Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease
Identifieur interne : 000252 ( Istex/Corpus ); précédent : 000251; suivant : 000253Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease
Auteurs : Sascha Hering ; Clemens Achmüller ; Andrea Köhler ; Werner Poewe ; Raine Schneider ; Sylvia M. BoeschSource :
- Movement Disorders [ 0885-3185 ] ; 2009-04-15.
English descriptors
Abstract
We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium‐carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22465
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ISTEX:74B6A5CFC55FF8B5DFD81007A4E279DD9EE4B1E3Le document en format XML
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Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium‐carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Sascha Hering MD</name><affiliations><json:string>Department of Neurology, Innsbruck Medical University, Austria</json:string></affiliations></json:item><json:item><name>Clemens Achmüller PhD</name><affiliations><json:string>Department of Neurology, Innsbruck Medical University, Austria</json:string><json:string>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Andrea Köhler MS</name><affiliations><json:string>Department of Neurology, Innsbruck Medical University, Austria</json:string><json:string>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Werner Poewe MD</name><affiliations><json:string>Department of Neurology, Innsbruck Medical University, Austria</json:string></affiliations></json:item><json:item><name>Raine Schneider PhD</name><affiliations><json:string>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Sylvia M. 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online version of this article. </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium‐carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: None reported.</p></note><note xml:id="fn2"><p>The authors have nothing to disclose.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Phenotype Variability in SCA2</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease</title></titleInfo><name type="personal"><namePart type="given">Sascha</namePart><namePart type="family">Hering</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Innsbruck Medical University, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Clemens</namePart><namePart type="family">Achmüller</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Innsbruck Medical University, Austria</affiliation><affiliation>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</affiliation><description>The authors have nothing to disclose.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Köhler</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurology, Innsbruck Medical University, Austria</affiliation><affiliation>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</affiliation><description>The authors have nothing to disclose.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Werner</namePart><namePart type="family">Poewe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Innsbruck Medical University, Austria</affiliation><description>The authors have nothing to disclose.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Raine</namePart><namePart type="family">Schneider</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Biochemistry and Center for Molecular Biosciences, Leopold Franzens University, Innsbruck, Austria</affiliation><description>The authors have nothing to disclose.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sylvia M.</namePart><namePart type="family">Boesch</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Innsbruck Medical University, Austria</affiliation><description>The authors have nothing to disclose.</description><affiliation>Department of Neurology, Innsbruck Medical University, Anichstrasse 35, 6020 Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-04-15</dateIssued><dateCaptured encoding="w3cdtf">2008-10-13</dateCaptured><dateValid encoding="w3cdtf">2008-12-24</dateValid><copyrightDate encoding="w3cdtf">2009</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">1</extent><extent unit="tables">1</extent><extent unit="references">18</extent><extent unit="words">2618</extent></physicalDescription><abstract lang="en">We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium‐carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="content">*The authors have nothing to disclose.</note><note type="funding">Austrian Science Fund (FWF) - No. SFB021/03; </note><subject lang="en"><genre>keywords</genre><topic>spinocerebellar ataxia type 2</topic><topic>phenotype‐ genotype correlation</topic><topic>cerebellar ataxia</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><genre type="journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.</note><subject><genre>article-category</genre><topic>Brief Report</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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>774</start><end>777</end><total>4</total></extent></part></relatedItem><identifier type="istex">74B6A5CFC55FF8B5DFD81007A4E279DD9EE4B1E3</identifier><identifier type="DOI">10.1002/mds.22465</identifier><identifier type="ArticleID">MDS22465</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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