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<meta name="keywords" content="C1832338, axonal loss, finding, 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="A reduction in the number of axons in the peripheral nervous system." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Axonal loss (Concept Id: C1832338)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Axonal loss</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316962</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.">C1832338</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003447">HP:0003447</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A reduction in the number of axons in the peripheral nervous system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Axonal loss</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892389" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system morphology">Abnormal peripheral nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871339" ref="tree=MeSH" title="MedGen record for Peripheral axonal degeneration">Peripheral axonal degeneration</a></span><ul><li><span class="matched_ds">Axonal loss</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_371304"><div><strong>Charcot-Marie-Tooth disease type 4D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371304</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.">C1832334</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014).&#13; For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371304">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_381530"><div><strong>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381530</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.">C1854988</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381530">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340760"><div><strong>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340760</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.">C1854989</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340760">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349136"><div><strong>Cerebellar ataxia, benign, with thermoanalgesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349136</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.">C1859303</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349136">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370808"><div><strong>Charcot-Marie-Tooth disease type 4J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370808</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.">C1970011</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4J (CMT4J) is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011).&#13; For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370808">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_414119"><div><strong>Myofibrillar myopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414119</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.">C2751831</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by Jaffer et al., 2012).&#13; For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/414119">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477090"><div><strong>Amyotrophic lateral sclerosis type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477090</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.">C3275459</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477090">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482853"><div><strong>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482853</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.">C3281223</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482853">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501212"><div><strong>Charcot-Marie-Tooth disease type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501212</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.">C3495591</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the &lt;i&gt;PMP22&lt;/i&gt; (17p12) gene. The disease severity depends on the particular &lt;i&gt;PMP22&lt;/i&gt; mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501212">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_907910"><div><strong>Spinal muscular atrophy with congenital bone fractures 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907910</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.">C4225176</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016).&#13; For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/907910">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_896011"><div><strong>Spinal muscular atrophy with congenital bone fractures 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896011</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.">C4225177</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016).&#13; Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures&#13; See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/896011">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_895560"><div><strong>Charcot-Marie-Tooth disease type 4K</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895560</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.">C4225246</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4K (CMT4K) is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by Echaniz-Laguna et al., 2013).&#13; For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/895560">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_928336"><div><strong>Charcot-Marie-Tooth disease dominant intermediate E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>928336</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.">C4302667</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011).&#13; Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene.&#13; For a discussion of genetic heterogeneity of CMTDI, see 606482.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/928336">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1626007"><div><strong>Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626007</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.">C4540086</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Childhood-onset neurodegeneration with brain atrophy (CONDBA) is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1626007">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648386"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648386</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.">C4721893</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1.. The latent stage is characterized by normal early development. 2.. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3.. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social issues. 4.. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648386">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648391"><div><strong>Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648391</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.">C4748527</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648391">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824000"><div><strong>Charcot-Marie-Tooth disease, axonal, IIa 2II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824000</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.">C5774227</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2II (CMT2II) is an autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Some patients may have upper limb involvement with atrophy of the intrinsic hand muscles. The age at onset is highly variable, ranging from infancy to adulthood. Electrophysiologic studies are usually consistent with an axonal process, although some may show intermediate or even demyelinating values (Park et al., 2020; Ando et al., 2022). One family with possible autosomal recessive inheritance has been reported (Bogdanova-Mihaylova et al., 2021).&#13; For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824000">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 15</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, benign, with thermoanalgesia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_928336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease dominant intermediate E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 1E</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4D</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4J</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4K</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, axonal, IIa 2II</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1626007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</a></div></span></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/27794524">Progressive multiple sclerosis: from pathogenic mechanisms to treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Correale J,
Gaitán MI,
Ysrraelit MC,
Fiol MP</span><br />
<span class="medgenPMjournal">Brain</span>
2017 Mar 1;140(3):527-546.
doi: 10.1093/brain/aww258.
<span class="bold">PMID: </span><a href="/pubmed/27794524" target="_blank">27794524</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24424194">Revised diagnostic criteria of multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Milo R,
Miller A</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2014 Apr-May;13(4-5):518-24.
Epub 2014 Jan 12
doi: 10.1016/j.autrev.2014.01.012.
<span class="bold">PMID: </span><a href="/pubmed/24424194" target="_blank">24424194</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10606809">The contribution of magnetic resonance imaging in the differential diagnosis of the damage of the cerebral hemispheres.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grossman RI,
Kappos L,
Wolinsky JS</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2000 Jan 15;172 Suppl 1:S57-62.
doi: 10.1016/s0022-510x(99)00281-6.
