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<meta name="keywords" content="C0878575, demyelination, pathologic function, peripheral demyelination, 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 loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=451074
|
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ConceptID=C0878575
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Peripheral demyelination</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451074</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0878575</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Demyelination</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011096">HP:0011096</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>
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||
<div class="portlet_content ln">A loss of myelin from the internode regions along myelinated nerve fibers of 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 mgSection" id="ID_118">
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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>
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<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="TLline">Peripheral demyelination</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/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/871174" ref="tree=MeSH" title="MedGen record for Abnormal peripheral myelination">Abnormal peripheral myelination</a></span><ul><li><span class="matched_ds">Peripheral demyelination</span><ul><li><span class="TLline"><a href="/medgen/868206" ref="tree=MeSH" title="MedGen record for Asymmetric peripheral demyelination">Asymmetric peripheral demyelination</a></span></li><li><span class="TLline"><a href="/medgen/870523" ref="tree=MeSH" title="MedGen record for Diffuse peripheral demyelination">Diffuse peripheral demyelination</a></span></li><li><span class="TLline"><a href="/medgen/870491" ref="tree=MeSH" title="MedGen record for Segmental peripheral demyelination">Segmental peripheral demyelination</a></span></li><li><span class="TLline"><a href="/medgen/335873" ref="tree=MeSH" title="MedGen record for Segmental peripheral demyelination/remyelination">Segmental peripheral demyelination/remyelination</a></span></li><li><span class="TLline"><a href="/medgen/870468" ref="tree=MeSH" title="MedGen record for Symmetric peripheral demyelination">Symmetric peripheral demyelination</a></span><ul><li><span class="TLline"><a href="/medgen/870524" ref="tree=MeSH" title="MedGen record for Symmetrical progressive peripheral demyelination">Symmetrical progressive peripheral demyelination</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_1253"><div><strong>Abetalipoproteinaemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1253</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0000744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_3710"><div><strong>Dejerine-Sottas disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3710</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3710">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_44131"><div><strong>Galactosylceramide beta-galactosidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44131</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6071"><div><strong>Metachromatic leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile, juvenile, and adult MLD. The age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD: Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. Language, cognitive, and gross and fine motor skills regress as the disease progresses. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD: Onset is between age 30 months and 16 years. Initial manifestations include a decline in school performance and the emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD: Onset occurs after the age of 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures predominate initially. Peripheral neuropathy is common. The disease course is variable, with periods of stability interspersed with periods of decline, and may extend over two to three decades. The final stage is similar to earlier-onset forms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6071">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_52644"><div><strong>Tangier disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52644</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy, which may be either relapsing-remitting or chronic progressive in nature. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease occurring in the sixth and seventh decades of life (not usually before age 40 years), and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia. The clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbations.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/52644">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120624"><div><strong>Sphingolipid activator protein 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcohol use disorder, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline.\n\nMetachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.\n\nIn 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis.\n\nThe most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood.\n\nIn people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder.\n\nMetachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120624">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75664"><div><strong>Multiple sulfatase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75664</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation. Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75664">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75700"><div><strong>Hepatic methionine adenosyltransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75700</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities (Mudd et al., 2003; Kim et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75700">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_124377"><div><strong>Charcot-Marie-Tooth disease type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124377</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. Classification On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (118220) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal). For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (302800), CMT2A1 (118210), CMT3 (DSS; 145900), CMT4A (214400), and CMTDIB (606482). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1 Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (118220), CMT1C (601098), CMT1D (607678), CMT1E (607734), CMT1F (607734), CMT1G (618279), CMT1H (619764), CMT1I (619742), and CMT1J (620111). See also 608236 for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/124377">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373160"><div><strong>PCWH syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373160</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/373160">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_324636"><div><strong>Posterior column ataxia-retinitis pigmentosa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324636</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Retinopathy-sensory neuropathy syndrome (RETSNS) is an autosomal recessive disorder characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain). Affected individuals have noncerebellar gait ataxia, presumably due to degeneration of dorsal root ganglia in the posterior column of the spinal cord. The phenotypic manifestations and severity of the disorder are highly variable, and the age at onset can range from infancy to young adulthood. Individuals can present with either visual problems or sensory impairment with gait ataxia, but most patients eventually develop both. More severely affected individuals have congenital insensitivity to pain presenting in infancy, resulting in chronic ulceration and osteomyelitis. Autonomic abnormalities may also be apparent, consistent with hereditary sensory and autonomic neuropathy (HSAN; see, e.g., 162400). Developmental delay or impaired intellectual development is sometimes observed (Higgins et al., 1997; Grudzinska Pechhacker et al., 2020; Calame et al., 2025).