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<meta name="keywords" content="C4225335, basal ganglia calcification, idiopathic, 6, basal ganglia calcification, idiopathic, type 6, bilateral striopallidodentate calcinosis caused by mutation in xpr1, disease or syndrome, ibgc6, xpr1, xpr1 bilateral striopallidodentate calcinosis, 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="Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=901404
|
||
ConceptID=C4225335
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Basal ganglia calcification, idiopathic, 6<span class="h1sub">(IBGC6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901404</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:">C4225335</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>IBGC6</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="XPR1 - ID: 9213 - NCBI Gene" href="/gene/9213" class="medgenPMinfo">XPR1</a> (1q25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014628" target="_blank">MONDO:0014628</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616413" target="_blank">616413</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1421" target="_blank">Primary Familial Brain Calcification</a></div><div>Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1421#bgc.Summary" target="NBK1421">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Diagnosis" target="NBK1421">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Clinical_Characteristics" target="NBK1421">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Genetically_Related_Allelic_Disorder" target="NBK1421">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Differential_Diagnosis" target="NBK1421">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Management" target="NBK1421">Management</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Genetic_Counseling" target="NBK1421">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Resources" target="NBK1421">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Molecular_Genetics" target="NBK1421">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.Chapter_Notes" target="NBK1421">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1421#bgc.References" target="NBK1421">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Eliana Marisa Ramos | Joao Oliveira | Maria J Sobrido<i>, et. al.</i> <a href="/books/NBK1421" target="NBK1421" title="NCBI Bookshelf: Primary Familial Brain Calcification">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Idiopathic basal ganglia calcification-6 (IBGC6) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).
|
||
For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). <a target="_blank" href="http://www.omim.org/entry/616413">http://www.omim.org/entry/616413</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.<br /><br />The main signs and symptoms of primary familial brain calcification are movement disorders and psychiatric or behavioral problems. These difficulties usually begin in mid-adulthood, and worsen over time. Most affected individuals have a group of movement abnormalities called parkinsonism, which include unusually slow movement (bradykinesia), muscle rigidity, and tremors. Other movement problems common in people with primary familial brain calcification include involuntary tensing of various muscles (dystonia), uncontrollable movements of the limbs (choreoathetosis), and an unsteady walking style (gait).<br /><br />Psychiatric and behavioral problems occur in 20 to 30 percent of people with primary familial brain calcification. These problems can include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). Affected individuals may also have difficulty swallowing (dysphagia), impaired speech, headache, episodes of extreme dizziness (vertigo), seizures, or urinary problems.<br /><br />The severity of primary familial brain calcification varies among affected individuals; some people have no symptoms related to the condition, whereas others have significant movement and psychiatric problems. <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification">https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</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.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68579"><div><strong>Memory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68579</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.">C0233794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68579">Feature record</a> | <a href="/medgen?term=%22Memory%20impairment%22%5BClinical%20Features%5D%20OR%2068579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90932"><div><strong>Cognitive impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90932</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.">C0338656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90932">Feature record</a> | <a href="/medgen?term=%22Cognitive%20impairment%22%5BClinical%20Features%5D%20OR%2090932%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_581078"><div><strong>Palilalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>581078</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.">C0392185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/581078">Feature record</a> | <a href="/medgen?term=%22Palilalia%22%5BClinical%20Features%5D%20OR%20581078%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140884"><div><strong>Involuntary movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140884</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.">C0427086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140884">Feature record</a> | <a href="/medgen?term=%22Involuntary%20movements%22%5BClinical%20Features%5D%20OR%20140884%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_234651"><div><strong>Basal ganglia calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234651</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.">C1389280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calcium deposition affecting one or more structures of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234651">Feature record</a> | <a href="/medgen?term=%22Basal%20ganglia%20calcification%22%5BClinical%20Features%5D%20OR%20234651%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal ganglia calcification</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_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Involuntary movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Memory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_581078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palilalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></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/34287746">Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salamon A,
|
||
Zádori D,
|
||
Ujfalusi A,
|
||
Szpisjak L,
|
||
Lukács M,
|
||
Bihari B,
|
||
Szépfalusi N,
|
||
Németh VL,
|
||
Maróti Z,
|
||
Horváth E,
|
||
Balogh I,
|
||
Bereczki C,
|
||
Klivényi P,
|
||
Kalmár T</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2021 Oct;36(7):2131-2139.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1007/s11011-021-00790-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34287746" target="_blank">34287746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29642163">Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi X,
|
||
Zheng F,
|
||
Ye X,
|
||
Li X,
|
||
Zhao Q,
|
||
Lin Z,
|
||
Hu Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2018 Apr;97(15):e0316.