<span class="bold">PMID: </span><a href="/pubmed/10606809" target="_blank">10606809</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22axonal%20loss%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 (58)</a></div></div>
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<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
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<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/37788681">Neuroprognostication: Guillain-Barré Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Traub R,
Chaudhry V</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2023 Oct;43(5):791-798.
Epub 2023 Oct 3
doi: 10.1055/s-0043-1775750.
<span class="bold">PMID: </span><a href="/pubmed/37788681" target="_blank">37788681</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36165292">Diversified Treatment Options of Adult Stem Cells for Optic Neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan S,
Yao Y,
Yang Q,
Yuan XL,
Cen LP,
Ng TK</span><br />
<span class="medgenPMjournal">Cell Transplant</span>
2022 Jan-Dec;31:9636897221123512.
doi: 10.1177/09636897221123512.
<span class="bold">PMID: </span><a href="/pubmed/36165292" target="_blank">36165292</a><a href="/pmc/articles/PMC9523835" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35502756">Axonal injury in asymptomatic individuals preceding onset of multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jons D,
Zetterberg H,
Biström M,
Alonso-Magdalena L,
Gunnarsson M,
Vrethem M,
Blennow K,
Nilsson S,
Sundström P,
Andersen O</span><br />
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
2022 Jun;9(6):882-887.
Epub 2022 May 3
doi: 10.1002/acn3.51568.
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<div class="nl"><a target="_blank" href="/pubmed/24366527">The neuropathology of sport.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKee AC,
Daneshvar DH,
Alvarez VE,
Stein TD</span><br />
<span class="medgenPMjournal">Acta Neuropathol</span>
2014 Jan;127(1):29-51.
Epub 2013 Dec 24
doi: 10.1007/s00401-013-1230-6.
<span class="bold">PMID: </span><a href="/pubmed/24366527" target="_blank">24366527</a><a href="/pmc/articles/PMC4255282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18970977">Multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Compston A,
Coles A</span><br />
<span class="medgenPMjournal">Lancet</span>
2008 Oct 25;372(9648):1502-17.
doi: 10.1016/S0140-6736(08)61620-7.
<span class="bold">PMID: </span><a href="/pubmed/18970977" target="_blank">18970977</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (500)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36786097">Diabetic peripheral neuropathy essentials: a narrative review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chang MC,
Yang S</span><br />
<span class="medgenPMjournal">Ann Palliat Med</span>
2023 Mar;12(2):390-398.
Epub 2023 Feb 8
doi: 10.21037/apm-22-693.
<span class="bold">PMID: </span><a href="/pubmed/36786097" target="_blank">36786097</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27794524">Progressive multiple sclerosis: from pathogenic mechanisms to treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Correale J,
Gaitán MI,
Ysrraelit MC,
Fiol MP</span><br />
<span class="medgenPMjournal">Brain</span>
2017 Mar 1;140(3):527-546.
doi: 10.1093/brain/aww258.
<span class="bold">PMID: </span><a href="/pubmed/27794524" target="_blank">27794524</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24366527">The neuropathology of sport.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKee AC,
Daneshvar DH,
Alvarez VE,
Stein TD</span><br />
<span class="medgenPMjournal">Acta Neuropathol</span>
2014 Jan;127(1):29-51.
Epub 2013 Dec 24
doi: 10.1007/s00401-013-1230-6.
<span class="bold">PMID: </span><a href="/pubmed/24366527" target="_blank">24366527</a><a href="/pmc/articles/PMC4255282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24331795">Optic neuritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toosy AT,
Mason DF,
Miller DH</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2014 Jan;13(1):83-99.
doi: 10.1016/S1474-4422(13)70259-X.
<span class="bold">PMID: </span><a href="/pubmed/24331795" target="_blank">24331795</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18970977">Multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Compston A,
Coles A</span><br />
<span class="medgenPMjournal">Lancet</span>
2008 Oct 25;372(9648):1502-17.
doi: 10.1016/S0140-6736(08)61620-7.
<span class="bold">PMID: </span><a href="/pubmed/18970977" target="_blank">18970977</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (566)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38877721">Neuroaxonal damage in natalizumab-treated MS patients: The role of JCV antibody titres.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dalla Costa G,
Leocani L,
Pisa M,
Croese T,
Martinelli V,
Moiola L,
Sangalli F,
Colombo B,
Haghikia A,
Gold R,
Furlan R,
Comi G</span><br />
<span class="medgenPMjournal">Mult Scler</span>
2024 Oct;30(11-12):1561-1565.
Epub 2024 Jun 14
doi: 10.1177/13524585241260977.