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334012"><div><strong>Charcot-Marie-Tooth disease recessive intermediate A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334012</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334012">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330829"><div><strong>Autosomal dominant slowed nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330829</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330829">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375107"><div><strong>Charcot-Marie-Tooth disease type 2J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375107</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376235"><div><strong>Charcot-Marie-Tooth disease, dominant intermediate A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376235</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease, dominant intermediate-A (CMTDIA) is an autosomal dominant peripheral neuropathy characterized by onset of symptoms in the first or second decades of life. Affected individuals have difficulty walking with muscle cramps of the lower limbs; the motor symptoms may be worsened by cold. The disorder is slowly progressive, eventually involving all 4 limbs, but patients remain ambulatory. After age 40, patients develop more severe features, including distal muscle weakness and atrophy, pes cavus, areflexia, and distal sensory loss. Electrophysiologic studies yield nerve conduction velocities with 'intermediate' values between demyelinating and axonal neuropathy (see below). One such family has been reported (Rossi et al., 1985).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376235">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) Click for more information.">C1854988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<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) 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_387801"><div><strong>Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387801</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387801">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346973"><div><strong>Congenital cataracts-facial dysmorphism-neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761704"><div><strong>Charcot-Marie-Tooth disease type 4F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3540453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4F (CMT4F) is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900). 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/761704">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_766874"><div><strong>Peroxisome biogenesis disorder 8B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766874</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/766874">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_908648"><div><strong>Primary coenzyme Q10 deficiency 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Primary coenzyme Q10 deficiency-8 (COQ10D8) is characterized by a clinical spectrum ranging from spasticity or mildly progressive encephaloneuronephrocardiopathy to a fatal multisystemic disorder (Kwong et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908648">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) 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). 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_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) 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) 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_1648290"><div><strong>Charcot-Marie-Tooth disease, demyelinating, type 1G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648290</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748940</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 1G is an autosomal dominant progressive peripheral sensorimotor neuropathy characterized by distal muscle weakness and atrophy with onset in the first or second decade. Affected individuals have difficulty walking, distal sensory impairment with decreased or absent reflexes, and often have foot deformities. Median motor nerve conduction velocities (NCV) are decreased (less than 38 m/s) and sural nerve biopsy shows myelin defects and onion bulb formation (summary by Hong et al., 2016 and Motley et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1666273"><div><strong>Charcot-Marie-Tooth disease dominant intermediate F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1666273</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4749463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by Soong et al., 2013). For a discussion of genetic heterogeneity of CMTDI, see 606482.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1666273">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abetalipoproteinaemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant slowed nerve conduction velocity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1666273" 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 F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease recessive intermediate A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124377" 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 1B</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375107" 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 2J</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761704" 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 4F</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_1648290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, demyelinating, type 1G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376235" 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 A</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_346973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataracts-facial dysmorphism-neuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dejerine-Sottas disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galactosylceramide beta-galactosidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75700" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic methionine adenosyltransferase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metachromatic leukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple sulfatase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PCWH syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 8B</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_324636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior column ataxia-retinitis pigmentosa syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary coenzyme Q10 deficiency 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sphingolipid activator protein 1 deficiency</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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tangier disease</a></div></span></div></div>
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</div>
|
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|
||
<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/21876428">Neurological deficits during treatment with tumor necrosis factor-alpha antagonists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nozaki K,
|
||
Silver RM,
|
||
Stickler DE,
|
||
Abou-Fayssal NG,
|
||
Giglio P,
|
||
Kamen DL,
|
||
Daniel R,
|
||
Judson MA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2011 Nov;342(5):352-5.