|
||
doi: 10.1097/MD.0000000000010316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29642163" target="_blank">29642163</a><a href="/pmc/articles/PMC5908570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26129893">Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas G,
|
||
Charbonnier C,
|
||
de Lemos RR,
|
||
Richard AC,
|
||
Guillin O,
|
||
Wallon D,
|
||
Legati A,
|
||
Geschwind D,
|
||
Coppola G,
|
||
Frebourg T,
|
||
Campion D,
|
||
de Oliveira JR,
|
||
Hannequin D;
|
||
collaborators from the French IBGC study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet B Neuropsychiatr Genet</span>
|
||
2015 Oct;168(7):586-94.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1002/ajmg.b.32336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26129893" target="_blank">26129893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22288727">Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goswami R,
|
||
Sharma R,
|
||
Sreenivas V,
|
||
Gupta N,
|
||
Ganapathy A,
|
||
Das S</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2012 Aug;77(2):200-6.
|
||
doi: 10.1111/j.1365-2265.2012.04353.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22288727" target="_blank">22288727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21891938">Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhadada SK,
|
||
Bhansali A,
|
||
Upreti V,
|
||
Subbiah S,
|
||
Khandelwal N</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2011 Jul-Aug;59(4):586-9.
|
||
doi: 10.4103/0028-3886.84342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21891938" target="_blank">21891938</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%206%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36397039">SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
|
||
Fu Q,
|
||
Xiang L,
|
||
Zheng Y,
|
||
Ping W,
|
||
Cao Y</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 Nov 17;22(1):438.
|
||
doi: 10.1186/s12883-022-02973-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36397039" target="_blank">36397039</a><a href="/pmc/articles/PMC9670500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33655415">Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
AbuAlrob H,
|
||
Punthakee Z,
|
||
Shrayyef M,
|
||
Werfalli RE,
|
||
Kassem HA,
|
||
Braga M,
|
||
Millar A,
|
||
Hussain S,
|
||
Iqbal S,
|
||
Khan T,
|
||
Paul T,
|
||
Van Uum S,
|
||
Young JEM</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2021 May;72(2):553-561.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1007/s12020-021-02629-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33655415" target="_blank">33655415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32593413">Sepsis Unmasking Fahr's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandal AKJ,
|
||
Patel NB,
|
||
Missouris CG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2020 Oct;360(4):406-409.
|
||
Epub 2020 May 21
|
||
doi: 10.1016/j.amjms.2020.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32593413" target="_blank">32593413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26384470">Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Shin YL,
|
||
Yang S,
|
||
Cheon CK,
|
||
Cho JH,
|
||
Lee BH,
|
||
Kim GH,
|
||
Lee JO,
|
||
Seo EJ,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2015 Dec;83(6):790-6.
|
||
Epub 2015 Oct 19
|
||
doi: 10.1111/cen.12944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26384470" target="_blank">26384470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21891938">Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhadada SK,
|
||
Bhansali A,
|
||
Upreti V,
|
||
Subbiah S,
|
||
Khandelwal N</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2011 Jul-Aug;59(4):586-9.
|
||
doi: 10.4103/0028-3886.84342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21891938" target="_blank">21891938</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%206%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32593413">Sepsis Unmasking Fahr's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandal AKJ,
|
||
Patel NB,
|
||
Missouris CG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2020 Oct;360(4):406-409.
|
||
Epub 2020 May 21
|
||
doi: 10.1016/j.amjms.2020.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32593413" target="_blank">32593413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26384470">Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Shin YL,
|
||
Yang S,
|
||
Cheon CK,
|
||
Cho JH,
|
||
Lee BH,
|
||
Kim GH,
|
||
Lee JO,
|
||
Seo EJ,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2015 Dec;83(6):790-6.
|
||
Epub 2015 Oct 19
|
||
doi: 10.1111/cen.12944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26384470" target="_blank">26384470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24011318">Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacheco D,
|
||
Travassos AR,
|
||
Antunes J,
|
||
Marques MS,
|
||
Filipe P,
|
||
Silva R</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2013 Jun 15;19(6):18569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24011318" target="_blank">24011318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21891938">Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhadada SK,
|
||
Bhansali A,
|
||
Upreti V,
|
||
Subbiah S,
|
||
Khandelwal N</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2011 Jul-Aug;59(4):586-9.
|
||
doi: 10.4103/0028-3886.84342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21891938" target="_blank">21891938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3081601">The treatment of psychotic symptoms in Fahr's disease with lithium carbonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munir KM</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychopharmacol</span>
|
||
1986 Feb;6(1):36-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3081601" target="_blank">3081601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%206%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26384470">Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Shin YL,
|
||
Yang S,
|
||
Cheon CK,
|
||
Cho JH,
|
||
Lee BH,
|
||
Kim GH,
|
||
Lee JO,
|
||
Seo EJ,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2015 Dec;83(6):790-6.
