Prevalence of THAP1 sequence variants in German patients with primary dystonia
Identifieur interne : 000936 ( Istex/Corpus ); précédent : 000935; suivant : 000937Prevalence of THAP1 sequence variants in German patients with primary dystonia
Auteurs : Anne S. Söhn ; Nicola Glöckle ; Andrea Duarte Doetzer ; Günther Deuschl ; Ute Felbor ; Helge R. Topka ; Ludger Schöls ; Olaf Riess ; Peter Bauer ; Ulrich Müller ; Kathrin GrundmannSource :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
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- KwdEn :
Abstract
Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23207
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<front><div type="abstract" xml:lang="en">Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society</div>
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<titleGroup><title type="articleCategory">Brief Report</title>
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<copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright>
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<titleGroup><title type="main" xml:lang="en">Prevalence of <i>THAP1</i>
sequence variants in German patients with primary dystonia<link href="#fn1"></link>
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dystonia</keyword>
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<supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p>
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<caption>Supporting Information Figure 1.</caption>
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<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the <i>TOR1A</i>
gene. Only recently, mutations in <i>THAP1</i>
have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the <i>THAP1</i>
gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that <i>THAP1</i>
sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society</p>
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<noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p>
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<note xml:id="fn2"><p>The first two authors contributed equally to this work.</p>
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<abstract lang="en">Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: Nothing to report.</note>
<subject lang="en"><genre>Keywords</genre>
<topic>dystonia</topic>
<topic>THAP1</topic>
<topic>high‐resolution melting</topic>
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