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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Auteurs : Nutan Sharma ; Ramon A. Franco ; John Kuster ; Adele A. Mitchell ; Tania Fuchs ; Rachel Saunders-Pullman ; Deborah Raymond ; Mitchell F. Brin ; Andrew Blitzer [États-Unis] ; Susan B. Bressman ; Laurie J. Ozelius

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.

RBID : PMC:3095887

Abstract

Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3095887

DOI: 10.1002/mds.23225
PubMed: 20669276
PubMed Central: 3095887

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Nutan Sharma

<affiliation><nlm:aff id="A1">Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>

Ramon A. Franco

<affiliation><nlm:aff id="A2">Department of Otolaryngology, Massachusetts Eye and Ear Infirmary</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts Eye and Ear Infirmary</wicri:noCountry>
</affiliation>

John Kuster

<affiliation><nlm:aff id="A1">Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>

Rachel Saunders-Pullman

<affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff>
<wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry>
</affiliation>

Deborah Raymond

<affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff>
<wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry>
</affiliation>

Mitchell F. Brin

<affiliation><nlm:aff id="A6">Department of Neurology, University of California, Irvine and Allergan, LLC, Irvine California</nlm:aff>
<wicri:noCountry code="subfield">Irvine California</wicri:noCountry>
</affiliation>

Susan B. Bressman

<affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff>
<wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry>
</affiliation>

Laurie J. Ozelius

<affiliation><nlm:aff id="A5">Neurology, Mount Sinai School of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry>
</affiliation>

Le document en format XML

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<wicri:noCountry code="subfield">Irvine California</wicri:noCountry>
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<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
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<wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
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<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
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<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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<title-group><article-title>Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Sharma</surname>
<given-names>Nutan</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Franco</surname>
<given-names>Ramon A</given-names>
<suffix>Jr.</suffix>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kuster</surname>
<given-names>John</given-names>
</name>
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<contrib contrib-type="author"><name><surname>Mitchell</surname>
<given-names>Adele A.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
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<contrib contrib-type="author"><name><surname>Fuchs</surname>
<given-names>Tania</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saunders-Pullman</surname>
<given-names>Rachel</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
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<contrib contrib-type="author"><name><surname>Raymond</surname>
<given-names>Deborah</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
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<contrib contrib-type="author"><name><surname>Brin</surname>
<given-names>Mitchell F.</given-names>
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<contrib contrib-type="author"><name><surname>Bressman</surname>
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<contrib contrib-type="author"><name><surname>Ozelius</surname>
<given-names>Laurie J.</given-names>
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<xref ref-type="aff" rid="A5">5</xref>
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<aff id="A1"><label>1</label>
Department of Neurology, Massachusetts General Hospital</aff>
<aff id="A2"><label>2</label>
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary</aff>
<aff id="A3"><label>3</label>
Department of Neurology, Beth Israel Medical Center</aff>
<aff id="A4"><label>4</label>
Department of Genetics and Genomic Sciences</aff>
<aff id="A5"><label>5</label>
Neurology, Mount Sinai School of Medicine</aff>
<aff id="A6"><label>6</label>
Department of Neurology, University of California, Irvine and Allergan, LLC, Irvine California</aff>
<aff id="A7"><label>7</label>
New York Center for Voice and Swallowing Disorders, New York, NY</aff>
<author-notes><corresp id="cor1">Corresponding Author: Nutan Sharma, MD PhD, 149 13<sup>th</sup>
 Street, Rm 6407, Charlestown MA 02129, Ph: 617-643-0841, Fax: 617-643-5689 <email>nsharma@partners.org</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>2</day>
<month>2</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>10</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>17</day>
<month>5</month>
<year>2011</year>
</pub-date>
<volume>25</volume>
<issue>13</issue>
<fpage>2183</fpage>
<lpage>2187</lpage>
<abstract><p id="P1">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</p>
</abstract>
<kwd-group><kwd>focal dystonia</kwd>
<kwd>segmental dystonia</kwd>
<kwd>torsinA</kwd>
<kwd>single nucleotide polymorphisms</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke  : NINDS</funding-source>
<award-id>P50 NS037409-11 || NS</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

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Abstract

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