|
||
doi: 10.1097/MAJ.0b013e31822b7bb8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21876428" target="_blank">21876428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22peripheral%20demyelination%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 (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36366904">Immune-mediated diseases involving central and peripheral nervous systems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leboyan A,
|
||
Esselin F,
|
||
Bascou AL,
|
||
Duflos C,
|
||
Ion I,
|
||
Charif M,
|
||
Castelnovo G,
|
||
Carra-Dalliere C,
|
||
Ayrignac X,
|
||
Kerschen P,
|
||
Chbicheb M,
|
||
Nguyen L,
|
||
Maria ATJ,
|
||
Guilpain P,
|
||
Carriere M,
|
||
de Champfleur NM,
|
||
Vincent T,
|
||
Jentzer A,
|
||
Labauge P,
|
||
Devaux JJ,
|
||
Taieb G</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Feb;30(2):490-500.
|
||
Epub 2022 Nov 27
|
||
doi: 10.1111/ene.15628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36366904" target="_blank">36366904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36257153">Peripheral neuropathy and MOG-IgG: A clinical and neuropathological retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinoto A,
|
||
Licciardi NM,
|
||
Reindl M,
|
||
Chiodega V,
|
||
Schanda K,
|
||
Carta S,
|
||
Höftberger R,
|
||
Ferrari S,
|
||
Mariotto S</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2022 Dec;68:104214.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1016/j.msard.2022.104214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36257153" target="_blank">36257153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065785">Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fumagalli F,
|
||
Calbi V,
|
||
Natali Sora MG,
|
||
Sessa M,
|
||
Baldoli C,
|
||
Rancoita PMV,
|
||
Ciotti F,
|
||
Sarzana M,
|
||
Fraschini M,
|
||
Zambon AA,
|
||
Acquati S,
|
||
Redaelli D,
|
||
Attanasio V,
|
||
Miglietta S,
|
||
De Mattia F,
|
||
Barzaghi F,
|
||
Ferrua F,
|
||
Migliavacca M,
|
||
Tucci F,
|
||
Gallo V,
|
||
Del Carro U,
|
||
Canale S,
|
||
Spiga I,
|
||
Lorioli L,
|
||
Recupero S,
|
||
Fratini ES,
|
||
Morena F,
|
||
Silvani P,
|
||
Calvi MR,
|
||
Facchini M,
|
||
Locatelli S,
|
||
Corti A,
|
||
Zancan S,
|
||
Antonioli G,
|
||
Farinelli G,
|
||
Gabaldo M,
|
||
Garcia-Segovia J,
|
||
Schwab LC,
|
||
Downey GF,
|
||
Filippi M,
|
||
Cicalese MP,
|
||
Martino S,
|
||
Di Serio C,
|
||
Ciceri F,
|
||
Bernardo ME,
|
||
Naldini L,
|
||
Biffi A,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 22;399(10322):372-383.
|
||
doi: 10.1016/S0140-6736(21)02017-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065785" target="_blank">35065785</a><a href="/pmc/articles/PMC8795071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27000248">Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese A,
|
||
Franciotta D,
|
||
Alfonsi E,
|
||
Visigalli N,
|
||
Zardini E,
|
||
Diamanti L,
|
||
Prunetti P,
|
||
Osera C,
|
||
Gastaldi M,
|
||
Berzero G,
|
||
Pichiecchio A,
|
||
Piccolo G,
|
||
Lozza A,
|
||
Piscosquito G,
|
||
Salsano E,
|
||
Ceroni M,
|
||
Moglia A,
|
||
Bono G,
|
||
Pareyson D,
|
||
Marchioni E</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2016 Apr 15;363:182-7.
|
||
Epub 2016 Feb 10
|
||
doi: 10.1016/j.jns.2016.02.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27000248" target="_blank">27000248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25908550">Diagnostic utility of somatosensory evoked potentials in chronic polyradiculopathy without electrodiagnostic signs of peripheral demyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devic P,
|
||
Petiot P,
|
||
Mauguiere F</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2016 Jan;53(1):78-83.
