Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 000341 ( Pmc/Checkpoint ); précédent : 000340; suivant : 000342Genetic 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. OzeliusSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
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:
DOI: 10.1002/mds.23225
PubMed: 20669276
PubMed Central: 3095887
Affiliations:
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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>
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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>
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<contrib contrib-type="author"><name><surname>Franco</surname>
<given-names>Ramon A</given-names>
<suffix>Jr.</suffix>
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<contrib contrib-type="author"><name><surname>Kuster</surname>
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<contrib contrib-type="author"><name><surname>Mitchell</surname>
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<contrib contrib-type="author"><name><surname>Fuchs</surname>
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<given-names>Deborah</given-names>
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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>
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<pub-date pub-type="nihms-submitted"><day>2</day>
<month>2</month>
<year>2011</year>
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<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>
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<kwd>torsinA</kwd>
<kwd>single nucleotide polymorphisms</kwd>
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<funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source>
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