MovDisordV3, Main, Exploration, bibRecord, 005622

Linkage studies in alcohol‐responsive myoclonic dystonia

Identifieur interne : 005622 ( Main/Exploration ); précédent : 005621; suivant : 005623

Linkage studies in alcohol‐responsive myoclonic dystonia

Auteurs : Gasser [Allemagne] ; B. Bereznai [Allemagne] ; B. Müller [Allemagne] ; R. Pruszak-Seel [Allemagne] ; R. Damrich [Allemagne] ; G. Deuschl [Allemagne] ; W. H. Oertel [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 1996-07.

RBID : ISTEX:FCC944E8CB197BF93D2CBA285E0A723864E846F8

Descripteurs français

Wicri :
- geographic : Allemagne.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Alcohol Drinking (genetics), Candidate gene, Child, Chromosome Aberrations (genetics), Chromosome Disorders, Chromosome Mapping, Dystonia (genetics), Dystonia (therapy), Female, Genes, Dominant (genetics), Genetic Linkage (genetics), Genetic Markers (genetics), Germany, Heterozygote Detection, Humans, Linkage analysis, Male, Middle Aged, Myoclonic dystonia, Myoclonus (genetics), Myoclonus (therapy), Neurologic Examination, Pedigree, Phenotype, Receptors, Glycine (genetics).
MESH :
- chemical , genetics : Genetic Markers, Receptors, Glycine.
- geographic : Germany.
- genetics : Alcohol Drinking, Chromosome Aberrations, Dystonia, Genes, Dominant, Genetic Linkage, Myoclonus.
- therapy : Dystonia, Myoclonus.
- Adolescent, Adult, Aged, Child, Chromosome Disorders, Chromosome Mapping, Female, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.

Abstract

A large German family with “myoclonic dystonia with lightning jerks responsive to alcohol” was identified. Eleven affected pedigree members and six obligate gene carriers from five generations were identified. A description of one branch of this pedigree was published in 1964. Our examination 30 years after the initial report confirms the clinical syndrome of a nonprogressive movement disorder charcterized by myoclonic jerks affecting the proximal muscles and the muscles of the trunk, accompanied by mild dystonic features in some affected family members. Segregation analysis favors autosomal dominant inheritance with high, but incomplete, penetrance in males and much lower penetrance in females. Linkage analysis was performed using simple sequence repeat polymorphisms (CA repeats) closely associated with or spanning the chromosomal regions containing 15 candidate genes: the gene for early‐onset generalized torsion dystonia, DYTI (chromosome 9q34); the genes for subunits α2, β1, and γ1 (chromosome 4p12–4q13);for α1,α6,β2 and γ2(chromosome 5q31.1–5q31.3); for α4,α5,β3, and γ3 (chromosome 15q11–15q13); for ρ1 and ρ2 (chromosome 6q14–6q21) of the gamma‐aminobutyric acid A receptor; and for the alpha subunit of the glycine receptor (chromosome 5q31). By a combination of pairwise and multipoint linkage analysis, it could be excluded that any of these candidate gene bearing chromosomal regions contain the disease gene in this family. We also excluded major portions of three chromosomal regions syntenic with mouse chromosome 3, which carries the murine beta subunit of the glycine receptor.

Url:

https://api.istex.fr/document/FCC944E8CB197BF93D2CBA285E0A723864E846F8/fulltext/pdf