|
||
Epub 2015 Nov 26
|
||
doi: 10.1002/mus.24693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25908550" target="_blank">25908550</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peripheral%20demyelination%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35314490">Combined Central and Peripheral Demyelination With IgM Anti-Neurofascin 155 Antibodies: Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pegat A,
|
||
Delmont E,
|
||
Svahn J,
|
||
Bernard E,
|
||
Lessard L,
|
||
Marignier R,
|
||
Bouhour F</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2022 May;9(3)
|
||
Epub 2022 Mar 21
|
||
doi: 10.1212/NXI.0000000000001160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35314490" target="_blank">35314490</a><a href="/pmc/articles/PMC8936685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065785">Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fumagalli F,
|
||
Calbi V,
|
||
Natali Sora MG,
|
||
Sessa M,
|
||
Baldoli C,
|
||
Rancoita PMV,
|
||
Ciotti F,
|
||
Sarzana M,
|
||
Fraschini M,
|
||
Zambon AA,
|
||
Acquati S,
|
||
Redaelli D,
|
||
Attanasio V,
|
||
Miglietta S,
|
||
De Mattia F,
|
||
Barzaghi F,
|
||
Ferrua F,
|
||
Migliavacca M,
|
||
Tucci F,
|
||
Gallo V,
|
||
Del Carro U,
|
||
Canale S,
|
||
Spiga I,
|
||
Lorioli L,
|
||
Recupero S,
|
||
Fratini ES,
|
||
Morena F,
|
||
Silvani P,
|
||
Calvi MR,
|
||
Facchini M,
|
||
Locatelli S,
|
||
Corti A,
|
||
Zancan S,
|
||
Antonioli G,
|
||
Farinelli G,
|
||
Gabaldo M,
|
||
Garcia-Segovia J,
|
||
Schwab LC,
|
||
Downey GF,
|
||
Filippi M,
|
||
Cicalese MP,
|
||
Martino S,
|
||
Di Serio C,
|
||
Ciceri F,
|
||
Bernardo ME,
|
||
Naldini L,
|
||
Biffi A,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 22;399(10322):372-383.
|
||
doi: 10.1016/S0140-6736(21)02017-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065785" target="_blank">35065785</a><a href="/pmc/articles/PMC8795071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31958671">A case of combined central and peripheral demyelination in Zambia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">George IC,
|
||
Kvalsund M,
|
||
Saylor D</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2020 May;40:101943.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1016/j.msard.2020.101943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31958671" target="_blank">31958671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582947">Anti-neurofascin autoantibody and demyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kira JI,
|
||
Yamasaki R,
|
||
Ogata H</span><br />
|
||
<span class="medgenPMjournal">Neurochem Int</span>
|
||
2019 Nov;130:104360.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1016/j.neuint.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582947" target="_blank">30582947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/581151">Diabetic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slager UT</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
1978 Sep;102(9):467-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/581151" target="_blank">581151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peripheral%20demyelination%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065785">Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fumagalli F,
|
||
Calbi V,
|
||
Natali Sora MG,
|
||
Sessa M,
|
||
Baldoli C,
|
||
Rancoita PMV,
|
||
Ciotti F,
|
||
Sarzana M,
|
||
Fraschini M,
|
||
Zambon AA,
|
||
Acquati S,
|
||
Redaelli D,
|
||
Attanasio V,
|
||
Miglietta S,
|
||
De Mattia F,
|
||
Barzaghi F,
|
||
Ferrua F,
|
||
Migliavacca M,
|
||
Tucci F,
|
||
Gallo V,
|
||
Del Carro U,
|
||
Canale S,
|
||
Spiga I,
|
||
Lorioli L,
|
||
Recupero S,
|
||
Fratini ES,
|
||
Morena F,
|
||
Silvani P,
|
||
Calvi MR,
|
||
Facchini M,
|
||
Locatelli S,
|
||
Corti A,
|
||
Zancan S,
|
||
Antonioli G,
|
||
Farinelli G,
|
||
Gabaldo M,
|
||
Garcia-Segovia J,
|
||
Schwab LC,
|
||
Downey GF,
|
||
Filippi M,
|
||
Cicalese MP,
|
||
Martino S,
|
||
Di Serio C,
|
||
Ciceri F,
|
||
Bernardo ME,
|
||
Naldini L,
|
||
Biffi A,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 22;399(10322):372-383.
|
||
doi: 10.1016/S0140-6736(21)02017-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065785" target="_blank">35065785</a><a href="/pmc/articles/PMC8795071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34595962">The clinical features of combined central and peripheral demyelination and antibodies against the node of Ranvier.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou X,
|
||
Liang Y,
|
||
Cui P,
|
||
Hao J</span><br />
|
||
<span class="medgenPMjournal">Mult Scler</span>
|
||
2022 Mar;28(3):453-462.
|
||
Epub 2021 Oct 1
|
||
doi: 10.1177/13524585211028126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34595962" target="_blank">34595962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31958671">A case of combined central and peripheral demyelination in Zambia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">George IC,
|
||
Kvalsund M,
|
||
Saylor D</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2020 May;40:101943.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1016/j.msard.2020.101943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31958671" target="_blank">31958671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22975565">Acute combined central and peripheral demyelination showing anti-aquaporin 4 antibody positivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kitada M,
|
||
Suzuki H,
|
||
Ichihashi J,
|
||
Inada R,
|
||
Miyamoto K,
|
||
Takahashi T,
|
||
Mitsui Y,
|
||
Fujihara K,
|
||
Kusunoki S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2012;51(17):2443-7.
