Lewy body pathology in a patient with a homozygous parkin deletion.
Identifieur interne : 000932 ( Main/Exploration ); précédent : 000931; suivant : 000933Lewy body pathology in a patient with a homozygous parkin deletion.
Auteurs : Saori Miyakawa [Japon] ; Mieko Ogino ; Sayaka Funabe ; Akiko Uchino ; Yasushi Shimo ; Nobutaka Hattori ; Masaaki Ichinoe ; Tetuo Mikami ; Makoto Saegusa ; Kazutoshi Nishiyama ; Hideo Mori ; Yoshikuni Mizuno ; Shigeo Murayama ; Hideki MochizukiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Aged, Exons (genetics), Female, Gene Deletion, Homozygote, Humans, Lewy Bodies (genetics), Lewy Bodies (pathology), Lewy Body Disease (genetics), Lewy Body Disease (pathology), Magnetic Resonance Imaging, Neurons (pathology), Substantia Nigra (pathology), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (metabolism).
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- genetics : Exons, Lewy Bodies, Lewy Body Disease.
- chemical , metabolism : alpha-Synuclein.
- pathology : Lewy Bodies, Lewy Body Disease, Neurons, Substantia Nigra.
- Aged, Female, Gene Deletion, Homozygote, Humans, Magnetic Resonance Imaging.
Abstract
We report neuropathologic findings in a patient with homozygous deletions of exons 2 to 4 of parkin.
DOI: 10.1002/mds.25346
PubMed: 23401296
Affiliations:
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Le document en format XML
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<author><name sortKey="Miyakawa, Saori" sort="Miyakawa, Saori" uniqKey="Miyakawa S" first="Saori" last="Miyakawa">Saori Miyakawa</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Kitasato University School of Medicine, Kanagawa, Japan. saomiya@med.kitasato-u.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Kitasato University School of Medicine, Kanagawa</wicri:regionArea>
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<author><name sortKey="Ogino, Mieko" sort="Ogino, Mieko" uniqKey="Ogino M" first="Mieko" last="Ogino">Mieko Ogino</name>
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<author><name sortKey="Funabe, Sayaka" sort="Funabe, Sayaka" uniqKey="Funabe S" first="Sayaka" last="Funabe">Sayaka Funabe</name>
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<author><name sortKey="Uchino, Akiko" sort="Uchino, Akiko" uniqKey="Uchino A" first="Akiko" last="Uchino">Akiko Uchino</name>
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<author><name sortKey="Shimo, Yasushi" sort="Shimo, Yasushi" uniqKey="Shimo Y" first="Yasushi" last="Shimo">Yasushi Shimo</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Ichinoe, Masaaki" sort="Ichinoe, Masaaki" uniqKey="Ichinoe M" first="Masaaki" last="Ichinoe">Masaaki Ichinoe</name>
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<author><name sortKey="Mikami, Tetuo" sort="Mikami, Tetuo" uniqKey="Mikami T" first="Tetuo" last="Mikami">Tetuo Mikami</name>
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<author><name sortKey="Saegusa, Makoto" sort="Saegusa, Makoto" uniqKey="Saegusa M" first="Makoto" last="Saegusa">Makoto Saegusa</name>
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<author><name sortKey="Murayama, Shigeo" sort="Murayama, Shigeo" uniqKey="Murayama S" first="Shigeo" last="Murayama">Shigeo Murayama</name>
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<author><name sortKey="Miyakawa, Saori" sort="Miyakawa, Saori" uniqKey="Miyakawa S" first="Saori" last="Miyakawa">Saori Miyakawa</name>
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<author><name sortKey="Ogino, Mieko" sort="Ogino, Mieko" uniqKey="Ogino M" first="Mieko" last="Ogino">Mieko Ogino</name>
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<author><name sortKey="Funabe, Sayaka" sort="Funabe, Sayaka" uniqKey="Funabe S" first="Sayaka" last="Funabe">Sayaka Funabe</name>
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<author><name sortKey="Uchino, Akiko" sort="Uchino, Akiko" uniqKey="Uchino A" first="Akiko" last="Uchino">Akiko Uchino</name>
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<author><name sortKey="Shimo, Yasushi" sort="Shimo, Yasushi" uniqKey="Shimo Y" first="Yasushi" last="Shimo">Yasushi Shimo</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Ichinoe, Masaaki" sort="Ichinoe, Masaaki" uniqKey="Ichinoe M" first="Masaaki" last="Ichinoe">Masaaki Ichinoe</name>
