MYRF is associated with encephalopathy with reversible myelin vacuolization.
Identifieur interne : 000A41 ( PubMed/Corpus ); précédent : 000A40; suivant : 000A42MYRF is associated with encephalopathy with reversible myelin vacuolization.
Auteurs : Hirokazu Kurahashi ; Yoshiteru Azuma ; Akio Masuda ; Tatsuya Okuno ; Eri Nakahara ; Takuji Imamura ; Makiko Saitoh ; Masashi Mizuguchi ; Toshiaki Shimizu ; Kinji Ohno ; Akihisa OkumuraSource :
- Annals of neurology [ 1531-8249 ] ; 2018.
English descriptors
- KwdEn :
- Adolescent, Adult, Brain Diseases (diagnostic imaging), Brain Diseases (genetics), Brain Diseases (pathology), Child, Child, Preschool, Cohort Studies, Corpus Callosum (metabolism), Disease Progression, Electroencephalography, Exome (genetics), Family, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Myelin Sheath (pathology), Pedigree, Polymorphism, Single Nucleotide (genetics), Transcription Factors (genetics), Vacuoles (pathology), Young Adult.
- MESH :
- chemical , genetics : Membrane Proteins, Transcription Factors.
- diagnostic imaging : Brain Diseases.
- genetics : Brain Diseases, Exome, Polymorphism, Single Nucleotide.
- metabolism : Corpus Callosum.
- pathology : Brain Diseases, Myelin Sheath, Vacuoles.
- Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Disease Progression, Electroencephalography, Family, Humans, Magnetic Resonance Imaging, Male, Pedigree, Young Adult.
Abstract
Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.
DOI: 10.1002/ana.25125
PubMed: 29265453
Links to Exploration step
pubmed:29265453Le document en format XML
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<author><name sortKey="Masuda, Akio" sort="Masuda, Akio" uniqKey="Masuda A" first="Akio" last="Masuda">Akio Masuda</name>
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<author><name sortKey="Shimizu, Toshiaki" sort="Shimizu, Toshiaki" uniqKey="Shimizu T" first="Toshiaki" last="Shimizu">Toshiaki Shimizu</name>
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<term>Adult</term>
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<term>Brain Diseases (genetics)</term>
<term>Brain Diseases (pathology)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
<term>Corpus Callosum (metabolism)</term>
<term>Disease Progression</term>
<term>Electroencephalography</term>
<term>Exome (genetics)</term>
<term>Family</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
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<term>Membrane Proteins (genetics)</term>
<term>Myelin Sheath (pathology)</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Transcription Factors (genetics)</term>
<term>Vacuoles (pathology)</term>
<term>Young Adult</term>
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<term>Transcription Factors</term>
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<front><div type="abstract" xml:lang="en">Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">29265453</PMID>
<DateCompleted><Year>2019</Year>
<Month>01</Month>
<Day>22</Day>
</DateCompleted>
<DateRevised><Year>2019</Year>
<Month>08</Month>
<Day>28</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>83</Volume>
<Issue>1</Issue>
<PubDate><Year>2018</Year>
<Month>01</Month>
</PubDate>
</JournalIssue>
<Title>Annals of neurology</Title>
<ISOAbbreviation>Ann. Neurol.</ISOAbbreviation>
</Journal>
<ArticleTitle>MYRF is associated with encephalopathy with reversible myelin vacuolization.</ArticleTitle>
<Pagination><MedlinePgn>98-106</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.25125</ELocationID>
<Abstract><AbstractText Label="OBJECTIVE">Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.</AbstractText>
<AbstractText Label="METHODS">We examined a family in which the proband presented with a history of recurrent encephalopathy with extensive but reversible cerebral myelin vacuolization and neurological symptoms similar to those of MERS spanning 3 generations. Whole-exome sequencing was performed in family members.</AbstractText>
<AbstractText Label="RESULTS">Eight rare nonsynonymous single-nucleotide variants shared by all patients were identified. By filtering genes expressed in the corpus callosum, we identified a heterozygous c.1208A>G predicting p.Gln403Arg in the highly conserved DNA-binding domain in the myelin regulatory factor (MYRF) gene. We subsequently screened the coding regions of MYRF by Sanger sequencing in our cohort comprised of 33 sporadic cases with MERS and 3 cases in another family with extensive myelin vacuolization, and identified the same heterozygous c.1208A>G in all affected members in the second family. Luciferase assay revealed that transcriptional activity of the N-terminal region of MYRF was significantly diminished by introducing the c.1208A>G variant.</AbstractText>
<AbstractText Label="INTERPRETATION">MYRF is a transcriptional regulator that is necessary for oligodendrocyte differentiation and myelin maintenance. Functional defects of MYRF are likely to be causally associated with encephalopathy with extensive myelin vacuolization. We propose the term "MYRF-related mild encephalopathy with reversible myelin vacuolization." Our findings provide a new perspective on the pathogenesis of myelin vacuolization. Ann Neurol 2018;83:98-106.</AbstractText>
<CopyrightInformation>© 2017 American Neurological Association.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kurahashi</LastName>
<ForeName>Hirokazu</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Azuma</LastName>
<ForeName>Yoshiteru</ForeName>
<Initials>Y</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Masuda</LastName>
<ForeName>Akio</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Okuno</LastName>
<ForeName>Tatsuya</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nakahara</LastName>
<ForeName>Eri</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Imamura</LastName>
<ForeName>Takuji</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Saitoh</LastName>
<ForeName>Makiko</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mizuguchi</LastName>
<ForeName>Masashi</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Shimizu</LastName>
<ForeName>Toshiaki</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ohno</LastName>
<ForeName>Kinji</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Okumura</LastName>
<ForeName>Akihisa</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<MedlineTA>Ann Neurol</MedlineTA>
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<MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName>
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<MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName>
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<MeshHeading><DescriptorName UI="D014617" MajorTopicYN="N">Vacuoles</DescriptorName>
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