An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
Identifieur interne : 001295 ( Istex/Corpus ); précédent : 001294; suivant : 001296An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
Auteurs : Marianne J. U. Novak ; Mary G. Sweeney ; Abi Li ; Colm Treacy ; Hoskote S. Chandrashekar ; Paola Giunti ; Robert G. Goold ; Mary B. Davis ; Henry Houlden ; Sarah J. TabriziSource :
- Movement Disorders [ 0885-3185 ] ; 2010-10-15.
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Abstract
the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23223
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Sweeney</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. 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U." last="Novak">Marianne J. U. Novak</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name><affiliation><mods:affiliation>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G." last="Goold">Robert G. Goold</name><affiliation><mods:affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name><affiliation><mods:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-10-15">2010-10-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2176">2176</biblScope><biblScope unit="page" to="2182">2182</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A4760C22791CE4367B182D5904B4BB1369A06596</idno><idno type="DOI">10.1002/mds.23223</idno><idno type="ArticleID">MDS23223</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>cerebellum</term><term>linkage (genetics)</term><term>magnetic resonance imaging</term><term>movement disorders</term><term>spinocerebellar ataxias</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Marianne J.U. Novak MRCP</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string><json:string>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Mary G. Sweeney BSc</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Abi Li BSc</name><affiliations><json:string>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Colm Treacy MSc, RN</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Hoskote S. Chandrashekar MD, DM</name><affiliations><json:string>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Paola Giunti MD, PhD</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Robert G. Goold PhD</name><affiliations><json:string>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Mary B. Davis PhD</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Henry Houlden MRCP, PhD</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string><json:string>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Sarah J. Tabrizi FRCP, PhD</name><affiliations><json:string>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string><json:string>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>cerebellum</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>linkage (genetics)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>magnetic resonance imaging</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>movement disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>spinocerebellar ataxias</value></json:item></subject><language><json:string>eng</json:string></language><abstract>the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.</abstract><qualityIndicators><score>6.429</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1607</abstractCharCount><pdfWordCount>3549</pdfWordCount><pdfCharCount>22335</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>240</abstractWordCount></qualityIndicators><title>An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description</title><genre><json:string>Serial article</json:string></genre><host><volume>25</volume><pages><total>7</total><last>2182</last><first>2176</first></pages><issn><json:string>0885-3185</json:string></issn><issue>13</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.23223</json:string></doi><id>A4760C22791CE4367B182D5904B4BB1369A06596</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*Henry Houlden is an equal senior author.</note><note type="content">*Potential conflicts of interest: HH and ST are supported by MRC grants. The authors have no other financial disclosures to make and report no conflict of interest.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description</title><author><persName><forename type="first">Marianne J.U.</forename><surname>Novak</surname><roleName type="degree">MRCP</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, United Kingdom</affiliation></author><author><persName><forename type="first">Mary G.</forename><surname>Sweeney</surname><roleName type="degree">BSc</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Abi</forename><surname>Li</surname><roleName type="degree">BSc</roleName></persName><affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</affiliation></author><author><persName><forename type="first">Colm</forename><surname>Treacy</surname><roleName type="degree">MSc, RN</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Hoskote S.</forename><surname>Chandrashekar</surname><roleName type="degree">MD, DM</roleName></persName><affiliation>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Paola</forename><surname>Giunti</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Robert G.</forename><surname>Goold</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</affiliation></author><author><persName><forename type="first">Mary B.</forename><surname>Davis</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Henry</forename><surname>Houlden</surname><roleName type="degree">MRCP, PhD</roleName></persName><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</affiliation></author><author><persName><forename type="first">Sarah J.</forename><surname>Tabrizi</surname><roleName type="degree">FRCP, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Box 104, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom</p></note><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-10-15"></date><biblScope unit="vol">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2176">2176</biblScope><biblScope unit="page" to="2182">2182</biblScope></imprint></monogr><idno type="istex">A4760C22791CE4367B182D5904B4BB1369A06596</idno><idno type="DOI">10.1002/mds.23223</idno><idno type="ArticleID">MDS23223</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>cerebellum</term></item><item><term>linkage (genetics)</term></item><item><term>magnetic resonance imaging</term></item><item><term>movement disorders</term></item><item><term>spinocerebellar ataxias</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-07-24">Received</change><change when="2010-04-07">Registration</change><change when="2010-10-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="130"><doi origin="wiley" registered="yes">10.1002/mds.v25:13</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">13</numbering></numberingGroup><coverDate startDate="2010-10-15">15 October 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="240" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23223</doi><idGroup><id type="unit" value="MDS23223"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-07-24"></event><event type="manuscriptRevised" date="2010-01-05"></event><event type="manuscriptAccepted" date="2010-04-07"></event><event type="firstOnline" date="2010-07-28"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-07-28"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-07-06"></event><event type="publishedOnlineFinalForm" date="2010-07-28"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2176</numbering><numbering type="pageLast">2182</numbering></numberingGroup><correspondenceTo>Box 104, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23223.