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<meta name="keywords" content="C3554321, basal ganglia calcification, idiopathic, 4, basal ganglia calcification, idiopathic, type 4, disease or syndrome, familial idiopathic basal ganglia calcification 4, ibgc4, pdgfrb, primary familial brain calcification 4, 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=767235
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ConceptID=C3554321
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Basal ganglia calcification, idiopathic, 4<span class="h1sub">(IBGC4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767235</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:">C3554321</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>Familial Idiopathic Basal Ganglia Calcification 4; IBGC4; Primary Familial Brain Calcification 4</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="PDGFRB - ID: 5159 - NCBI Gene" href="/gene/5159" class="medgenPMinfo">PDGFRB</a> (5q32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014004" target="_blank">MONDO:0014004</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615007" target="_blank">615007</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-4 (IBGC4) is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013).
|
||
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/615007">http://www.omim.org/entry/615007</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_2649"><div><strong>Bipolar affective disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2649</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.">C0005586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2649">Feature record</a> | <a href="/medgen?term=%22Bipolar%20affective%20disorder%22%5BClinical%20Features%5D%20OR%202649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%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_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_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%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="divPopper rprt" id="clin_124399"><div><strong>Horizontal nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124399</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.">C0271385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus consisting of horizontal to-and-fro eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124399">Feature record</a> | <a href="/medgen?term=%22Horizontal%20nystagmus%22%5BClinical%20Features%5D%20OR%20124399%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal nystagmus</a></span></li></ul></li><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_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bipolar affective disorder</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_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</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></ul></li></ul></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/28585220">Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke Y,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2017 Aug;15(4):255-270.
|
||
doi: 10.1007/s11914-017-0370-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28585220" target="_blank">28585220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(basal%20ganglia%20calcification%2C%20idiopathic%2C%204)%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/35063775">PDGF-BB is involved in phosphate regulation via the phosphate transporters in human neuroblastoma SH-SY5Y cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takase N,
|
||
Inden M,
|
||
Murayama Y,
|
||
Mishima A,
|
||
Kurita H,
|
||
Hozumi I</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2022 Feb 19;593:93-100.
|
||
Epub 2022 Jan 14
|
||
doi: 10.1016/j.bbrc.2022.01.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35063775" target="_blank">35063775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29627011">Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hozumi I,
|
||
Kurita H,
|
||
Ozawa K,
|
||
Furuta N,
|
||
Inden M,
|
||
Sekine SI,
|
||
Yamada M,
|
||
Hayashi Y,
|
||
Kimura A,
|
||
Inuzuka T,
|
||
Seishima M</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2018 May 15;388:150-154.
|
||
Epub 2018 Mar 8
|
||
doi: 10.1016/j.jns.2018.03.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29627011" target="_blank">29627011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28585220">Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke Y,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2017 Aug;15(4):255-270.
|
||
doi: 10.1007/s11914-017-0370-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28585220" target="_blank">28585220</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/22772876">Genetics of Parkinson disease and other movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar KR,
|
||
Lohmann K,
|
||
Klein C</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2012 Aug;25(4):466-74.
|
||
doi: 10.1097/WCO.0b013e3283547627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22772876" target="_blank">22772876</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%204%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 (11)</a></div><h3 class="subhead">Diagnosis</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/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/23103923">Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abubakar SA,
|
||
Saidu S</span><br />
|
||
<span class="medgenPMjournal">Ann Afr Med</span>
|
||
2012 Oct-Dec;11(4):234-7.
|
||
doi: 10.4103/1596-3519.102855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23103923" target="_blank">23103923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21479613">Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonazza S,
|
||
La Morgia C,
|
||
Martinelli P,
|
||
Capellari S</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2011 Aug;32(4):537-45.
|
||
Epub 2011 Apr 9
|
||
doi: 10.1007/s10072-011-0514-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21479613" target="_blank">21479613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9568766">Idiopathic hypoparathyroidism with basal ganglia calcification, epilepsy, and interictal focal hyperperfusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sztriha L,
|
||
Punnose J,
|
||
Prais V,
|
||
El-Khider A,
|
||
Chandran P,
|
||
Al Suhaili AR</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1998 Apr;13(4):189-92.
|
||
doi: 10.1177/088307389801300410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9568766" target="_blank">9568766</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%204%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 (13)</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 />
|
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<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/23103923">Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abubakar SA,
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Saidu S</span><br />
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<span class="medgenPMjournal">Ann Afr Med</span>
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2012 Oct-Dec;11(4):234-7.
|
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doi: 10.4103/1596-3519.102855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23103923" target="_blank">23103923</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,
|
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Upreti V,
|
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Subbiah S,
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Khandelwal N</span><br />
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<span class="medgenPMjournal">Neurol India</span>
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2011 Jul-Aug;59(4):586-9.
|
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doi: 10.4103/0028-3886.84342.
|
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<span class="bold">PMID: </span><a href="/pubmed/21891938" target="_blank">21891938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20803049">A fatal Mycobacterium chelonae infection in an immunosuppressed patient with systemic lupus erythematosus and concomitant Fahr's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic M,
|
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Zmak L,
|
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Krajinovic V,
|
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Viskovic K,
|
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Crnek SS,
|
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Obrovac M,
|
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Haris V,
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Jankovic VK</span><br />
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<span class="medgenPMjournal">J Infect Chemother</span>
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2011 Apr;17(2):264-7.
|
||
Epub 2010 Aug 28
|
||
doi: 10.1007/s10156-010-0110-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20803049" target="_blank">20803049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17762321">Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alemdar M,
|
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Iseri P,
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Selekler M,
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Komsuoğlu SS</span><br />
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<span class="medgenPMjournal">Clin Neuropharmacol</span>
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2007 Jul-Aug;30(4):241-4.
|
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doi: 10.1097/wnf.0b013e31803b9415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17762321" target="_blank">17762321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%204%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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,
|
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Charbonnier C,
|
||
de Lemos RR,
|
||
Richard AC,
|
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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 />
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<span class="medgenPMjournal">Am J Med Genet B Neuropsychiatr Genet</span>
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||
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/24463626">Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada M,
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Tanaka M,
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Takagi M,
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Kobayashi S,
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Taguchi Y,
|
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Takashima S,
|
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Tanaka K,
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||
Touge T,
|
||
Hatsuta H,
|
||
Murayama S,
|
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Hayashi Y,
|
||
Kaneko M,
|
||
Ishiura H,
|
||
Mitsui J,
|
||
Atsuta N,
|
||
Sobue G,
|
||
Shimozawa N,
|
||
Inuzuka T,
|
||
Tsuji S,
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Hozumi I</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
||
2014 Feb 25;82(8):705-12.
|
||
Epub 2014 Jan 24
|
||
doi: 10.1212/WNL.0000000000000143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24463626" target="_blank">24463626</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/20803049">A fatal Mycobacterium chelonae infection in an immunosuppressed patient with systemic lupus erythematosus and concomitant Fahr's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic M,
|
||
Zmak L,
|
||
Krajinovic V,
|
||
Viskovic K,
|
||
Crnek SS,
|
||
Obrovac M,
|
||
Haris V,
|
||
Jankovic VK</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2011 Apr;17(2):264-7.
|
||
Epub 2010 Aug 28
|
||
doi: 10.1007/s10156-010-0110-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20803049" target="_blank">20803049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%204%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/39180105">Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobara T,
|
||
Higuchi Y,
|
||
Yoshida M,
|
||
Suehara M,
|
||
Ando M,
|
||
Yuan JH,
|
||
Yoshimura A,
|
||
Kojima F,
|
||
Matsuura E,
|
||
Okamoto Y,
|
||
Mitsui J,
|
||
Tsuji S,
|
||
Takashima H</span><br />
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||
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
|
||
2024 Aug 23;12(1):136.
|
||
doi: 10.1186/s40478-024-01847-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39180105" target="_blank">39180105</a><a href="/pmc/articles/PMC11342542" 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/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/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/24946076">PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Betsholtz C,
|
||
Keller A</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2014 Jul;24(4):387-95.
|
||
doi: 10.1111/bpa.12158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24946076" target="_blank">24946076</a><a href="/pmc/articles/PMC8029277" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Basal%20ganglia%20calcification%2C%20idiopathic%2C%204%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
||
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3554321%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554321%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554321%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3554321%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
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</div>
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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=615007" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Basal%20ganglia%20calcification,%20idiopathic,%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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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=(basal%20ganglia%20calcification%2C%20idiopathic%2C%204)%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 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=173410" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5159[geneid]" target="_blank">View PDGFRB variations in ClinVar</a></li><li><a href="/nuccore/300796044" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615007" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/basal_ganglia_calcification_idiopathic_4" 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,%204" 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/15893/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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