1 Ocak 2017 Dergi makalesi Açık Erişim

Yucesan, E.; Iseri, Sibel A. Ugur; Bilgic, B.; Gormez, Z.; Gungor, B. Bakir; Sarac, A.; Ozdemir, O.; Sagiroglu, M.; Gurvit, H.; Hanagasi, H.; Ozbek, U.

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/90229</identifier>
  <creators>
    <creator>
      <creatorName>Yucesan, E.</creatorName>
      <givenName>E.</givenName>
      <familyName>Yucesan</familyName>
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    <creator>
      <creatorName>Iseri, Sibel A. Ugur</creatorName>
      <givenName>Sibel A. Ugur</givenName>
      <familyName>Iseri</familyName>
      <affiliation>Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Bilgic, B.</creatorName>
      <givenName>B.</givenName>
      <familyName>Bilgic</familyName>
      <affiliation>Istanbul Univ, Dept Neurol, Behav Neurol &amp; Movement Disorders Unit, Istanbul Fac Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gormez, Z.</creatorName>
      <givenName>Z.</givenName>
      <familyName>Gormez</familyName>
    </creator>
    <creator>
      <creatorName>Gungor, B. Bakir</creatorName>
      <givenName>B. Bakir</givenName>
      <familyName>Gungor</familyName>
    </creator>
    <creator>
      <creatorName>Sarac, A.</creatorName>
      <givenName>A.</givenName>
      <familyName>Sarac</familyName>
    </creator>
    <creator>
      <creatorName>Ozdemir, O.</creatorName>
      <givenName>O.</givenName>
      <familyName>Ozdemir</familyName>
      <affiliation>Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Sagiroglu, M.</creatorName>
      <givenName>M.</givenName>
      <familyName>Sagiroglu</familyName>
    </creator>
    <creator>
      <creatorName>Gurvit, H.</creatorName>
      <givenName>H.</givenName>
      <familyName>Gurvit</familyName>
      <affiliation>Istanbul Univ, Dept Neurol, Behav Neurol &amp; Movement Disorders Unit, Istanbul Fac Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Hanagasi, H.</creatorName>
      <givenName>H.</givenName>
      <familyName>Hanagasi</familyName>
      <affiliation>Istanbul Univ, Dept Neurol, Behav Neurol &amp; Movement Disorders Unit, Istanbul Fac Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ozbek, U.</creatorName>
      <givenName>U.</givenName>
      <familyName>Ozbek</familyName>
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  <titles>
    <title>Syne1 Related Cerebellar Ataxia Presents With Variable Phenotypes In A Consanguineous Family From Turkey</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2017</publicationYear>
  <dates>
    <date dateType="Issued">2017-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/90229</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1007/s10072-017-3049-8</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings. We identified a homozygous variant in SYNE1 (NM_033071.3: c.13086delC; p.His4362GlnfsX2) in all four affected siblings. This variant presented herein has originally been associated with only pure ataxia in a single case. We thus present segregation and phenotypic manifestations of this variant in four affected family members and further extend the pure ataxia phenotype with upper motor neuron involvement and peripheral neuropathy. Our findings in turn established a precise molecular diagnosis in this family, demonstrating the use of WES combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.</description>
  </descriptions>
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