|
||
Epub 2012 Sep 1
|
||
doi: 10.2169/internalmedicine.51.7590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22975565" target="_blank">22975565</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=%22Peripheral%20demyelination%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/36366904">Immune-mediated diseases involving central and peripheral nervous systems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leboyan A,
|
||
Esselin F,
|
||
Bascou AL,
|
||
Duflos C,
|
||
Ion I,
|
||
Charif M,
|
||
Castelnovo G,
|
||
Carra-Dalliere C,
|
||
Ayrignac X,
|
||
Kerschen P,
|
||
Chbicheb M,
|
||
Nguyen L,
|
||
Maria ATJ,
|
||
Guilpain P,
|
||
Carriere M,
|
||
de Champfleur NM,
|
||
Vincent T,
|
||
Jentzer A,
|
||
Labauge P,
|
||
Devaux JJ,
|
||
Taieb G</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Feb;30(2):490-500.
|
||
Epub 2022 Nov 27
|
||
doi: 10.1111/ene.15628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36366904" target="_blank">36366904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36567843">Combined central and peripheral demyelination: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costru-Tasnic E,
|
||
Manole E,
|
||
Lisnic V</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2022 Nov;15(11):1442-1448.
|
||
doi: 10.25122/jml-2022-0010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36567843" target="_blank">36567843</a><a href="/pmc/articles/PMC9762372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065785">Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fumagalli F,
|
||
Calbi V,
|
||
Natali Sora MG,
|
||
Sessa M,
|
||
Baldoli C,
|
||
Rancoita PMV,
|
||
Ciotti F,
|
||
Sarzana M,
|
||
Fraschini M,
|
||
Zambon AA,
|
||
Acquati S,
|
||
Redaelli D,
|
||
Attanasio V,
|
||
Miglietta S,
|
||
De Mattia F,
|
||
Barzaghi F,
|
||
Ferrua F,
|
||
Migliavacca M,
|
||
Tucci F,
|
||
Gallo V,
|
||
Del Carro U,
|
||
Canale S,
|
||
Spiga I,
|
||
Lorioli L,
|
||
Recupero S,
|
||
Fratini ES,
|
||
Morena F,
|
||
Silvani P,
|
||
Calvi MR,
|
||
Facchini M,
|
||
Locatelli S,
|
||
Corti A,
|
||
Zancan S,
|
||
Antonioli G,
|
||
Farinelli G,
|
||
Gabaldo M,
|
||
Garcia-Segovia J,
|
||
Schwab LC,
|
||
Downey GF,
|
||
Filippi M,
|
||
Cicalese MP,
|
||
Martino S,
|
||
Di Serio C,
|
||
Ciceri F,
|
||
Bernardo ME,
|
||
Naldini L,
|
||
Biffi A,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 22;399(10322):372-383.
|
||
doi: 10.1016/S0140-6736(21)02017-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065785" target="_blank">35065785</a><a href="/pmc/articles/PMC8795071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34595962">The clinical features of combined central and peripheral demyelination and antibodies against the node of Ranvier.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou X,
|
||
Liang Y,
|
||
Cui P,
|
||
Hao J</span><br />
|
||
<span class="medgenPMjournal">Mult Scler</span>
|
||
2022 Mar;28(3):453-462.
|
||
Epub 2021 Oct 1
|
||
doi: 10.1177/13524585211028126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34595962" target="_blank">34595962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27000248">Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese A,
|
||
Franciotta D,
|
||
Alfonsi E,
|
||
Visigalli N,
|
||
Zardini E,
|
||
Diamanti L,
|
||
Prunetti P,
|
||
Osera C,
|
||
Gastaldi M,
|
||
Berzero G,
|
||
Pichiecchio A,
|
||
Piccolo G,
|
||
Lozza A,
|
||
Piscosquito G,
|
||
Salsano E,
|
||
Ceroni M,
|
||
Moglia A,
|
||
Bono G,
|
||
Pareyson D,
|
||
Marchioni E</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2016 Apr 15;363:182-7.