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="4"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="18"></count><count type="wordTotal" number="4082"></count></countGroup><titleGroup><title type="main" xml:lang="en">An <i>ITPR1</i> gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description<link href="#fn2"></link> <link href="#fn1"></link></title><title type="short" xml:lang="en">ITPR1 Gene Deletion and Spinocerebellar Ataxia</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Marianne J.U.</givenNames><familyName>Novak</familyName><degrees>MRCP</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mary G.</givenNames><familyName>Sweeney</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Abi</givenNames><familyName>Li</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Colm</givenNames><familyName>Treacy</familyName><degrees>MSc, RN</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Hoskote S.</givenNames><familyName>Chandrashekar</familyName><degrees>MD, DM</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Paola</givenNames><familyName>Giunti</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Robert G.</givenNames><familyName>Goold</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mary B.</givenNames><familyName>Davis</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1 #af4"><personName><givenNames>Henry</givenNames><familyName>Houlden</familyName><degrees>MRCP, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af5" corresponding="yes"><personName><givenNames>Sarah J.</givenNames><familyName>Tabrizi</familyName><degrees>FRCP, PhD</degrees></personName><contactDetails><email>sarah.tabrizi@prion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">cerebellum</keyword><keyword xml:id="kwd2">linkage (genetics)</keyword><keyword xml:id="kwd3">magnetic resonance imaging</keyword><keyword xml:id="kwd4">movement disorders</keyword><keyword xml:id="kwd5">spinocerebellar ataxias</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23223:MDS_23223_sm_suppvideo1"></mediaResource><caption>Supporting Video 1.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23223:MDS_23223_sm_suppinfo1"></mediaResource><caption>Supporting Information.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23223:MDS_23223_sm_suppinfo2"></mediaResource><caption>Supporting Information.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (<i>ITPR1</i>) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in <i>ITPR1</i> have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an <i>ITPR1</i> point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the <i>ITPR1</i> deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in <i>ITPR1</i> (the second largest <i>ITPR1</i> deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for <i>ITPR1</i> defects. © 2010 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Henry Houlden is an equal senior author.</p></note><note xml:id="fn1"><p>Potential conflicts of interest: HH and ST are supported by MRC grants. The authors have no other financial disclosures to make and report no conflict of interest.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>ITPR1 Gene Deletion and Spinocerebellar Ataxia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>An</title></titleInfo><name type="personal"><namePart type="given">Marianne J.U.</namePart><namePart type="family">Novak</namePart><namePart type="termsOfAddress">MRCP</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary G.</namePart><namePart type="family">Sweeney</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Abi</namePart><namePart type="family">Li</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Colm</namePart><namePart type="family">Treacy</namePart><namePart type="termsOfAddress">MSc, RN</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hoskote S.</namePart><namePart type="family">Chandrashekar</namePart><namePart type="termsOfAddress">MD, DM</namePart><affiliation>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paola</namePart><namePart type="family">Giunti</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert G.</namePart><namePart type="family">Goold</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary B.</namePart><namePart type="family">Davis</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Henry</namePart><namePart type="family">Houlden</namePart><namePart type="termsOfAddress">MRCP, PhD</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah J.</namePart><namePart type="family">Tabrizi</namePart><namePart type="termsOfAddress">FRCP, PhD</namePart><affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom</affiliation><description>Correspondence: Box 104, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-10-15</dateIssued><dateCaptured encoding="w3cdtf">2009-07-24</dateCaptured><dateValid encoding="w3cdtf">2010-04-07</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">1</extent><extent unit="references">18</extent><extent unit="words">4082</extent></physicalDescription><abstract lang="en">the purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.</abstract><note type="content">*Henry Houlden is an equal senior author.</note><note type="content">*Potential conflicts of interest: HH and ST are supported by MRC grants. The authors have no other financial disclosures to make and report no conflict of interest.</note><subject lang="en"><genre>Keywords</genre><topic>cerebellum</topic><topic>linkage (genetics)</topic><topic>magnetic resonance imaging</topic><topic>movement disorders</topic><topic>spinocerebellar ataxias</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Video 1. - Supporting Information. - Supporting Information. - </note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>13</number></detail><extent unit="pages"><start>2176</start><end>2182</end><total>7</total></extent></part></relatedItem><identifier type="istex">A4760C22791CE4367B182D5904B4BB1369A06596</identifier><identifier type="DOI">10.1002/mds.23223</identifier><identifier type="ArticleID">MDS23223</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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