<span class="bold">PMID: </span><a href="/pubmed/38877721" target="_blank">38877721</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34766257">Update on Intravenous Immunoglobulin in Neurology: Modulating Neuro-autoimmunity, Evolving Factors on Efficacy and Dosing and Challenges on Stopping Chronic IVIg Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dalakas MC</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2021 Oct;18(4):2397-2418.
Epub 2021 Nov 11
doi: 10.1007/s13311-021-01108-4.
<span class="bold">PMID: </span><a href="/pubmed/34766257" target="_blank">34766257</a><a href="/pmc/articles/PMC8585501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25929276">Retinal axonal loss in very early stages of multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maghzi AH,
Graves J,
Revirajan N,
Spain R,
Liu S,
McCulloch CE,
Pelletier D,
Green AJ,
Waubant E</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2015 Jul;22(7):1138-41.
Epub 2015 Apr 29
doi: 10.1111/ene.12722.
<span class="bold">PMID: </span><a href="/pubmed/25929276" target="_blank">25929276</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23892629">Paraneoplastic neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Graus F,
Dalmau J</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2013 Oct;26(5):489-95.
doi: 10.1097/WCO.0b013e328364c020.
<span class="bold">PMID: </span><a href="/pubmed/23892629" target="_blank">23892629</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16775377">Animal models of Charcot-Marie-Tooth disease type 1A.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sereda MW,
Nave KA</span><br />
<span class="medgenPMjournal">Neuromolecular Med</span>
2006;8(1-2):205-16.
doi: 10.1385/nmm:8:1-2:205.
<span class="bold">PMID: </span><a href="/pubmed/16775377" target="_blank">16775377</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (277)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37788681">Neuroprognostication: Guillain-Barré Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Traub R,
Chaudhry V</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2023 Oct;43(5):791-798.
Epub 2023 Oct 3
doi: 10.1055/s-0043-1775750.
<span class="bold">PMID: </span><a href="/pubmed/37788681" target="_blank">37788681</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32555340">The human motor cortex microcircuit: insights for neurodegenerative disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McColgan P,
Joubert J,
Tabrizi SJ,
Rees G</span><br />
<span class="medgenPMjournal">Nat Rev Neurosci</span>
2020 Aug;21(8):401-415.
Epub 2020 Jun 18
doi: 10.1038/s41583-020-0315-1.
<span class="bold">PMID: </span><a href="/pubmed/32555340" target="_blank">32555340</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23208308">The spectrum of disease in chronic traumatic encephalopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKee AC,
Stern RA,
Nowinski CJ,
Stein TD,
Alvarez VE,
Daneshvar DH,
Lee HS,
Wojtowicz SM,
Hall G,
Baugh CM,
Riley DO,
Kubilus CA,
Cormier KA,
Jacobs MA,
Martin BR,
Abraham CR,
Ikezu T,
Reichard RR,
Wolozin BL,
Budson AE,
Goldstein LE,
Kowall NW,
Cantu RC</span><br />
<span class="medgenPMjournal">Brain</span>
2013 Jan;136(Pt 1):43-64.
Epub 2012 Dec 2
doi: 10.1093/brain/aws307.
<span class="bold">PMID: </span><a href="/pubmed/23208308" target="_blank">23208308</a><a href="/pmc/articles/PMC3624697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18970977">Multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Compston A,
Coles A</span><br />
<span class="medgenPMjournal">Lancet</span>
2008 Oct 25;372(9648):1502-17.
doi: 10.1016/S0140-6736(08)61620-7.
<span class="bold">PMID: </span><a href="/pubmed/18970977" target="_blank">18970977</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10393746">Distal median neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Preston DC</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
1999 Aug;17(3):407-24, v.
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<span class="bold">PMID: </span><a href="/pubmed/10393746" target="_blank">10393746</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (344)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38446903">B cell depletion with anti-CD20 promotes neuroprotection in a BAFF-dependent manner in mice and humans.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang AA,
Luessi F,
Neziraj T,
Pössnecker E,
Zuo M,
Engel S,
Hanuscheck N,
Florescu A,
Bugbee E,
Ma XI,
Rana F,
Lee D,
Ward LA,
Kuhle J,
Himbert J,
Schraad M,
van Puijenbroek E,
Klein C,
Urich E,
Ramaglia V,
Pröbstel AK,
Zipp F,
Gommerman JL</span><br />
<span class="medgenPMjournal">Sci Transl Med</span>
2024 Mar 6;16(737):eadi0295.
doi: 10.1126/scitranslmed.adi0295.
