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<meta name="keywords" content="C2751536, amyloidosis, cerebroarterial, app-related, amyloidosis, hereditary, with cerebral hemorrhage, dutch variant, app, app-related cerebral amyloid angiopathy, cerebral amyloid angiopathy, app-related, cerebral amyloid angiopathy, app-related, arctic variant, cerebral amyloid angiopathy, app-related, dutch variant, cerebral amyloid angiopathy, app-related, flemish variant, cerebral amyloid angiopathy, app-related, iowa variant, cerebral amyloid angiopathy, app-related, italian variant, cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants, disease or syndrome, hchwad, hereditary cerebral hemorrhage with amyloidosis-dutch 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="Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type also have clouding of the lens of the eyes (cataracts) and deafness.\n\nPeople with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.\n\nStrokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).\n\nThe first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.\n\nThe Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).\n\nThere are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause, which determines whether areas of the brain other than blood vessels are affected, and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.\n\nHereditary cerebral amyloid angiopathy is a condition characterized by an abnormal buildup of protein clumps called amyloid deposits in the blood vessels in the brain, causing vascular disease (angiopathy). People with hereditary cerebral amyloid angiopathy often have progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=414044
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||
ConceptID=C2751536
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral amyloid angiopathy, APP-related</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414044</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:">C2751536</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>AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants</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="APP - ID: 351 - NCBI Gene" href="/gene/351" class="medgenPMinfo">APP</a> (21q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011583" target="_blank">MONDO:0011583</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/605714" target="_blank">605714</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">Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type also have clouding of the lens of the eyes (cataracts) and deafness.<br /><br />People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.<br /><br />Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).<br /><br />The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.<br /><br />The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).<br /><br />There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause, which determines whether areas of the brain other than blood vessels are affected, and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.<br /><br />Hereditary cerebral amyloid angiopathy is a condition characterized by an abnormal buildup of protein clumps called amyloid deposits in the blood vessels in the brain, causing vascular disease (angiopathy). People with hereditary cerebral amyloid angiopathy often have progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_52522"><div><strong>Stroke disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52522</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.">C0038454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52522">Feature record</a> | <a href="/medgen?term=%22Stroke%20disorder%22%5BClinical%20Features%5D%20OR%2052522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488779"><div><strong>Cerebellar hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488779</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.">C0149854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage into the parenchyma of the cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488779">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hemorrhage%22%5BClinical%20Features%5D%20OR%20488779%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_182975"><div><strong>Cerebral ischemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182975</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.">C0917798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182975">Feature record</a> | <a href="/medgen?term=%22Cerebral%20ischemia%22%5BClinical%20Features%5D%20OR%20182975%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373178"><div><strong>Tortuous cerebral arteries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373178</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.">C1836791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive bending, twisting, and winding of a cerebral artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373178">Feature record</a> | <a href="/medgen?term=%22Tortuous%20cerebral%20arteries%22%5BClinical%20Features%5D%20OR%20373178%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870807"><div><strong>Recurrent cerebral hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870807</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.">C4025264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent bleeding into the parenchyma of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870807">Feature record</a> | <a href="/medgen?term=%22Recurrent%20cerebral%20hemorrhage%22%5BClinical%20Features%5D%20OR%20870807%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14619"><div><strong>Paresthesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14619</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.">C0030554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14619">Feature record</a> | <a href="/medgen?term=%22Paresthesia%22%5BClinical%20Features%5D%20OR%2014619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11625"><div><strong>Subarachnoid hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11625</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.">C0038525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage occurring between the arachnoid mater and the pia mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11625">Feature record</a> | <a href="/medgen?term=%22Subarachnoid%20hemorrhage%22%5BClinical%20Features%5D%20OR%2011625%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_38998"><div><strong>Cerebral amyloid angiopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38998</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.">C0085220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary cerebral amyloid angiopathy is a condition characterized by an abnormal buildup of protein clumps called amyloid deposits in the blood vessels in the brain, causing vascular disease (angiopathy). People with hereditary cerebral amyloid angiopathy often have progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.\n\nThere are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause, which determines whether areas of the brain other than blood vessels are affected, and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.\n\nThe Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).\n\nPeople with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.\n\nThe first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.\n\nStrokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).\n\nTwo types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type also have clouding of the lens of the eyes (cataracts) and deafness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38998">Feature record</a> | <a href="/medgen?term=%22Cerebral%20amyloid%20angiopathy%22%5BClinical%20Features%5D%20OR%2038998%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral amyloid angiopathy</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_488779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_182975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral ischemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent cerebral hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373178" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tortuous cerebral arteries</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_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_14619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paresthesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subarachnoid hemorrhage</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=C2751536[DISCUI]&test_type=Clinical" ref="ncbi_uid=414044">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414044" target="_blank" href="/omim/605714">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=414044" ref="ncbi_uid=414044">V</a></span></span><span class="TLline">Cerebral amyloid angiopathy, APP-related</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/272" ref="tree=MeSH" title="MedGen record for Amyloidosis">Amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/38998" ref="tree=MeSH" title="MedGen record for Cerebral amyloid angiopathy">Cerebral amyloid angiopathy</a></span><ul><li><span class="matched_ds">Cerebral amyloid angiopathy, APP-related</span></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/33148142">Sensitivity of the Edinburgh Criteria for Lobar Intracerebral Hemorrhage in Hereditary Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Etten ES,
|
||
Kaushik K,
|
||
van Zwet EW,
|
||
Voigt S,
|
||
van Walderveen MAA,
|
||
van Buchem MA,
|
||
Terwindt GM,
|
||
Wermer MJH</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Dec;51(12):3608-3612.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1161/STROKEAHA.120.031264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148142" target="_blank">33148142</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebral%20amyloid%20angiopathy%2C%20app-related)%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/33361604">Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee P,
|
||
Fagan AM,
|
||
Xiong C,
|
||
McKay M,
|
||
Bhatnagar A,
|
||
Wu Y,
|
||
Singh AK,
|
||
Taddei K,
|
||
Martins I,
|
||
Gardener SL,
|
||
Molloy MP,
|
||
Multhaup G,
|
||
Masters CL,
|
||
Schofield PR,
|
||
Benzinger TLS,
|
||
Morris JC,
|
||
Bateman RJ,
|
||
Greenberg SM,
|
||
Wermer MJH,
|
||
van Buchem MA,
|
||
Sohrabi HR,
|
||
Martins RN;
|
||
Dominantly Inherited Alzheimer Network</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2021;79(2):895-903.