|
||
Epub 2015 Oct 19
|
||
doi: 10.1111/cen.12944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26384470" target="_blank">26384470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26129893">Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas G,
|
||
Charbonnier C,
|
||
de Lemos RR,
|
||
Richard AC,
|
||
Guillin O,
|
||
Wallon D,
|
||
Legati A,
|
||
Geschwind D,
|
||
Coppola G,
|
||
Frebourg T,
|
||
Campion D,
|
||
de Oliveira JR,
|
||
Hannequin D;
|
||
collaborators from the French IBGC study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet B Neuropsychiatr Genet</span>
|
||
2015 Oct;168(7):586-94.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1002/ajmg.b.32336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26129893" target="_blank">26129893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21891938">Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhadada SK,
|
||
Bhansali A,
|
||
Upreti V,
|
||
Subbiah S,
|
||
Khandelwal N</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2011 Jul-Aug;59(4):586-9.
|
||
doi: 10.4103/0028-3886.84342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21891938" target="_blank">21891938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3452848">Computed tomography of basal ganglia calcifications in pseudo- and idiopathic hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukunaga M,
|
||
Otsuka N,
|
||
Ono S,
|
||
Kajihara Y,
|
||
Nishishita S,
|
||
Nakano Y,
|
||
Yamamoto I,
|
||
Torizuka K,
|
||
Morita R</span><br />
|
||
<span class="medgenPMjournal">Radiat Med</span>
|
||
1987 Nov-Dec;5(6):187-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3452848" target="_blank">3452848</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%206%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33655415">Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
AbuAlrob H,
|
||
Punthakee Z,
|
||
Shrayyef M,
|
||
Werfalli RE,
|
||
Kassem HA,
|
||
Braga M,
|
||
Millar A,
|
||
Hussain S,
|
||
Iqbal S,
|
||
Khan T,
|
||
Paul T,
|
||
Van Uum S,
|
||
Young JEM</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2021 May;72(2):553-561.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1007/s12020-021-02629-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33655415" target="_blank">33655415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30430526">Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Aoud S,
|
||
Elleuch M,
|
||
Charfi N,
|
||
Hadj Kacem F,
|
||
Mnif M,
|
||
Rekike N,
|
||
Mnif F,
|
||
Abid M</span><br />
|
||
<span class="medgenPMjournal">Tunis Med</span>
|
||
2018 Aug-Sep;96(8-9):490-494.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30430526" target="_blank">30430526</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26384470">Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Shin YL,
|
||
Yang S,
|
||
Cheon CK,
|
||
Cho JH,
|
||
Lee BH,
|
||
Kim GH,
|
||
Lee JO,
|
||
Seo EJ,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2015 Dec;83(6):790-6.
|
||
Epub 2015 Oct 19
|
||
doi: 10.1111/cen.12944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26384470" target="_blank">26384470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26129893">Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas G,
|
||
Charbonnier C,
|
||
de Lemos RR,
|
||
Richard AC,
|
||
Guillin O,
|
||
Wallon D,
|
||
Legati A,
|
||
Geschwind D,
|
||
Coppola G,
|
||
Frebourg T,
|
||
Campion D,
|
||
de Oliveira JR,
|
||
Hannequin D;
|
||
collaborators from the French IBGC study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet B Neuropsychiatr Genet</span>
|
||
2015 Oct;168(7):586-94.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1002/ajmg.b.32336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26129893" target="_blank">26129893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23482593">Neuropsychological dysfunction in idiopathic hypoparathyroidism and its relationship with intracranial calcification and serum total calcium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aggarwal S,
|
||
Kailash S,
|
||
Sagar R,
|
||
Tripathi M,
|
||
Sreenivas V,
|
||
Sharma R,
|
||
Gupta N,
|
||
Goswami R</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2013 Jun;168(6):895-903.
|
||
Epub 2013 May 7
|
||
doi: 10.1530/EJE-12-0946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23482593" target="_blank">23482593</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%206%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 (11)</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=C4225335%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225335%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225335%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225335%5bDISCUI%5d" target="_blank">See all (14)</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=616413" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Basal%20ganglia%20calcification,%20idiopathic,%206" target="_blank">ClinicalTrials.gov</a></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=605237" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9213[geneid]" target="_blank">View XPR1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616413" 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="https://www.malacards.org/card/basal_ganglia_calcification_idiopathic_6" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Basal%20ganglia%20calcification,%20idiopathic,%206" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16107/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/20301594" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Basal%20ganglia%20calcification,%20idiopathic,%206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Basal%20ganglia%20calcification,%20idiopathic,%206%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<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=901404" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=901404" ref="log$=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=C4225335[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225335[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=901404" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=901404" ref="log$=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=901404" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=901404" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=901404" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=901404" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=901404" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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