MovDisordV3, Main, Exploration, bibRecord, 002A79

Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia

Identifieur interne : 002A79 ( Main/Exploration ); précédent : 002A78; suivant : 002A80

Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia

Auteurs : Maria Fiorella Contarino [Pays-Bas] ; Elles Berger-Plantinga [Pays-Bas] ; Elisabeth M. J. Foncke [Pays-Bas] ; Katja Ritz [Pays-Bas] ; Jonke Mellema [Pays-Bas] ; Frank Baas [Pays-Bas] ; Johannes D. Speelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0536675

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Néerlandais.

English descriptors

KwdEn :
- Dutch, Dystonia, Nervous system diseases.

Abstract

We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were examined by two movement-disorder neurologists. Two other movement-disorder neurologists evaluated the videos independently. Subjects were classified as "affected," "possibly affected," or "not affected." A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio-cervical-brachial dystonia. Mean age at onset was 45.5 years (range, 39-56). Mean BFMDRS motor score was 4.4 (range, 1-8). Mean TWSTRS score (part I) was 11.3 (range, 8-23). Mutations in DYT1 gene and in the e-sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia.

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia</title>
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<author><name sortKey="Mellema, Jonke" sort="Mellema, Jonke" uniqKey="Mellema J" first="Jonke" last="Mellema">Jonke Mellema</name>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dutch</term>
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<front><div type="abstract" xml:lang="en">We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were examined by two movement-disorder neurologists. Two other movement-disorder neurologists evaluated the videos independently. Subjects were classified as "affected," "possibly affected," or "not affected." A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio-cervical-brachial dystonia. Mean age at onset was 45.5 years (range, 39-56). Mean BFMDRS motor score was 4.4 (range, 1-8). Mean TWSTRS score (part I) was 11.3 (range, 8-23). Mutations in DYT1 gene and in the e-sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia.</div>
</front>
</TEI>
<affiliations><list><country><li>Pays-Bas</li>
</country>
<region><li>Hollande-Septentrionale</li>
</region>
<settlement><li>Amsterdam</li>
</settlement>
</list>
<tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Fiorella Contarino, Maria" sort="Fiorella Contarino, Maria" uniqKey="Fiorella Contarino M" first="Maria" last="Fiorella Contarino">Maria Fiorella Contarino</name>
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<name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name>
<name sortKey="Berger Plantinga, Elles" sort="Berger Plantinga, Elles" uniqKey="Berger Plantinga E" first="Elles" last="Berger-Plantinga">Elles Berger-Plantinga</name>
<name sortKey="Foncke, Elisabeth M J" sort="Foncke, Elisabeth M J" uniqKey="Foncke E" first="Elisabeth M. J." last="Foncke">Elisabeth M. J. Foncke</name>
<name sortKey="Mellema, Jonke" sort="Mellema, Jonke" uniqKey="Mellema J" first="Jonke" last="Mellema">Jonke Mellema</name>
<name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name>
<name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name>
<name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D." last="Speelman">Johannes D. Speelman</name>
<name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
</country>
</tree>
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</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia

Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri