MovDisordV3, Main, Exploration, bibRecord, 005B79

Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset dystonia

Identifieur interne : 005B79 ( Main/Exploration ); précédent : 005B78; suivant : 005B80

Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset dystonia

Auteurs : Bressman [États-Unis] ; Hunt [États-Unis] ; Gary A. Heiman [États-Unis] ; Mitchell F. Brin [États-Unis] ; Robert E. Burke [États-Unis] ; Stanley Fahn [États-Unis] ; Joel M. Trugman [États-Unis] ; Deborah De Leon [États-Unis] ; Patricia L. Kramer [États-Unis] ; Kirk C. Wilhelmsen [États-Unis] ; Torbjoern G. Nygaard [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 1994.

RBID : ISTEX:84AA814AE07AAFA231131D4E4F21CA6379BFE783

Descripteurs français

Wicri :
- geographic : Allemagne.

English descriptors

KwdEn :
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 9, Dystonia, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Ethnic Groups (genetics), Female, Genetic, Genetic Linkage (genetics), Genetic Markers (genetics), Germany, Humans, Inherited, Jews (genetics), Linkage, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
MESH :
- chemical , genetics : Genetic Markers.
- geographic : Germany.
- diagnosis : Dystonia Musculorum Deformans.
- genetics : Dystonia Musculorum Deformans, Ethnic Groups, Genetic Linkage, Jews.
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.

Abstract

The DYT1 gene on chromosome 9q34 underlies idiopathic torsion dystonia (ITD) in Jewish and non‐Jewish families with childhood and adolescent‐onset dystonia that usually starts in a limb, spreads to other limbs, and uncommonly involves cranial muscles. We examined 39 members of a Mennonite family of German ancestry in which seven were affected with ITD. Age at onset was 14.7 years (range 5–34 years) and symptoms began in a limb in four. The remaining three had onset in the neck, face, and larynx. Dystonia progressed to involve at least one arm and one leg in all seven and there was cranial involvement in six. Five of these six had moderate or severe speech impairment. Linkage analysis with 9q34 markers excluded the region containing the DYT1 locus in this family. This study suggests that a gene other than DYT1 underlies some cases of early limb‐onset ITD. The clinical features of prominent cranial involvement and impaired speech distinguish this “non‐DYT1” early‐onset ITD family from the typical DYT1 phenotype.

Url:

https://api.istex.fr/document/84AA814AE07AAFA231131D4E4F21CA6379BFE783/fulltext/pdf

DOI: 10.1002/mds.870090608

Affiliations:

