GNAL mutation in isolated laryngeal dystonia
ABSTRACT Background Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown. Method Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in k...
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| Veröffentlicht in: | Movement disorders 2016-05, Vol.31 (5), p.750-755 |
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| container_title | Movement disorders |
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| creator | Putzel, Gregory G. Fuchs, Tania Battistella, Giovanni Rubien-Thomas, Estee Frucht, Steven J. Blitzer, Andrew Ozelius, Laurie J. Simonyan, Kristina |
| description | ABSTRACT
Background
Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.
Method
Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.
Results
We identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto‐parietal cortex and decreased activity in the cerebellum.
Conclusions
Our data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society |
| doi_str_mv | 10.1002/mds.26502 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4933312</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1790966218</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5142-155dad20b31e080d402f2c72034daf93de37a008c3ea04907acd42c0dfc2dfb3</originalsourceid><addsrcrecordid>eNqNkV1LHDEUhkOp1FV74R8oC71RcPTka5K5EcSPVboq0qX1LmSTjI2dmehkRt1_b3R1qQVBOJCL85yHc_IitI5hGwOQndrGbZJzIJ_QAHOKM0m4-IwGICXPKJZ8Ga3EeA2AMcf5F7RMBBSUMTFAW6OzvfGw7jvd-dAMfaoYKt05O6x0O2uunK6Gdha70Hi9hpZKXUX39eVdRZOjw8n-cTY-H53s740zwzEjGebcaktgSrEDCZYBKYkRBCizuiyodVRoAGmo08AKENpYRgzY0hBbTukq2p1rb_pp7axxTdfqSt20vk4rqaC9ettp_B91Fe4UKyilmCTBxougDbe9i52qfTSuqnTjQh8VFgUUeU6w_AAqRUGFxCKh3_9Dr0PfNukjnilGZbo-UZtzyrQhxtaVi70xqKe0VEpLPaeV2G__HrogX-NJwM4cuPeVm71vUqcHP1-V2XzCx849LCZ0-1flggqufp-N1MGE__pxelmoC_oIvIKshw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1787438514</pqid></control><display><type>article</type><title>GNAL mutation in isolated laryngeal dystonia</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Putzel, Gregory G. ; Fuchs, Tania ; Battistella, Giovanni ; Rubien-Thomas, Estee ; Frucht, Steven J. ; Blitzer, Andrew ; Ozelius, Laurie J. ; Simonyan, Kristina</creator><creatorcontrib>Putzel, Gregory G. ; Fuchs, Tania ; Battistella, Giovanni ; Rubien-Thomas, Estee ; Frucht, Steven J. ; Blitzer, Andrew ; Ozelius, Laurie J. ; Simonyan, Kristina</creatorcontrib><description>ABSTRACT
Background
Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.
Method
Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.
Results
We identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto‐parietal cortex and decreased activity in the cerebellum.
Conclusions
Our data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.26502</identifier><identifier>PMID: 27093447</identifier><identifier>CODEN: MOVDEA</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Aged ; Cerebellum - physiopathology ; Cerebral Cortex - physiopathology ; Dysphonia - genetics ; Dysphonia - physiopathology ; Dystonia ; Female ; genetic factors ; GTP-Binding Protein alpha Subunits - genetics ; Humans ; Male ; Middle Aged ; Movement disorders ; Mutation ; neuroimaging ; spasmodic dysphonia</subject><ispartof>Movement disorders, 2016-05, Vol.31 (5), p.750-755</ispartof><rights>2016 International Parkinson and Movement Disorder Society</rights><rights>2016 International Parkinson and Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5142-155dad20b31e080d402f2c72034daf93de37a008c3ea04907acd42c0dfc2dfb3</citedby><cites>FETCH-LOGICAL-c5142-155dad20b31e080d402f2c72034daf93de37a008c3ea04907acd42c0dfc2dfb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.26502$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.26502$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,778,782,883,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27093447$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Putzel, Gregory G.</creatorcontrib><creatorcontrib>Fuchs, Tania</creatorcontrib><creatorcontrib>Battistella, Giovanni</creatorcontrib><creatorcontrib>Rubien-Thomas, Estee</creatorcontrib><creatorcontrib>Frucht, Steven J.</creatorcontrib><creatorcontrib>Blitzer, Andrew</creatorcontrib><creatorcontrib>Ozelius, Laurie J.</creatorcontrib><creatorcontrib>Simonyan, Kristina</creatorcontrib><title>GNAL mutation in isolated laryngeal dystonia</title><title>Movement disorders</title><addtitle>Mov Disord</addtitle><description>ABSTRACT
Background
Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.
Method
Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.
