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An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus
We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclon...
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Published in: | Neurology and clinical neuroscience 2020-01, Vol.8 (1), p.36-38 |
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creator | Miyata, Yohane Hamanaka, Kohei Kumada, Satoko Uchino, Shumpei Yokochi, Fusako Taniguchi, Makoto Miyatake, Satoko Matsumoto, Naomichi |
description | We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclonus and tremor, can be seen in patients with DYT‐KMT2B, asterixis has not been reported. This is also the first report which shows the beneficial effect of bilateral GPi‐DBS for asterixis, suggesting that dysfunction of the cortico‐basal ganglia‐thalamo‐cortical circuit may be involved in its pathomechanism. |
doi_str_mv | 10.1111/ncn3.12334 |
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He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclonus and tremor, can be seen in patients with DYT‐KMT2B, asterixis has not been reported. 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This is also the first report which shows the beneficial effect of bilateral GPi‐DBS for asterixis, suggesting that dysfunction of the cortico‐basal ganglia‐thalamo‐cortical circuit may be involved in its pathomechanism.</description><subject>asterixis</subject><subject>Basal ganglia</subject><subject>Deep brain stimulation</subject><subject>Dystonia</subject><subject>Globus pallidus</subject><subject>KMT2B</subject><subject>lysine‐specific histone methyltransferase 2B</subject><subject>Myoclonus</subject><subject>Tremor</subject><issn>2049-4173</issn><issn>2049-4173</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp9kE1OwzAQhS0EElXphhNYYofUEsduEy9LxZ8oZVPW1tQ_xVXqBDsRZIM4AmfkJDiEBStmMyPN995oHkKnJJmQWBdOOjohKaXsAA3ShPExIxk9_DMfo1EIuyQW55TwfIDe5w5D3VZWQoElBI1Lg-8f1unl18en1wXUWmHVhrp0FvAenDU61NZtMYRae_tmAwansDZGy7oTK60rvPFgHY7gvokWtnTdpn7WeFuUmybgCorCqiacoCMDRdCj3z5ET9dX68XtePl4c7eYL8eScsLGZqZUlqYzSAwFRqc6k9M8ZykBQjIJkIBhkHFFDGyozBikTAI3JCHANYCiQ3TW-1a-fGniB2JXNt7FkyLmRTjN8mkWqfOekr4MwWsjKm_34FtBEtFFLLqIxU_EESY9_GoL3f5DitViRXvNN-EsgDA</recordid><startdate>202001</startdate><enddate>202001</enddate><creator>Miyata, Yohane</creator><creator>Hamanaka, Kohei</creator><creator>Kumada, Satoko</creator><creator>Uchino, Shumpei</creator><creator>Yokochi, Fusako</creator><creator>Taniguchi, Makoto</creator><creator>Miyatake, Satoko</creator><creator>Matsumoto, Naomichi</creator><general>Wiley Subscription Services, Inc</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>K9.</scope><orcidid>https://orcid.org/0000-0001-5179-331X</orcidid><orcidid>https://orcid.org/0000-0001-9846-6500</orcidid><orcidid>https://orcid.org/0000-0002-9687-7151</orcidid><orcidid>https://orcid.org/0000-0002-7767-7592</orcidid><orcidid>https://orcid.org/0000-0003-3890-1667</orcidid></search><sort><creationdate>202001</creationdate><title>An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus</title><author>Miyata, Yohane ; Hamanaka, Kohei ; Kumada, Satoko ; Uchino, Shumpei ; Yokochi, Fusako ; Taniguchi, Makoto ; Miyatake, Satoko ; Matsumoto, Naomichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3914-f6dd7226a0f3a435e7c588421a117caa0af4a79d1fab3c74a24ca9f101a9eaad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>asterixis</topic><topic>Basal ganglia</topic><topic>Deep brain stimulation</topic><topic>Dystonia</topic><topic>Globus pallidus</topic><topic>KMT2B</topic><topic>lysine‐specific histone methyltransferase 2B</topic><topic>Myoclonus</topic><topic>Tremor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Miyata, Yohane</creatorcontrib><creatorcontrib>Hamanaka, Kohei</creatorcontrib><creatorcontrib>Kumada, Satoko</creatorcontrib><creatorcontrib>Uchino, Shumpei</creatorcontrib><creatorcontrib>Yokochi, Fusako</creatorcontrib><creatorcontrib>Taniguchi, Makoto</creatorcontrib><creatorcontrib>Miyatake, Satoko</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><jtitle>Neurology and clinical neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Miyata, Yohane</au><au>Hamanaka, Kohei</au><au>Kumada, Satoko</au><au>Uchino, Shumpei</au><au>Yokochi, Fusako</au><au>Taniguchi, Makoto</au><au>Miyatake, Satoko</au><au>Matsumoto, Naomichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus</atitle><jtitle>Neurology and clinical neuroscience</jtitle><date>2020-01</date><risdate>2020</risdate><volume>8</volume><issue>1</issue><spage>36</spage><epage>38</epage><pages>36-38</pages><issn>2049-4173</issn><eissn>2049-4173</eissn><abstract>We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclonus and tremor, can be seen in patients with DYT‐KMT2B, asterixis has not been reported. This is also the first report which shows the beneficial effect of bilateral GPi‐DBS for asterixis, suggesting that dysfunction of the cortico‐basal ganglia‐thalamo‐cortical circuit may be involved in its pathomechanism.</abstract><cop>Tokyo</cop><pub>Wiley Subscription Services, Inc</pub><doi>10.1111/ncn3.12334</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0001-5179-331X</orcidid><orcidid>https://orcid.org/0000-0001-9846-6500</orcidid><orcidid>https://orcid.org/0000-0002-9687-7151</orcidid><orcidid>https://orcid.org/0000-0002-7767-7592</orcidid><orcidid>https://orcid.org/0000-0003-3890-1667</orcidid></addata></record> |
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subjects | asterixis Basal ganglia Deep brain stimulation Dystonia Globus pallidus KMT2B lysine‐specific histone methyltransferase 2B Myoclonus Tremor |
title | An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus |
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