<span class="bold">PMID: </span><a href="/pubmed/38446903" target="_blank">38446903</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37788681">Neuroprognostication: Guillain-Barré Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Traub R,
Chaudhry V</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2023 Oct;43(5):791-798.
Epub 2023 Oct 3
doi: 10.1055/s-0043-1775750.
<span class="bold">PMID: </span><a href="/pubmed/37788681" target="_blank">37788681</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23208308">The spectrum of disease in chronic traumatic encephalopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKee AC,
Stern RA,
Nowinski CJ,
Stein TD,
Alvarez VE,
Daneshvar DH,
Lee HS,
Wojtowicz SM,
Hall G,
Baugh CM,
Riley DO,
Kubilus CA,
Cormier KA,
Jacobs MA,
Martin BR,
Abraham CR,
Ikezu T,
Reichard RR,
Wolozin BL,
Budson AE,
Goldstein LE,
Kowall NW,
Cantu RC</span><br />
<span class="medgenPMjournal">Brain</span>
2013 Jan;136(Pt 1):43-64.
Epub 2012 Dec 2
doi: 10.1093/brain/aws307.
<span class="bold">PMID: </span><a href="/pubmed/23208308" target="_blank">23208308</a><a href="/pmc/articles/PMC3624697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20637863">Contribution of CD8 T lymphocytes to the immuno-pathogenesis of multiple sclerosis and its animal models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mars LT,
Saikali P,
Liblau RS,
Arbour N</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta</span>
2011 Feb;1812(2):151-61.
Epub 2010 Jul 15
doi: 10.1016/j.bbadis.2010.07.006.
<span class="bold">PMID: </span><a href="/pubmed/20637863" target="_blank">20637863</a><a href="/pmc/articles/PMC5052066" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17644768">Remyelination of the central nervous system: a valuable contribution from the periphery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zujovic V,
Bachelin C,
Baron-Van Evercooren A</span><br />
<span class="medgenPMjournal">Neuroscientist</span>
2007 Aug;13(4):383-91.
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<span class="bold">PMID: </span><a href="/pubmed/17644768" target="_blank">17644768</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (466)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37985645">Cell replacement therapy with stem cells in multiple sclerosis, a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Christodoulou MV,
Petkou E,
Atzemoglou N,
Gkorla E,
Karamitrou A,
Simos YV,
Bellos S,
Bekiari C,
Kouklis P,
Konitsiotis S,
Vezyraki P,
Peschos D,
Tsamis KI</span><br />
<span class="medgenPMjournal">Hum Cell</span>
2024 Jan;37(1):9-53.
Epub 2023 Nov 21
doi: 10.1007/s13577-023-01006-1.
<span class="bold">PMID: </span><a href="/pubmed/37985645" target="_blank">37985645</a><a href="/pmc/articles/PMC10764451" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32172997">Correlation between EDSS scores and cervical spinal cord atrophy at 3T MRI in multiple sclerosis: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Song X,
Li D,
Qiu Z,
Su S,
Wu Y,
Wang J,
Liu Z,
Dong H</span><br />
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
2020 Jan;37:101426.
Epub 2019 Oct 1
doi: 10.1016/j.msard.2019.101426.
<span class="bold">PMID: </span><a href="/pubmed/32172997" target="_blank">32172997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31356219">Systematic review of magnetic resonance imaging for diagnosis of Meniere disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Escamez JA,
Attyé A</span><br />
<span class="medgenPMjournal">J Vestib Res</span>
2019;29(2-3):121-129.
doi: 10.3233/VES-180646.
<span class="bold">PMID: </span><a href="/pubmed/31356219" target="_blank">31356219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26488634">Potential role of immunoglobulin replacement therapy on MRI measures in multiple sclerosis: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zare-Shahabadi A,
Rashidian A,
Sahraian MA,
Rezaei N</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2015;11(12):1291-5.
Epub 2015 Oct 21
doi: 10.1586/1744666X.2015.1102059.
<span class="bold">PMID: </span><a href="/pubmed/26488634" target="_blank">26488634</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20935330">Heterogeneity of small vessel disease: a systematic review of MRI and histopathology correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gouw AA,
Seewann A,
van der Flier WM,
Barkhof F,
Rozemuller AM,
Scheltens P,
Geurts JJ</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2011 Feb;82(2):126-35.
Epub 2010 Oct 9
doi: 10.1136/jnnp.2009.204685.
<span class="bold">PMID: </span><a href="/pubmed/20935330" target="_blank">20935330</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axonal%20loss%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 (7)</a></div></div>
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