Results
We identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto‐parietal cortex and decreased activity in the cerebellum.
Conclusions
Our data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society</description><subject>Aged</subject><subject>Cerebellum - physiopathology</subject><subject>Cerebral Cortex - physiopathology</subject><subject>Dysphonia - genetics</subject><subject>Dysphonia - physiopathology</subject><subject>Dystonia</subject><subject>Female</subject><subject>genetic factors</subject><subject>GTP-Binding Protein alpha Subunits - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>neuroimaging</subject><subject>spasmodic dysphonia</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkV1LHDEUhkOp1FV74R8oC71RcPTka5K5EcSPVboq0qX1LmSTjI2dmehkRt1_b3R1qQVBOJCL85yHc_IitI5hGwOQndrGbZJzIJ_QAHOKM0m4-IwGICXPKJZ8Ga3EeA2AMcf5F7RMBBSUMTFAW6OzvfGw7jvd-dAMfaoYKt05O6x0O2uunK6Gdha70Hi9hpZKXUX39eVdRZOjw8n-cTY-H53s740zwzEjGebcaktgSrEDCZYBKYkRBCizuiyodVRoAGmo08AKENpYRgzY0hBbTukq2p1rb_pp7axxTdfqSt20vk4rqaC9ettp_B91Fe4UKyilmCTBxougDbe9i52qfTSuqnTjQh8VFgUUeU6w_AAqRUGFxCKh3_9Dr0PfNukjnilGZbo-UZtzyrQhxtaVi70xqKe0VEpLPaeV2G__HrogX-NJwM4cuPeVm71vUqcHP1-V2XzCx849LCZ0-1flggqufp-N1MGE__pxelmoC_oIvIKshw</recordid><startdate>201605</startdate><enddate>201605</enddate><creator>Putzel, Gregory G.</creator><creator>Fuchs, Tania</creator><creator>Battistella, Giovanni</creator><creator>Rubien-Thomas, Estee</creator><creator>Frucht, Steven J.</creator><creator>Blitzer, Andrew</creator><creator>Ozelius, Laurie J.</creator><creator>Simonyan, Kristina</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201605</creationdate><title>GNAL mutation in isolated laryngeal dystonia</title><author>Putzel, Gregory G. ; Fuchs, Tania ; Battistella, Giovanni ; Rubien-Thomas, Estee ; Frucht, Steven J. ; Blitzer, Andrew ; Ozelius, Laurie J. ; Simonyan, Kristina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5142-155dad20b31e080d402f2c72034daf93de37a008c3ea04907acd42c0dfc2dfb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Aged</topic><topic>Cerebellum - physiopathology</topic><topic>Cerebral Cortex - physiopathology</topic><topic>Dysphonia - genetics</topic><topic>Dysphonia - physiopathology</topic><topic>Dystonia</topic><topic>Female</topic><topic>genetic factors</topic><topic>GTP-Binding Protein alpha Subunits - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>neuroimaging</topic><topic>spasmodic dysphonia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Putzel, Gregory G.</creatorcontrib><creatorcontrib>Fuchs, Tania</creatorcontrib><creatorcontrib>Battistella, Giovanni</creatorcontrib><creatorcontrib>Rubien-Thomas, Estee</creatorcontrib><creatorcontrib>Frucht, Steven J.</creatorcontrib><creatorcontrib>Blitzer, Andrew</creatorcontrib><creatorcontrib>Ozelius, Laurie J.</creatorcontrib><creatorcontrib>Simonyan, Kristina</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Putzel, Gregory G.</au><au>Fuchs, Tania</au><au>Battistella, Giovanni</au><au>Rubien-Thomas, Estee</au><au>Frucht, Steven J.</au><au>Blitzer, Andrew</au><au>Ozelius, Laurie J.</au><au>Simonyan, Kristina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GNAL mutation in isolated laryngeal dystonia</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov Disord</addtitle><date>2016-05</date><risdate>2016</risdate><volume>31</volume><issue>5</issue><spage>750</spage><epage>755</epage><pages>750-755</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><coden>MOVDEA</coden><abstract>ABSTRACT
Background
Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.
Method
Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.
Results
We identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto‐parietal cortex and decreased activity in the cerebellum.
Conclusions
Our data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>27093447</pmid><doi>10.1002/mds.26502</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Cerebellum - physiopathology Cerebral Cortex - physiopathology Dysphonia - genetics Dysphonia - physiopathology Dystonia Female genetic factors GTP-Binding Protein alpha Subunits - genetics Humans Male Middle Aged Movement disorders Mutation neuroimaging spasmodic dysphonia |
| title | GNAL mutation in isolated laryngeal dystonia |
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