Le document en format XML

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<author><name sortKey="Hunt" sort="Hunt" uniqKey="Hunt" last="Hunt">Hunt</name>
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<author><name sortKey="Heiman, Gary A" sort="Heiman, Gary A" uniqKey="Heiman G" first="Gary A." last="Heiman">Gary A. Heiman</name>
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<author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name>
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<author><name sortKey="Burke, Robert E" sort="Burke, Robert E" uniqKey="Burke R" first="Robert E." last="Burke">Robert E. Burke</name>
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<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
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<author><name sortKey="Trugman, Joel M" sort="Trugman, Joel M" uniqKey="Trugman J" first="Joel M." last="Trugman">Joel M. Trugman</name>
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<author><name sortKey="De Leon, Deborah" sort="De Leon, Deborah" uniqKey="De Leon D" first="Deborah" last="De Leon">Deborah De Leon</name>
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<author><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L." last="Kramer">Patricia L. Kramer</name>
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<author><name sortKey="Wilhelmsen, Kirk C" sort="Wilhelmsen, Kirk C" uniqKey="Wilhelmsen K" first="Kirk C." last="Wilhelmsen">Kirk C. Wilhelmsen</name>
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<author><name sortKey="Nygaard, Torbjoern G" sort="Nygaard, Torbjoern G" uniqKey="Nygaard T" first="Torbjoern G." last="Nygaard">Torbjoern G. Nygaard</name>
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<placeName><region type="state">Washington (État)</region>
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<author><name sortKey="Heiman, Gary A" sort="Heiman, Gary A" uniqKey="Heiman G" first="Gary A." last="Heiman">Gary A. Heiman</name>
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<author><name sortKey="Burke, Robert E" sort="Burke, Robert E" uniqKey="Burke R" first="Robert E." last="Burke">Robert E. Burke</name>
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<placeName><region type="state">État de New York</region>
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<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
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</affiliation>
</author>
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<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Virginia Health Sciences Center, Charlottesville</wicri:cityArea>
</affiliation>
</author>
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<author><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L." last="Kramer">Patricia L. Kramer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Oregon Health Sciences University, Portland, Oregon</wicri:regionArea>
<placeName><region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilhelmsen, Kirk C" sort="Wilhelmsen, Kirk C" uniqKey="Wilhelmsen K" first="Kirk C." last="Wilhelmsen">Kirk C. Wilhelmsen</name>
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<placeName><region type="state">État de New York</region>
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</affiliation>
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<author><name sortKey="Nygaard, Torbjoern G" sort="Nygaard, Torbjoern G" uniqKey="Nygaard T" first="Torbjoern G." last="Nygaard">Torbjoern G. Nygaard</name>
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<placeName><region type="state">État de New York</region>
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</affiliation>
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<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="1994">1994</date>
<biblScope unit="vol">9</biblScope>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Dystonia</term>
<term>Dystonia Musculorum Deformans (diagnosis)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Ethnic Groups (genetics)</term>
<term>Female</term>
<term>Genetic</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetic Markers (genetics)</term>
<term>Germany</term>
<term>Humans</term>
<term>Inherited</term>
<term>Jews (genetics)</term>
<term>Linkage</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
<term>Ethnic Groups</term>
<term>Genetic Linkage</term>
<term>Jews</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">The DYT1 gene on chromosome 9q34 underlies idiopathic torsion dystonia (ITD) in Jewish and non‐Jewish families with childhood and adolescent‐onset dystonia that usually starts in a limb, spreads to other limbs, and uncommonly involves cranial muscles. We examined 39 members of a Mennonite family of German ancestry in which seven were affected with ITD. Age at onset was 14.7 years (range 5–34 years) and symptoms began in a limb in four. The remaining three had onset in the neck, face, and larynx. Dystonia progressed to involve at least one arm and one leg in all seven and there was cranial involvement in six. Five of these six had moderate or severe speech impairment. Linkage analysis with 9q34 markers excluded the region containing the DYT1 locus in this family. This study suggests that a gene other than DYT1 underlies some cases of early limb‐onset ITD. The clinical features of prominent cranial involvement and impaired speech distinguish this “non‐DYT1” early‐onset ITD family from the typical DYT1 phenotype.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Oregon</li>
<li>Virginie</li>
<li>Washington (État)</li>
<li>État de New York</li>
</region>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Bressman" sort="Bressman" uniqKey="Bressman" last="Bressman">Bressman</name>
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<name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name>
<name sortKey="Burke, Robert E" sort="Burke, Robert E" uniqKey="Burke R" first="Robert E." last="Burke">Robert E. Burke</name>
<name sortKey="De Leon, Deborah" sort="De Leon, Deborah" uniqKey="De Leon D" first="Deborah" last="De Leon">Deborah De Leon</name>
<name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
<name sortKey="Heiman, Gary A" sort="Heiman, Gary A" uniqKey="Heiman G" first="Gary A." last="Heiman">Gary A. Heiman</name>
<name sortKey="Hunt" sort="Hunt" uniqKey="Hunt" last="Hunt">Hunt</name>
<name sortKey="Hunt" sort="Hunt" uniqKey="Hunt" last="Hunt">Hunt</name>
<name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L." last="Kramer">Patricia L. Kramer</name>
<name sortKey="Nygaard, Torbjoern G" sort="Nygaard, Torbjoern G" uniqKey="Nygaard T" first="Torbjoern G." last="Nygaard">Torbjoern G. Nygaard</name>
<name sortKey="Trugman, Joel M" sort="Trugman, Joel M" uniqKey="Trugman J" first="Joel M." last="Trugman">Joel M. Trugman</name>
<name sortKey="Wilhelmsen, Kirk C" sort="Wilhelmsen, Kirk C" uniqKey="Wilhelmsen K" first="Kirk C." last="Wilhelmsen">Kirk C. Wilhelmsen</name>
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Movement Disorders (revue)

Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset dystonia

Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset 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

	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.