Prevalence of THAP1 sequence variants in German patients with primary dystonia
Identifieur interne : 000264 ( Main/Exploration ); précédent : 000263; suivant : 000265Prevalence of THAP1 sequence variants in German patients with primary dystonia
Auteurs : Anne S. Söhn [Allemagne] ; Nicola Glöckle [Allemagne] ; Andrea Duarte Doetzer [Allemagne] ; Günther Deuschl [Allemagne] ; Ute Felbor [Allemagne] ; Helge R. Topka [Allemagne] ; Ludger Schöls [Allemagne] ; Olaf Riess [Allemagne] ; Peter Bauer [Allemagne] ; Ulrich Müller [Allemagne] ; Kathrin Grundmann [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
English descriptors
- 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
Url:
DOI: 10.1002/mds.23207
Affiliations:
- Allemagne
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Schleswig-Holstein
- Kiel, Munich, Tübingen
- Université Louis-et-Maximilien de Munich
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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></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li><li>Munich</li><li>Tübingen</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Sohn, Anne S" sort="Sohn, Anne S" uniqKey="Sohn A" first="Anne S." last="Söhn">Anne S. Söhn</name></region><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><name sortKey="Doetzer, Andrea Duarte" sort="Doetzer, Andrea Duarte" uniqKey="Doetzer A" first="Andrea Duarte" last="Doetzer">Andrea Duarte Doetzer</name><name sortKey="Felbor, Ute" sort="Felbor, Ute" uniqKey="Felbor U" first="Ute" last="Felbor">Ute Felbor</name><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Topka, Helge R" sort="Topka, Helge R" uniqKey="Topka H" first="Helge R." last="Topka">Helge R. 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