MovDisordV3, PubMed, Corpus, bibRecord, 001685

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Identifieur interne : 001685 ( PubMed/Corpus ); précédent : 001684; suivant : 001686

Prevalence 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 Grundmann

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.

RBID : pubmed:20669277

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Dystonic Disorders (genetics), European Continental Ancestry Group (genetics), Female, Genetic Variation, Germany, Humans, Male, Middle Aged, Mutation, Nuclear Proteins (genetics).
MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- geographic : Germany.
- genetics : Dystonic Disorders, European Continental Ancestry Group.
- Adolescent, Adult, Age of Onset, Female, Genetic Variation, Humans, Male, Middle Aged, Mutation.

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.

DOI: 10.1002/mds.23207
PubMed: 20669277

Links to Exploration step

pubmed:20669277

Le document en format XML

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<author><name sortKey="Sohn, Anne S" sort="Sohn, Anne S" uniqKey="Sohn A" first="Anne S" last="Söhn">Anne S. Söhn</name>
<affiliation><nlm:affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name>
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<author><name sortKey="Doetzer, Andrea Duarte" sort="Doetzer, Andrea Duarte" uniqKey="Doetzer A" first="Andrea Duarte" last="Doetzer">Andrea Duarte Doetzer</name>
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<author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name>
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<author><name sortKey="Felbor, Ute" sort="Felbor, Ute" uniqKey="Felbor U" first="Ute" last="Felbor">Ute Felbor</name>
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<author><name sortKey="Topka, Helge R" sort="Topka, Helge R" uniqKey="Topka H" first="Helge R" last="Topka">Helge R. Topka</name>
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<author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
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<author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name>
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<author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
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<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
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<author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Prevalence of THAP1 sequence variants in German patients with primary dystonia.</title>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Adult</term>
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<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonic Disorders (genetics)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Germany</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nuclear Proteins (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
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<term>European Continental Ancestry Group</term>
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<term>Adult</term>
<term>Age of Onset</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
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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.</div>
</front>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>© 2010 Movement Disorder Society.</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki