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<meta name="keywords" content="C0270726, alexander disease, alexander's disease, alexanders disease, alexanders leukodystrophy, alxdrd, axd, axd - alexander disease, demyelinogenic leukodystrophy, disease or syndrome, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, gfap, leukodystrophy with rosenthal fibers, megalencephaly in infancy accompanied by progressive spasticity and dementia, 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="Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Alexander disease (Concept Id: C0270726)
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alexander disease<span class="h1sub">(ALXDRD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78724</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0270726</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>Alexander's disease; Alexanders leukodystrophy; ALXDRD; Megalencephaly in infancy accompanied by progressive spasticity and dementia</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Alexander disease (81854007); Alexander's disease (81854007); Fibrinoid leukodystrophy (81854007); AxD - Alexander disease (81854007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="GFAP - ID: 2670 - NCBI Gene" href="/gene/2670" class="medgenPMinfo">GFAP</a> (17q21.31)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008752" target="_blank">MONDO:0008752</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/203450" target="_blank">203450</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=58">ORPHA58</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<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/NBK1172" target="_blank">Alexander Disease</a></div><div>Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction. [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/NBK1172#alexander.Summary" target="NBK1172">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.GeneReview_Scope" target="NBK1172">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Diagnosis" target="NBK1172">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Clinical_Characteristics" target="NBK1172">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Genetically_Related_Allelic_Di" target="NBK1172">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Differential_Diagnosis" target="NBK1172">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Management" target="NBK1172">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Genetic_Counseling" target="NBK1172">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Resources" target="NBK1172">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Molecular_Genetics" target="NBK1172">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.Chapter_Notes" target="NBK1172">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1172#alexander.References" target="NBK1172">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Siddharth Srivastava  |  Amy Waldman  |  Sakkubai Naidu   <a href="/books/NBK1172" target="NBK1172" title="NCBI Bookshelf: Alexander Disease">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 />In decreasing order of frequency, 3 forms of Alexander disease (ALXDRD) are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.  <a target="_blank" href="http://www.omim.org/entry/203450">http://www.omim.org/entry/203450</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.<br /><br />Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures.<br /><br />Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).  <a target="_blank" href="https://medlineplus.gov/genetics/condition/alexander-disease">https://medlineplus.gov/genetics/condition/alexander-disease</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</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)&#10;Click for more information.">C0015672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4390"><div><strong>Drowsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4390</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)&#10;Click for more information.">C0013144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal feeling of sleepiness or difficulty staying awake.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4390">Feature record</a> | <a href="/medgen?term=%22Drowsiness%22%5BClinical%20Features%5D%20OR%204390%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)&#10;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_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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)&#10;Click for more information.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45286"><div><strong>Palatal tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45286</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)&#10;Click for more information.">C0030214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45286">Feature record</a> | <a href="/medgen?term=%22Palatal%20tremor%22%5BClinical%20Features%5D%20OR%2045286%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</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)&#10;Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%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)&#10;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_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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)&#10;Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_329971"><div><strong>Increased CSF protein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329971</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)&#10;Click for more information.">C1806780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased concentration of protein in the cerebrospinal fluid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/329971">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20protein%20concentration%22%5BClinical%20Features%5D%20OR%20329971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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)&#10;Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347246"><div><strong>Bulbar signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347246</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)&#10;Click for more information.">C1856507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347246">Feature record</a> | <a href="/medgen?term=%22Bulbar%20signs%22%5BClinical%20Features%5D%20OR%20347246%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867758"><div><strong>Abnormal dentate nucleus morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867758</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)&#10;Click for more information.">C4022148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the dentate nucleus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867758">Feature record</a> | <a href="/medgen?term=%22Abnormal%20dentate%20nucleus%20morphology%22%5BClinical%20Features%5D%20OR%20867758%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870483"><div><strong>Diffuse demyelination of the cerebral white matter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870483</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)&#10;Click for more information.">C4024930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A diffuse loss of myelin from nerve fibers in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870483">Feature record</a> | <a href="/medgen?term=%22Diffuse%20demyelination%20of%20the%20cerebral%20white%20matter%22%5BClinical%20Features%5D%20OR%20870483%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_395368"><div><strong>Progressive macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395368</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)&#10;Click for more information.">C1859896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The progressive development of an abnormally large skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395368">Feature record</a> | <a href="/medgen?term=%22Progressive%20macrocephaly%22%5BClinical%20Features%5D%20OR%20395368%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78770"><div><strong>Pendular nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78770</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)&#10;Click for more information.">C0271388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78770">Feature record</a> | <a href="/medgen?term=%22Pendular%20nystagmus%22%5BClinical%20Features%5D%20OR%2078770%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1372399"><div><strong>Microcoria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1372399</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)&#10;Click for more information.">C4476808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1372399">Feature record</a> | <a href="/medgen?term=%22Microcoria%22%5BClinical%20Features%5D%20OR%201372399%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_1372399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcoria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pendular 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_395368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive macrocephaly</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_867758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal dentate nucleus morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbar signs</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse demyelination of the cerebral white matter</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drowsiness</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_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_329971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF protein concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palatal tremor</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</a></span></li></ul></li></ul></div></div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270726[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78724" target="_blank" href="/omim/137780">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1172/" ref="ncbi_uid=78724">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78724" ref="ncbi_uid=78724">V</a></span></span><span class="TLline">Alexander disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="matched_ds">Alexander disease</span><ul><li><span class="TLline"><a href="/medgen/1820954" ref="tree=MeSH" title="MedGen record for Alexander disease type I">Alexander disease type I</a></span></li><li><span class="TLline"><a href="/medgen/1842714" ref="tree=MeSH" title="MedGen record for Alexander disease type II">Alexander disease type II</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=2&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Alexander disease</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/35482908">Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holm A,
Hansen SN,
Klitgaard H,
Kauppinen S</span><br />
<span class="medgenPMjournal">RNA Biol</span>
2022;19(1):594-608.
Epub 2021 Dec 31
doi: 10.1080/15476286.2022.2066334.
<span class="bold">PMID: </span><a href="/pubmed/35482908" target="_blank">35482908</a><a href="/pmc/articles/PMC9067473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29226998">Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hagemann TL,
Powers B,
Mazur C,
Kim A,
Wheeler S,
Hung G,
Swayze E,
Messing A</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2018 Jan;83(1):27-39.
Epub 2018 Jan 14
doi: 10.1002/ana.25118.
<span class="bold">PMID: </span><a href="/pubmed/29226998" target="_blank">29226998</a><a href="/pmc/articles/PMC5876100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20880512">Strategies for treatment in Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Messing A,
LaPash Daniels CM,
Hagemann TL</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2010 Oct;7(4):507-15.
doi: 10.1016/j.nurt.2010.05.013.
<span class="bold">PMID: </span><a href="/pubmed/20880512" target="_blank">20880512</a><a href="/pmc/articles/PMC2948554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alexander%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and" target="_blank">Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</a></h3>
</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/38216970">Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng X,
Yang J,
Hou Y,
Shi X,
Liu K</span><br />
<span class="medgenPMjournal">Eur J Med Res</span>
2024 Jan 12;29(1):51.
doi: 10.1186/s40001-023-01631-4.
<span class="bold">PMID: </span><a href="/pubmed/38216970" target="_blank">38216970</a><a href="/pmc/articles/PMC10785482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35482908">Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holm A,
Hansen SN,
Klitgaard H,
Kauppinen S</span><br />
<span class="medgenPMjournal">RNA Biol</span>
2022;19(1):594-608.
Epub 2021 Dec 31
doi: 10.1080/15476286.2022.2066334.
<span class="bold">PMID: </span><a href="/pubmed/35482908" target="_blank">35482908</a><a href="/pmc/articles/PMC9067473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31989877">Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aksoy DÖ,
Alkan A</span><br />
<span class="medgenPMjournal">Curr Med Imaging Rev</span>
2019;15(3):255-268.
doi: 10.2174/1573405613666171123152451.
<span class="bold">PMID: </span><a href="/pubmed/31989877" target="_blank">31989877</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
Mar S</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2012;724:154-71.
doi: 10.1007/978-1-4614-0653-2_13.
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30620693">Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Resende LL,
de Paiva ARB,
Kok F,
da Costa Leite C,
Lucato LT</span><br />
<span class="medgenPMjournal">Radiographics</span>
2019 Jan-Feb;39(1):153-168.
doi: 10.1148/rg.2019180081.
<span class="bold">PMID: </span><a href="/pubmed/30620693" target="_blank">30620693</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29478608">Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Messing A</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2018;148:693-700.
doi: 10.1016/B978-0-444-64076-5.00044-2.
<span class="bold">PMID: </span><a href="/pubmed/29478608" target="_blank">29478608</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28674989">Leukodystrophy: Basic and Clinical.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raymond GV</span><br />
<span class="medgenPMjournal">Adv Neurobiol</span>
2017;15:365-382.
doi: 10.1007/978-3-319-57193-5_14.
<span class="bold">PMID: </span><a href="/pubmed/28674989" target="_blank">28674989</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23149175">Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI,
Dragoumi P,
Vargiami E</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2013 Mar;162(3):648.
Epub 2012 Nov 10
doi: 10.1016/j.jpeds.2012.09.047.
<span class="bold">PMID: </span><a href="/pubmed/23149175" target="_blank">23149175</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (170)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39276676">Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Metovic J,
Li Y,
Gong Y,
Eichler F</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2024 Jul;21(4):e00443.
Epub 2024 Sep 13
doi: 10.1016/j.neurot.2024.e00443.
<span class="bold">PMID: </span><a href="/pubmed/39276676" target="_blank">39276676</a><a href="/pmc/articles/PMC11418141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35482908">Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holm A,
Hansen SN,
Klitgaard H,
Kauppinen S</span><br />
<span class="medgenPMjournal">RNA Biol</span>
2022;19(1):594-608.
Epub 2021 Dec 31
doi: 10.1080/15476286.2022.2066334.
<span class="bold">PMID: </span><a href="/pubmed/35482908" target="_blank">35482908</a><a href="/pmc/articles/PMC9067473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30017431">Botox Injection for Laryngeal Dysfunction in Alexander Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutt A,
Karatayli Ozgursoy S</span><br />
<span class="medgenPMjournal">J Voice</span>
2019 Sep;33(5):728-729.
Epub 2018 Jul 13
doi: 10.1016/j.jvoice.2018.02.002.
<span class="bold">PMID: </span><a href="/pubmed/30017431" target="_blank">30017431</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27714692">Astrocyte Dysfunction in Developmental Neurometabolic Diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Olivera-Bravo S,
Isasi E,
Fernández A,
Casanova G,
Rosillo JC,
Barbeito L</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2016;949:227-243.
doi: 10.1007/978-3-319-40764-7_11.
<span class="bold">PMID: </span><a href="/pubmed/27714692" target="_blank">27714692</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23077034">Beneficial effects of αB-crystallin in spinal cord contusion injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klopstein A,
Santos-Nogueira E,
Francos-Quijorna I,
Redensek A,
David S,
Navarro X,
López-Vales R</span><br />
<span class="medgenPMjournal">J Neurosci</span>
2012 Oct 17;32(42):14478-88.
doi: 10.1523/JNEUROSCI.0923-12.2012.
<span class="bold">PMID: </span><a href="/pubmed/23077034" target="_blank">23077034</a><a href="/pmc/articles/PMC6621445" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38216970">Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng X,
Yang J,
Hou Y,
Shi X,
Liu K</span><br />
<span class="medgenPMjournal">Eur J Med Res</span>
2024 Jan 12;29(1):51.
doi: 10.1186/s40001-023-01631-4.
<span class="bold">PMID: </span><a href="/pubmed/38216970" target="_blank">38216970</a><a href="/pmc/articles/PMC10785482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36804850">Type I Alexander disease: Update and validation of the clinical evolution-based classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaia Y,
Mura E,
Tonduti D</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Mar;138(3):107540.
Epub 2023 Feb 10
doi: 10.1016/j.ymgme.2023.107540.
<span class="bold">PMID: </span><a href="/pubmed/36804850" target="_blank">36804850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32223977">Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Benzoni C,
Aquino D,
Di Bella D,
Sarto E,
Moscatelli M,
Pareyson D,
Taroni F,
Salsano E</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2020 May;75:221-223.
Epub 2020 Mar 26
doi: 10.1016/j.jocn.2020.03.033.
<span class="bold">PMID: </span><a href="/pubmed/32223977" target="_blank">32223977</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31989877">Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aksoy DÖ,
Alkan A</span><br />
<span class="medgenPMjournal">Curr Med Imaging Rev</span>
2019;15(3):255-268.
doi: 10.2174/1573405613666171123152451.
<span class="bold">PMID: </span><a href="/pubmed/31989877" target="_blank">31989877</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
Mar S</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2012;724:154-71.
doi: 10.1007/978-1-4614-0653-2_13.
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (64)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38216970">Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng X,
Yang J,
Hou Y,
Shi X,
Liu K</span><br />
<span class="medgenPMjournal">Eur J Med Res</span>
2024 Jan 12;29(1):51.
doi: 10.1186/s40001-023-01631-4.
<span class="bold">PMID: </span><a href="/pubmed/38216970" target="_blank">38216970</a><a href="/pmc/articles/PMC10785482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31682229">Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia RA,
Beltran AS,
Delic S,
Dumitru R,
Robinson JA,
Kabiraj P,
Herring LE,
Madden VJ,
Ravinder N,
Willems E,
Newman RA,
Quinlan RA,
Goldman JE,
Perng MD,
Inagaki M,
Snider NT</span><br />
<span class="medgenPMjournal">Elife</span>
2019 Nov 4;8
doi: 10.7554/eLife.47789.
<span class="bold">PMID: </span><a href="/pubmed/31682229" target="_blank">31682229</a><a href="/pmc/articles/PMC6927689" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31484723">Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heaven MR,
Wilson L,
Barnes S,
Brenner M</span><br />
<span class="medgenPMjournal">J Biol Chem</span>
2019 Oct 25;294(43):15604-15612.
Epub 2019 Sep 4
doi: 10.1074/jbc.RA119.009777.
<span class="bold">PMID: </span><a href="/pubmed/31484723" target="_blank">31484723</a><a href="/pmc/articles/PMC6816090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30620693">Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Resende LL,
de Paiva ARB,
Kok F,
da Costa Leite C,
Lucato LT</span><br />
<span class="medgenPMjournal">Radiographics</span>
2019 Jan-Feb;39(1):153-168.
doi: 10.1148/rg.2019180081.
<span class="bold">PMID: </span><a href="/pubmed/30620693" target="_blank">30620693</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16687524">Neuropathology for the neuroradiologist: Rosenthal fibers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wippold FJ 2nd,
Perry A,
Lennerz J</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2006 May;27(5):958-61.
<span class="bold">PMID: </span><a href="/pubmed/16687524" target="_blank">16687524</a><a href="/pmc/articles/PMC7975751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (74)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/39420046">A systematic review and meta-analysis of GFAP gene variants in Alexander disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grossi A,
Rosamilia F,
Carestiato S,
Salsano E,
Ceccherini I,
Bachetti T</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2024 Oct 17;14(1):24341.
doi: 10.1038/s41598-024-75383-4.
<span class="bold">PMID: </span><a href="/pubmed/39420046" target="_blank">39420046</a><a href="/pmc/articles/PMC11487261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20721574">The clinical spectrum of late-onset Alexander disease: a systematic literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Balbi P,
Salvini S,
Fundarò C,
Frazzitta G,
Maestri R,
Mosah D,
Uggetti C,
Sechi G</span><br />
<span class="medgenPMjournal">J Neurol</span>
2010 Dec;257(12):1955-62.
Epub 2010 Aug 20
doi: 10.1007/s00415-010-5706-1.
<span class="bold">PMID: </span><a href="/pubmed/20721574" target="_blank">20721574</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<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=C0270726%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
<li><a href="/gtr/tests?term=C0270726%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0270726%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (55)</a></li>
<li><a href="/gtr/tests?term=C0270726%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0270726%5bDISCUI%5d" target="_blank">See all (58)</a></total></li>
</ul></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>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=203450" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=58" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Alexander%20disease" 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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alexander%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Alexander%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and">AAP, 2021</a><div>Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</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>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=137780" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2670[geneid]" target="_blank">View GFAP variations in ClinVar</a></li><li><a href="/nuccore/197245401" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=203450" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Alexander+Disease/302" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/alexander_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Alexander%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/alexander-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5774/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Alexander%20disease" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Alexander%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78724" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=78724" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0270726[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0270726[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&amp;from_uid=78724" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=78724" ref="log$=recordlinks">OMIM</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=78724" ref="log$=recordlinks">OMIM(Genes)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=78724" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&amp;from_uid=78724" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=78724" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=78724" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb46a2a68b6b5afc34d51b">Alexander disease</a>
<div class="ralinkpop offscreen_noflow">Alexander disease<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&amp;linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb469fb15b832ebcc84c5b">C0270726[conceptid] <span class="number">(1)</span></a>
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