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<author><name sortKey="Mikami, Tetuo" sort="Mikami, Tetuo" uniqKey="Mikami T" first="Tetuo" last="Mikami">Tetuo Mikami</name>
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<author><name sortKey="Saegusa, Makoto" sort="Saegusa, Makoto" uniqKey="Saegusa M" first="Makoto" last="Saegusa">Makoto Saegusa</name>
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<author><name sortKey="Nishiyama, Kazutoshi" sort="Nishiyama, Kazutoshi" uniqKey="Nishiyama K" first="Kazutoshi" last="Nishiyama">Kazutoshi Nishiyama</name>
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<author><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name>
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<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<author><name sortKey="Murayama, Shigeo" sort="Murayama, Shigeo" uniqKey="Murayama S" first="Shigeo" last="Murayama">Shigeo Murayama</name>
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<author><name sortKey="Mochizuki, Hideki" sort="Mochizuki, Hideki" uniqKey="Mochizuki H" first="Hideki" last="Mochizuki">Hideki Mochizuki</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013" type="published">2013</date>
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<term>Gene Deletion</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Lewy Bodies (genetics)</term>
<term>Lewy Bodies (pathology)</term>
<term>Lewy Body Disease (genetics)</term>
<term>Lewy Body Disease (pathology)</term>
<term>Magnetic Resonance Imaging</term>
<term>Neurons (pathology)</term>
<term>Substantia Nigra (pathology)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>alpha-Synuclein (metabolism)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Lewy Bodies</term>
<term>Lewy Body Disease</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>alpha-Synuclein</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Bodies</term>
<term>Lewy Body Disease</term>
<term>Neurons</term>
<term>Substantia Nigra</term>
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<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
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<front><div type="abstract" xml:lang="en">We report neuropathologic findings in a patient with homozygous deletions of exons 2 to 4 of parkin.</div>
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<affiliations><list><country><li>Japon</li>
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<tree><noCountry><name sortKey="Funabe, Sayaka" sort="Funabe, Sayaka" uniqKey="Funabe S" first="Sayaka" last="Funabe">Sayaka Funabe</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Ichinoe, Masaaki" sort="Ichinoe, Masaaki" uniqKey="Ichinoe M" first="Masaaki" last="Ichinoe">Masaaki Ichinoe</name>
<name sortKey="Mikami, Tetuo" sort="Mikami, Tetuo" uniqKey="Mikami T" first="Tetuo" last="Mikami">Tetuo Mikami</name>
<name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<name sortKey="Mochizuki, Hideki" sort="Mochizuki, Hideki" uniqKey="Mochizuki H" first="Hideki" last="Mochizuki">Hideki Mochizuki</name>
<name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name>
<name sortKey="Murayama, Shigeo" sort="Murayama, Shigeo" uniqKey="Murayama S" first="Shigeo" last="Murayama">Shigeo Murayama</name>
<name sortKey="Nishiyama, Kazutoshi" sort="Nishiyama, Kazutoshi" uniqKey="Nishiyama K" first="Kazutoshi" last="Nishiyama">Kazutoshi Nishiyama</name>
<name sortKey="Ogino, Mieko" sort="Ogino, Mieko" uniqKey="Ogino M" first="Mieko" last="Ogino">Mieko Ogino</name>
<name sortKey="Saegusa, Makoto" sort="Saegusa, Makoto" uniqKey="Saegusa M" first="Makoto" last="Saegusa">Makoto Saegusa</name>
<name sortKey="Shimo, Yasushi" sort="Shimo, Yasushi" uniqKey="Shimo Y" first="Yasushi" last="Shimo">Yasushi Shimo</name>
<name sortKey="Uchino, Akiko" sort="Uchino, Akiko" uniqKey="Uchino A" first="Akiko" last="Uchino">Akiko Uchino</name>
</noCountry>
<country name="Japon"><noRegion><name sortKey="Miyakawa, Saori" sort="Miyakawa, Saori" uniqKey="Miyakawa S" first="Saori" last="Miyakawa">Saori Miyakawa</name>
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