Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
Identifieur interne : 001667 ( Istex/Corpus ); précédent : 001666; suivant : 001668Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
Auteurs : Keiko Hiramoto ; Hideshi Kawakami ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio SakaiSource :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
Abstract
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20970
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xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title><author><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name><affiliation><mods:affiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name><affiliation><mods:affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Inoue, Kimiko" sort="Inoue, Kimiko" uniqKey="Inoue K" first="Kimiko" last="Inoue">Kimiko Inoue</name><affiliation><mods:affiliation>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe, Japan</mods:affiliation></affiliation></author><author><name sortKey="Seki, Takahiro" sort="Seki, Takahiro" uniqKey="Seki T" first="Takahiro" last="Seki">Takahiro Seki</name><affiliation><mods:affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name><affiliation><mods:affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name><affiliation><mods:affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name><affiliation><mods:affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name><affiliation><mods:affiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author><author><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name><affiliation><mods:affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Keiko Hiramoto MD, PhD</name><affiliations><json:string>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string><json:string>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Hideshi Kawakami MD, PhD</name><affiliations><json:string>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Kimiko Inoue MD</name><affiliations><json:string>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe, Japan</json:string></affiliations></json:item><json:item><name>Takahiro Seki PhD</name><affiliations><json:string>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Hirofumi Maruyama MD, PhD</name><affiliations><json:string>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Hiroyuki Morino MD, PhD</name><affiliations><json:string>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Masayasu Matsumoto MD, PhD</name><affiliations><json:string>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Kaoru Kurisu MD, PhD</name><affiliations><json:string>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Norio Sakai MD, PhD</name><affiliations><json:string>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>protein kinase C</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>spinocerebellar ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>point mutation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>6.123</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1514</abstractCharCount><pdfWordCount>3363</pdfWordCount><pdfCharCount>20723</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>230</abstractWordCount></qualityIndicators><title>Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title><genre><json:string>Serial article</json:string></genre><host><volume>21</volume><pages><total>6</total><last>1360</last><first>1355</first></pages><issn><json:string>0885-3185</json:string></issn><issue>9</issue><subject><json:item><value>Research 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xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</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>2006</date></publicationStmt><notesStmt><note>Grant‐in‐Aid for Scientific Research from the Ministry of Education, Sports and Culture</note><note>Takeda Science Foundation and the Japanese Smoking Research Association</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title><author><persName><forename type="first">Keiko</forename><surname>Hiramoto</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation></author><author><persName><forename type="first">Hideshi</forename><surname>Kawakami</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, 1‐2‐3 Kasumi, Minami‐ku, Hiroshima 734‐8551, Japan</p></note><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation></author><author><persName><forename type="first">Kimiko</forename><surname>Inoue</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe, Japan</affiliation></author><author><persName><forename type="first">Takahiro</forename><surname>Seki</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation></author><author><persName><forename type="first">Hirofumi</forename><surname>Maruyama</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation></author><author><persName><forename type="first">Hiroyuki</forename><surname>Morino</surname><roleName type="degree">MD, 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Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>protein kinase C</term></item><item><term>spinocerebellar ataxia</term></item><item><term>point mutation</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="2005-07-04">Received</change><change when="2006-01-18">Registration</change><change when="2006-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/2E6CA4F03264336AA86E384DFCB4810E15D1162E/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="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="90"><doi origin="wiley" registered="yes">10.1002/mds.v21:9</doi><numberingGroup><numbering type="journalVolume" number="21">21</numbering><numbering type="journalIssue">9</numbering></numberingGroup><coverDate startDate="2006-09">September 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="90" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20970</doi><idGroup><id type="unit" value="MDS20970"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2006 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2005-07-04"></event><event type="manuscriptRevised" date="2005-11-29"></event><event type="manuscriptAccepted" date="2006-01-18"></event><event type="publishedOnlineEarlyUnpaginated" date="2006-06-08"></event><event type="firstOnline" date="2006-06-08"></event><event type="publishedOnlineFinalForm" date="2006-09-20"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-04-21"></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">1355</numbering><numbering type="pageLast">1360</numbering></numberingGroup><correspondenceTo>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, 1‐2‐3 Kasumi, Minami‐ku, Hiroshima 734‐8551, Japan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20970.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="3772"></count></countGroup><titleGroup><title type="main" xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title><title type="short" xml:lang="en">SCA14 in Japanese</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Keiko</givenNames><familyName>Hiramoto</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3" corresponding="yes"><personName><givenNames>Hideshi</givenNames><familyName>Kawakami</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email normalForm="hkawakam@hiroshima-u.ac.jp">hkawakam@hiroshima‐u.ac.jp</email></contactDetails></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Kimiko</givenNames><familyName>Inoue</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Takahiro</givenNames><familyName>Seki</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Hirofumi</givenNames><familyName>Maruyama</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Hiroyuki</givenNames><familyName>Morino</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Masayasu</givenNames><familyName>Matsumoto</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kaoru</givenNames><familyName>Kurisu</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Norio</givenNames><familyName>Sakai</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="JP" type="organization"><unparsedAffiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="JP" type="organization"><unparsedAffiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">protein kinase C</keyword><keyword xml:id="kwd2">spinocerebellar ataxia</keyword><keyword xml:id="kwd3">point mutation</keyword></keywordGroup><fundingInfo><fundingAgency>Grant‐in‐Aid for Scientific Research from the Ministry of Education, Sports and Culture</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Takeda Science Foundation and the Japanese Smoking Research Association</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>SCA14 in Japanese</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title></titleInfo><name type="personal"><namePart type="given">Keiko</namePart><namePart type="family">Hiramoto</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hideshi</namePart><namePart type="family">Kawakami</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><description>Correspondence: Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, 1‐2‐3 Kasumi, Minami‐ku, Hiroshima 734‐8551, Japan</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kimiko</namePart><namePart type="family">Inoue</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Takahiro</namePart><namePart type="family">Seki</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hirofumi</namePart><namePart type="family">Maruyama</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroyuki</namePart><namePart type="family">Morino</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Masayasu</namePart><namePart type="family">Matsumoto</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kaoru</namePart><namePart type="family">Kurisu</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Norio</namePart><namePart type="family">Sakai</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima, Japan</affiliation><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">2006-09</dateIssued><dateCaptured encoding="w3cdtf">2005-07-04</dateCaptured><dateValid encoding="w3cdtf">2006-01-18</dateValid><copyrightDate encoding="w3cdtf">2006</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">3772</extent></physicalDescription><abstract lang="en">Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</abstract><note type="funding">Grant‐in‐Aid for Scientific Research from the Ministry of Education, Sports and Culture</note><note type="funding">Takeda Science Foundation and the Japanese Smoking Research Association</note><subject lang="en"><genre>Keywords</genre><topic>protein kinase C</topic><topic>spinocerebellar ataxia</topic><topic>point mutation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1355</start><end>1360</end><total>6</total></extent></part></relatedItem><identifier type="istex">2E6CA4F03264336AA86E384DFCB4810E15D1162E</identifier><identifier type="DOI">10.1002/mds.20970</identifier><identifier type="ArticleID">MDS20970</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 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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