90:101225.
|
||
Epub 2023 Mar 31
|
||
doi: 10.1016/j.plipres.2023.101225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37003582" target="_blank">37003582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4723115">Niemann-Pick disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dacremont G,
|
||
Kint JA,
|
||
Cocquit G</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1973 Sep 13;289(11):592-3.
|
||
doi: 10.1056/nejm197309132891120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4723115" target="_blank">4723115</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (1013)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39715913">Arimoclomol: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keam SJ</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2025 Jan;85(1):111-116.
|
||
Epub 2024 Dec 24
|
||
doi: 10.1007/s40265-024-02129-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39715913" target="_blank">39715913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38294974">Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremova-Ertl T,
|
||
Ramaswami U,
|
||
Brands M,
|
||
Foltan T,
|
||
Gautschi M,
|
||
Gissen P,
|
||
Gowing F,
|
||
Hahn A,
|
||
Jones S,
|
||
Kay R,
|
||
Kolnikova M,
|
||
Arash-Kaps L,
|
||
Marquardt T,
|
||
Mengel E,
|
||
Park JH,
|
||
Reichmannová S,
|
||
Schneider SA,
|
||
Sivananthan S,
|
||
Walterfang M,
|
||
Wibawa P,
|
||
Strupp M,
|
||
Martakis K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 1;390(5):421-431.
|
||
doi: 10.1056/NEJMoa2310151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38294974" target="_blank">38294974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35639287">Olipudase Alfa: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keam SJ</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2022 Jun;82(8):941-947.
|
||
doi: 10.1007/s40265-022-01727-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35639287" target="_blank">35639287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31608980">Niemann-Pick type C disease: cellular pathology and pharmacotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheeler S,
|
||
Sillence DJ</span><br />
|
||
<span class="medgenPMjournal">J Neurochem</span>
|
||
2020 Jun;153(6):674-692.
|
||
Epub 2019 Nov 15
|
||
doi: 10.1111/jnc.14895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31608980" target="_blank">31608980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (316)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38203300">Lipids as Emerging Biomarkers in Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
|
||
Wong LC,
|
||
Boland S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 21;25(1)
|
||
doi: 10.3390/ijms25010131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38203300" target="_blank">38203300</a><a href="/pmc/articles/PMC10778656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37620072">The tauopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devi G</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;196:251-265.
|
||
doi: 10.1016/B978-0-323-98817-9.00015-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37620072" target="_blank">37620072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37379561">Frontotemporal dementia: Past, present, and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulugut H,
|
||
Pijnenburg YAL</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2023 Nov;19(11):5253-5263.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1002/alz.13363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37379561" target="_blank">37379561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069540">Lysosomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wraith JE</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):75-83.
|
||
doi: 10.1053/siny.2001.0088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069540" target="_blank">12069540</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (334)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38294974">Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremova-Ertl T,
|
||
Ramaswami U,
|
||
Brands M,
|
||
Foltan T,
|
||
Gautschi M,
|
||
Gissen P,
|
||
Gowing F,
|
||
Hahn A,
|
||
Jones S,
|
||
Kay R,
|
||
Kolnikova M,
|
||
Arash-Kaps L,
|
||
Marquardt T,
|
||
Mengel E,
|
||
Park JH,
|
||
Reichmannová S,
|
||
Schneider SA,
|
||
Sivananthan S,
|
||
Walterfang M,
|
||
Wibawa P,
|
||
Strupp M,
|
||
Martakis K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 1;390(5):421-431.
|
||
doi: 10.1056/NEJMoa2310151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38294974" target="_blank">38294974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38203300">Lipids as Emerging Biomarkers in Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
|
||
Wong LC,
|
||
Boland S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 21;25(1)
|
||
doi: 10.3390/ijms25010131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38203300" target="_blank">38203300</a><a href="/pmc/articles/PMC10778656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37379561">Frontotemporal dementia: Past, present, and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulugut H,
|
||
Pijnenburg YAL</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2023 Nov;19(11):5253-5263.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1002/alz.13363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37379561" target="_blank">37379561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35190686">Saturation variant interpretation using CRISPR prime editing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erwood S,
|
||
Bily TMI,
|
||
Lequyer J,
|
||
Yan J,
|
||
Gulati N,
|
||
Brewer RA,
|
||
Zhou L,
|
||
Pelletier L,
|
||
Ivakine EA,
|
||
Cohn RD</span><br />
|
||
<span class="medgenPMjournal">Nat Biotechnol</span>
|
||
2022 Jun;40(6):885-895.
|
||
Epub 2022 Feb 21
|
||
doi: 10.1038/s41587-021-01201-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35190686" target="_blank">35190686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (643)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37987326">Occupational Therapy Interventions in Patients with Frontotemporal Dementia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlotinou P,
|
||
Tsiakiri A,
|
||
Detsaridou G,
|
||
Nikova A,
|
||
Tsiptsios D,
|
||
Vadikolias K,
|
||
Aggelousis N</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2023 Nov 6;11(4)
|
||
doi: 10.3390/medsci11040071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37987326" target="_blank">37987326</a><a href="/pmc/articles/PMC10660551" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34021815">Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maresca G,
|
||
Formica C,
|
||
Nocito V,
|
||
Latella D,
|
||
Leonardi S,
|
||
De Cola MC,
|
||
Triglia G,
|
||
Bramanti P,
|
||
Corallo F</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 Aug;42(8):3167-3175.
|
||
Epub 2021 May 22
|
||
doi: 10.1007/s10072-021-05337-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34021815" target="_blank">34021815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29457916">Systematic review of psychiatric signs in Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnot O,
|
||
Klünemann HH,
|
||
Velten C,
|
||
Torres Martin JV,
|
||
Walterfang M</span><br />
|
||
<span class="medgenPMjournal">World J Biol Psychiatry</span>
|
||
2019 Apr;20(4):320-332.
|
||
Epub 2018 Mar 12
|
||
doi: 10.1080/15622975.2018.1441548.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29457916" target="_blank">29457916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23039766">Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walterfang M,
|
||
Chien YH,
|
||
Imrie J,
|
||
Rushton D,
|
||
Schubiger D,
|
||
Patterson MC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 6;7:76.
|
||
doi: 10.1186/1750-1172-7-76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23039766" target="_blank">23039766</a><a href="/pmc/articles/PMC3552828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12804440">Propentofylline for dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frampton M,
|
||
Harvey RJ,
|
||
Kirchner V</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2003;(2):CD002853.
|
||
doi: 10.1002/14651858.CD002853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12804440" target="_blank">12804440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pick%20disease%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 (10)</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=C0236642%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0236642%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0236642%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C0236642%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0236642%5bDISCUI%5d" target="_blank">See all (35)</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=172700" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pick%20disease" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pick%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Pick%20disease%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=104311%20157140" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4137[geneid]" target="_blank">View MAPT variations in ClinVar</a></li><li><a href="/clinvar/?term=5663[geneid]" target="_blank">View PSEN1 variations in ClinVar</a></li><li><a href="/nuccore/167830493,213511787" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=172700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pick+disease+of+the+brain/5741" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pick_disease_of_brain" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pick%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7392/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Pick%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Pick%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=116020" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=116020" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0236642[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0236642[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=116020" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=116020" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=116020" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=116020" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=116020" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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