|
||
doi: 10.3233/JAD-201267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361604" target="_blank">33361604</a><a href="/pmc/articles/PMC8057860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33148142">Sensitivity of the Edinburgh Criteria for Lobar Intracerebral Hemorrhage in Hereditary Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Etten ES,
|
||
Kaushik K,
|
||
van Zwet EW,
|
||
Voigt S,
|
||
van Walderveen MAA,
|
||
van Buchem MA,
|
||
Terwindt GM,
|
||
Wermer MJH</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Dec;51(12):3608-3612.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1161/STROKEAHA.120.031264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148142" target="_blank">33148142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32114932">Migraine With Aura as Early Disease Marker in Hereditary Dutch-Type Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans EA,
|
||
Voigt S,
|
||
Rasing I,
|
||
van Etten ES,
|
||
van Zwet EW,
|
||
van Walderveen MAA,
|
||
Wermer MJH,
|
||
Terwindt GM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Apr;51(4):1094-1099.
|
||
Epub 2020 Mar 2
|
||
doi: 10.1161/STROKEAHA.119.028170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32114932" target="_blank">32114932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29695466">Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans EA,
|
||
van Etten ES,
|
||
van Opstal AM,
|
||
Labadie G,
|
||
Terwindt GM,
|
||
Wermer MJH,
|
||
Webb AG,
|
||
Gurol EM,
|
||
Greenberg SM,
|
||
van Buchem MA,
|
||
van der Grond J,
|
||
van Rooden S</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2018 Jun;49(6):1518-1520.
|
||
Epub 2018 Apr 25
|
||
doi: 10.1161/STROKEAHA.117.020302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29695466" target="_blank">29695466</a><a href="/pmc/articles/PMC5970982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20amyloid%20angiopathy%2C%20APP-related%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361604">Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee P,
|
||
Fagan AM,
|
||
Xiong C,
|
||
McKay M,
|
||
Bhatnagar A,
|
||
Wu Y,
|
||
Singh AK,
|
||
Taddei K,
|
||
Martins I,
|
||
Gardener SL,
|
||
Molloy MP,
|
||
Multhaup G,
|
||
Masters CL,
|
||
Schofield PR,
|
||
Benzinger TLS,
|
||
Morris JC,
|
||
Bateman RJ,
|
||
Greenberg SM,
|
||
Wermer MJH,
|
||
van Buchem MA,
|
||
Sohrabi HR,
|
||
Martins RN;
|
||
Dominantly Inherited Alzheimer Network</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2021;79(2):895-903.
|
||
doi: 10.3233/JAD-201267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361604" target="_blank">33361604</a><a href="/pmc/articles/PMC8057860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33148142">Sensitivity of the Edinburgh Criteria for Lobar Intracerebral Hemorrhage in Hereditary Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Etten ES,
|
||
Kaushik K,
|
||
van Zwet EW,
|
||
Voigt S,
|
||
van Walderveen MAA,
|
||
van Buchem MA,
|
||
Terwindt GM,
|
||
Wermer MJH</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Dec;51(12):3608-3612.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1161/STROKEAHA.120.031264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148142" target="_blank">33148142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32114932">Migraine With Aura as Early Disease Marker in Hereditary Dutch-Type Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans EA,
|
||
Voigt S,
|
||
Rasing I,
|
||
van Etten ES,
|
||
van Zwet EW,
|
||
van Walderveen MAA,
|
||
Wermer MJH,
|
||
Terwindt GM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Apr;51(4):1094-1099.