|
||
Epub 2016 Feb 10
|
||
doi: 10.1016/j.jns.2016.02.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27000248" target="_blank">27000248</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peripheral%20demyelination%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37079994">Anti-Lactosylceramide antibody positive combined central peripheral demyelination emerging from long-standing juvenile-onset chronic inflammatory polyradiculoneuropathy; a report of two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takegami N,
|
||
Sakuishi K,
|
||
Yamaguchi-Takegami N,
|
||
Egashira S,
|
||
Komaki S,
|
||
Mutoh T,
|
||
Toda T</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2023 May 15;378:578086.
|
||
Epub 2023 Apr 11
|
||
doi: 10.1016/j.jneuroim.2023.578086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37079994" target="_blank">37079994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065785">Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fumagalli F,
|
||
Calbi V,
|
||
Natali Sora MG,
|
||
Sessa M,
|
||
Baldoli C,
|
||
Rancoita PMV,
|
||
Ciotti F,
|
||
Sarzana M,
|
||
Fraschini M,
|
||
Zambon AA,
|
||
Acquati S,
|
||
Redaelli D,
|
||
Attanasio V,
|
||
Miglietta S,
|
||
De Mattia F,
|
||
Barzaghi F,
|
||
Ferrua F,
|
||
Migliavacca M,
|
||
Tucci F,
|
||
Gallo V,
|
||
Del Carro U,
|
||
Canale S,
|
||
Spiga I,
|
||
Lorioli L,
|
||
Recupero S,
|
||
Fratini ES,
|
||
Morena F,
|
||
Silvani P,
|
||
Calvi MR,
|
||
Facchini M,
|
||
Locatelli S,
|
||
Corti A,
|
||
Zancan S,
|
||
Antonioli G,
|
||
Farinelli G,
|
||
Gabaldo M,
|
||
Garcia-Segovia J,
|
||
Schwab LC,
|
||
Downey GF,
|
||
Filippi M,
|
||
Cicalese MP,
|
||
Martino S,
|
||
Di Serio C,
|
||
Ciceri F,
|
||
Bernardo ME,
|
||
Naldini L,
|
||
Biffi A,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 22;399(10322):372-383.
|
||
doi: 10.1016/S0140-6736(21)02017-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065785" target="_blank">35065785</a><a href="/pmc/articles/PMC8795071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34595962">The clinical features of combined central and peripheral demyelination and antibodies against the node of Ranvier.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou X,
|
||
Liang Y,
|
||
Cui P,
|
||
Hao J</span><br />
|
||
<span class="medgenPMjournal">Mult Scler</span>
|
||
2022 Mar;28(3):453-462.
|
||
Epub 2021 Oct 1
|
||
doi: 10.1177/13524585211028126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34595962" target="_blank">34595962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27000248">Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese A,
|
||
Franciotta D,
|
||
Alfonsi E,
|
||
Visigalli N,
|
||
Zardini E,
|
||
Diamanti L,
|
||
Prunetti P,
|
||
Osera C,
|
||
Gastaldi M,
|
||
Berzero G,
|
||
Pichiecchio A,
|
||
Piccolo G,
|
||
Lozza A,
|
||
Piscosquito G,
|
||
Salsano E,
|
||
Ceroni M,
|
||
Moglia A,
|
||
Bono G,
|
||
Pareyson D,
|
||
Marchioni E</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2016 Apr 15;363:182-7.
|
||
Epub 2016 Feb 10
|
||
doi: 10.1016/j.jns.2016.02.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27000248" target="_blank">27000248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12771272">Contrasting effects of IFNbeta and IVIG in children with central and peripheral demyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pirko I,
|
||
Kuntz NL,
|
||
Patterson M,
|
||
Keegan BM,
|
||
Weinshenker BG,
|
||
Rodriguez M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2003 May 27;60(10):1697-9.
|
||
doi: 10.1212/01.wnl.0000064163.94122.eb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12771272" target="_blank">12771272</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peripheral%20demyelination%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 (23)</a></div></div>
|
||
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Peripheral%20demyelination" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22peripheral%20demyelination%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></ul></div>
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