MYRF is associated with encephalopathy with reversible myelin vacuolization.
Identifieur interne : 000907 ( Main/Exploration ); précédent : 000906; suivant : 000908MYRF is associated with encephalopathy with reversible myelin vacuolization.
Auteurs : Hirokazu Kurahashi [Japon] ; Yoshiteru Azuma [Japon] ; Akio Masuda [Japon] ; Tatsuya Okuno [Japon] ; Eri Nakahara [Japon] ; Takuji Imamura [Japon] ; Makiko Saitoh [Japon] ; Masashi Mizuguchi [Japon] ; Toshiaki Shimizu [Japon] ; Kinji Ohno [Japon] ; Akihisa Okumura [Japon]Source :
- Annals of neurology [ 1531-8249 ] ; 2018.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Corps calleux (métabolisme), Encéphalopathies (anatomopathologie), Encéphalopathies (génétique), Encéphalopathies (imagerie diagnostique), Enfant, Enfant d'âge préscolaire, Exome (génétique), Facteurs de transcription (génétique), Famille, Gaine de myéline (anatomopathologie), Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Pedigree, Polymorphisme de nucléotide simple (génétique), Protéines membranaires (génétique), Vacuoles (anatomopathologie), Électroencéphalographie, Études de cohortes, Évolution de la maladie.
- MESH :
- anatomopathologie : Encéphalopathies, Gaine de myéline, Vacuoles.
- génétique : Encéphalopathies, Exome, Facteurs de transcription, Polymorphisme de nucléotide simple, Protéines membranaires.
- imagerie diagnostique : Encéphalopathies.
- métabolisme : Corps calleux.
- Adolescent, Adulte, Enfant, Enfant d'âge préscolaire, Famille, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Pedigree, Électroencéphalographie, Études de cohortes, Évolution de la maladie.
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
Affiliations:
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Le document en format XML
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xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Azuma, Yoshiteru" sort="Azuma, Yoshiteru" uniqKey="Azuma Y" first="Yoshiteru" last="Azuma">Yoshiteru Azuma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Masuda, Akio" sort="Masuda, Akio" uniqKey="Masuda A" first="Akio" last="Masuda">Akio Masuda</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, 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last="Nakahara">Eri Nakahara</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Imamura, Takuji" sort="Imamura, Takuji" uniqKey="Imamura T" first="Takuji" last="Imamura">Takuji Imamura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Saitoh, Makiko" sort="Saitoh, Makiko" uniqKey="Saitoh M" first="Makiko" last="Saitoh">Makiko Saitoh</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country 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Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2018" type="published">2018</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Brain Diseases (diagnostic imaging)</term><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><term>Male</term><term>Membrane Proteins (genetics)</term><term>Myelin Sheath (pathology)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide 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scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Encéphalopathies</term><term>Gaine de myéline</term><term>Vacuoles</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Brain Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Diseases</term><term>Exome</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Encéphalopathies</term><term>Exome</term><term>Facteurs de transcription</term><term>Polymorphisme de nucléotide simple</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Encéphalopathies</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Callosum</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Corps calleux</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain Diseases</term><term>Myelin Sheath</term><term>Vacuoles</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Disease Progression</term><term>Electroencephalography</term><term>Family</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Pedigree</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Famille</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Électroencéphalographie</term><term>Études de cohortes</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><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><affiliations><list><country><li>Japon</li></country><region><li>Région de Kantō</li></region><settlement><li>Tokyo</li></settlement><orgName><li>Université de Tokyo</li></orgName></list><tree><country name="Japon"><noRegion><name sortKey="Kurahashi, Hirokazu" sort="Kurahashi, Hirokazu" uniqKey="Kurahashi H" first="Hirokazu" last="Kurahashi">Hirokazu Kurahashi</name></noRegion><name sortKey="Azuma, Yoshiteru" sort="Azuma, Yoshiteru" uniqKey="Azuma Y" first="Yoshiteru" last="Azuma">Yoshiteru Azuma</name><name sortKey="Imamura, Takuji" sort="Imamura, Takuji" uniqKey="Imamura T" first="Takuji" last="Imamura">Takuji Imamura</name><name sortKey="Masuda, Akio" sort="Masuda, Akio" uniqKey="Masuda A" first="Akio" last="Masuda">Akio Masuda</name><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><name sortKey="Nakahara, Eri" sort="Nakahara, Eri" uniqKey="Nakahara E" first="Eri" last="Nakahara">Eri Nakahara</name><name sortKey="Ohno, Kinji" sort="Ohno, Kinji" uniqKey="Ohno K" first="Kinji" last="Ohno">Kinji Ohno</name><name sortKey="Okumura, Akihisa" sort="Okumura, Akihisa" uniqKey="Okumura A" first="Akihisa" last="Okumura">Akihisa Okumura</name><name sortKey="Okuno, Tatsuya" sort="Okuno, Tatsuya" uniqKey="Okuno T" first="Tatsuya" last="Okuno">Tatsuya Okuno</name><name sortKey="Saitoh, Makiko" sort="Saitoh, Makiko" uniqKey="Saitoh M" first="Makiko" last="Saitoh">Makiko Saitoh</name><name sortKey="Shimizu, Toshiaki" sort="Shimizu, Toshiaki" uniqKey="Shimizu T" first="Toshiaki" last="Shimizu">Toshiaki Shimizu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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