|
||
Epub 2020 Mar 2
|
||
doi: 10.1161/STROKEAHA.119.028170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32114932" target="_blank">32114932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30717612">Multiple Approaches to Diffusion Magnetic Resonance Imaging in Hereditary Cerebral Amyloid Angiopathy Mutation Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schouten TM,
|
||
de Vos F,
|
||
van Rooden S,
|
||
Bouts MJRJ,
|
||
van Opstal AM,
|
||
Feis RA,
|
||
Terwindt GM,
|
||
Wermer MJH,
|
||
van Buchem MA,
|
||
Greenberg SM,
|
||
de Rooij M,
|
||
Rombouts SARB,
|
||
van der Grond J</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2019 Feb 5;8(3):e011288.
|
||
doi: 10.1161/JAHA.118.011288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30717612" target="_blank">30717612</a><a href="/pmc/articles/PMC6405585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20amyloid%20angiopathy%2C%20APP-related%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38445479">Temporal Ordering of Biomarkers in Dutch-Type Hereditary Cerebral Amyloid Angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans EA,
|
||
Rasing I,
|
||
Voigt S,
|
||
van Harten TW,
|
||
van der Zwet RGJ,
|
||
Kaushik K,
|
||
Schipper MR,
|
||
van der Weerd N,
|
||
van Zwet EW,
|
||
van Etten ES,
|
||
van Osch MJP,
|
||
Kuiperij B,
|
||
Verbeek MM,
|
||
Terwindt GM,
|
||
Greenberg SM,
|
||
van Walderveen MAA,
|
||
Wermer MJH</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2024 Apr;55(4):954-962.
|
||
Epub 2024 Mar 6
|
||
doi: 10.1161/STROKEAHA.123.044688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38445479" target="_blank">38445479</a><a href="/pmc/articles/PMC10962436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361604">Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee P,
|
||
Fagan AM,
|
||
Xiong C,
|
||
McKay M,
|
||
Bhatnagar A,
|
||
Wu Y,
|
||
Singh AK,
|
||
Taddei K,
|
||
Martins I,
|
||
Gardener SL,
|
||
Molloy MP,
|
||
Multhaup G,
|
||
Masters CL,
|
||
Schofield PR,
|
||
Benzinger TLS,
|
||
Morris JC,
|
||
Bateman RJ,
|
||
Greenberg SM,
|
||
Wermer MJH,
|
||
van Buchem MA,
|
||
Sohrabi HR,
|
||
Martins RN;
|
||
Dominantly Inherited Alzheimer Network</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2021;79(2):895-903.
|
||
doi: 10.3233/JAD-201267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361604" target="_blank">33361604</a><a href="/pmc/articles/PMC8057860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30868685">Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grand Moursel L,
|
||
van der Graaf LM,
|
||
Bulk M,
|
||
van Roon-Mom WMC,
|
||
van der Weerd L</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2019 Nov;29(6):793-802.
|
||
Epub 2019 Apr 4
|
||
doi: 10.1111/bpa.12721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30868685" target="_blank">30868685</a><a href="/pmc/articles/PMC6850614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30354978">Cerebral Amyloid Angiopathy With Vascular Iron Accumulation and Calcification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bulk M,
|
||
Moursel LG,
|
||
van der Graaf LM,
|
||
van Veluw SJ,
|
||
Greenberg SM,
|
||
van Duinen SG,
|
||
van Buchem MA,
|
||
van Rooden S,
|
||
van der Weerd L</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2018 Sep;49(9):2081-2087.
|
||
doi: 10.1161/STROKEAHA.118.021872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30354978" target="_blank">30354978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29695466">Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans EA,
|
||
van Etten ES,
|
||
van Opstal AM,
|
||
Labadie G,
|
||
Terwindt GM,
|
||
Wermer MJH,
|
||
Webb AG,
|
||
Gurol EM,
|
||
Greenberg SM,
|
||
van Buchem MA,
|
||
van der Grond J,
|
||
van Rooden S</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2018 Jun;49(6):1518-1520.
|
||
Epub 2018 Apr 25
|
||
doi: 10.1161/STROKEAHA.117.020302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29695466" target="_blank">29695466</a><a href="/pmc/articles/PMC5970982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20amyloid%20angiopathy%2C%20APP-related%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 (7)</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">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751536%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751536%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751536%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751536%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751536%5bDISCUI%5d" target="_blank">See all (28)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605714" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cerebral%20amyloid%20angiopathy,%20APP-related" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(cerebral%20amyloid%20angiopathy%2C%20app-related)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_115">
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<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>
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||
<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=104760" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=351[geneid]" target="_blank">View APP variations in ClinVar</a></li><li><a href="/nuccore/166795291" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=605714" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/CEREBRAL+AMYLOID+ANGIOPATHY%2C+APP-RELATED/7936" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/cerebral_amyloid_angiopathy_app_related" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cerebral%20amyloid%20angiopathy,%20APP-related" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cerebral%20amyloid%20angiopathy,%20APP-related" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cerebral%20amyloid%20angiopathy,%20APP-related%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">
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||
<div class="portlet_title">
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||
<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=414044" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=414044" ref="log$=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=C2751536[DISCUI]" ref="log$=recordlinks">GTR</a>
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