DOI: 10.1002/mds.870110403

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Linkage studies in alcohol‐responsive myoclonic dystonia</title>
<author><name sortKey="Gasser" sort="Gasser" uniqKey="Gasser" last="Gasser">Gasser</name>
</author>
<author><name sortKey="Bereznai, B" sort="Bereznai, B" uniqKey="Bereznai B" first="B." last="Bereznai">B. Bereznai</name>
</author>
<author><name sortKey="Muller, B" sort="Muller, B" uniqKey="Muller B" first="B." last="Müller">B. Müller</name>
</author>
<author><name sortKey="Pruszak Eel, R" sort="Pruszak Eel, R" uniqKey="Pruszak Eel R" first="R." last="Pruszak-Seel">R. Pruszak-Seel</name>
</author>
<author><name sortKey="Damrich, R" sort="Damrich, R" uniqKey="Damrich R" first="R." last="Damrich">R. Damrich</name>
</author>
<author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name>
</author>
<author><name sortKey="Oertel, W H" sort="Oertel, W H" uniqKey="Oertel W" first="W. H." last="Oertel">W. H. Oertel</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:FCC944E8CB197BF93D2CBA285E0A723864E846F8</idno>
<date when="1996" year="1996">1996</date>
<idno type="doi">10.1002/mds.870110403</idno>
<idno type="url">https://api.istex.fr/document/FCC944E8CB197BF93D2CBA285E0A723864E846F8/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">000A32</idno>
<idno type="wicri:Area/Istex/Curation">000A32</idno>
<idno type="wicri:Area/Istex/Checkpoint">003B24</idno>
<idno type="wicri:doubleKey">0885-3185:1996:Gasser:linkage:studies:in</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:8813214</idno>
<idno type="wicri:Area/PubMed/Corpus">004817</idno>
<idno type="wicri:Area/PubMed/Curation">004817</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004801</idno>
<idno type="wicri:Area/Ncbi/Merge">004B65</idno>
<idno type="wicri:Area/Ncbi/Curation">004B65</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004B65</idno>
<idno type="wicri:doubleKey">0885-3185:1996:Gasser T:linkage:studies:in</idno>
<idno type="wicri:Area/Main/Merge">008728</idno>
<idno type="wicri:Area/Main/Curation">005622</idno>
<idno type="wicri:Area/Main/Exploration">005622</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Linkage studies in alcohol‐responsive myoclonic dystonia</title>
<author><name sortKey="Gasser" sort="Gasser" uniqKey="Gasser" last="Gasser">Gasser</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik, Klinikum Grosshadern, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bereznai, B" sort="Bereznai, B" uniqKey="Bereznai B" first="B." last="Bereznai">B. Bereznai</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik, Klinikum Grosshadern, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Muller, B" sort="Muller, B" uniqKey="Muller B" first="B." last="Müller">B. Müller</name>
<affiliation wicri:level="3"><country>Allemagne</country>
<placeName><settlement type="city">Munich</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
</placeName>
<wicri:orgArea>Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Ludwig‐Maximilians‐Universität</wicri:orgArea>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Current Address: Bernhard‐Nocht Institut für Tropenmedizin, Hamburg</wicri:regionArea>
<placeName><settlement type="city">Hambourg</settlement>
<region type="land" nuts="2">Hambourg</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pruszak Eel, R" sort="Pruszak Eel, R" uniqKey="Pruszak Eel R" first="R." last="Pruszak-Seel">R. Pruszak-Seel</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Gesundheitsamt Norden, Norden, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Damrich, R" sort="Damrich, R" uniqKey="Damrich R" first="R." last="Damrich">R. Damrich</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Gesundheitsamt Norden, Norden, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Oertel, W H" sort="Oertel, W H" uniqKey="Oertel W" first="W. H." last="Oertel">W. H. Oertel</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik, Klinikum Grosshadern, Universtiät Christian‐Albrecht, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Current Address: Phillips‐Universitat Marburg</wicri:regionArea>
</affiliation>
</author>
</analytic>
<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="1996-07">1996-07</date>
<biblScope unit="vol">11</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="363">363</biblScope>
<biblScope unit="page" to="370">370</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">FCC944E8CB197BF93D2CBA285E0A723864E846F8</idno>
<idno type="DOI">10.1002/mds.870110403</idno>
<idno type="ArticleID">MDS870110403</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Alcohol Drinking (genetics)</term>
<term>Candidate gene</term>
<term>Child</term>
<term>Chromosome Aberrations (genetics)</term>
<term>Chromosome Disorders</term>
<term>Chromosome Mapping</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (therapy)</term>
<term>Female</term>
<term>Genes, Dominant (genetics)</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetic Markers (genetics)</term>
<term>Germany</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Linkage analysis</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Myoclonic dystonia</term>
<term>Myoclonus (genetics)</term>
<term>Myoclonus (therapy)</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Receptors, Glycine (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term>
<term>Receptors, Glycine</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alcohol Drinking</term>
<term>Chromosome Aberrations</term>
<term>Dystonia</term>
<term>Genes, Dominant</term>
<term>Genetic Linkage</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Chromosome Disorders</term>
<term>Chromosome Mapping</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A large German family with “myoclonic dystonia with lightning jerks responsive to alcohol” was identified. Eleven affected pedigree members and six obligate gene carriers from five generations were identified. A description of one branch of this pedigree was published in 1964. Our examination 30 years after the initial report confirms the clinical syndrome of a nonprogressive movement disorder charcterized by myoclonic jerks affecting the proximal muscles and the muscles of the trunk, accompanied by mild dystonic features in some affected family members. Segregation analysis favors autosomal dominant inheritance with high, but incomplete, penetrance in males and much lower penetrance in females. Linkage analysis was performed using simple sequence repeat polymorphisms (CA repeats) closely associated with or spanning the chromosomal regions containing 15 candidate genes: the gene for early‐onset generalized torsion dystonia, DYTI (chromosome 9q34); the genes for subunits α2, β1, and γ1 (chromosome 4p12–4q13);for α1,α6,β2 and γ2(chromosome 5q31.1–5q31.3); for α4,α5,β3, and γ3 (chromosome 15q11–15q13); for ρ1 and ρ2 (chromosome 6q14–6q21) of the gamma‐aminobutyric acid A receptor; and for the alpha subunit of the glycine receptor (chromosome 5q31). By a combination of pairwise and multipoint linkage analysis, it could be excluded that any of these candidate gene bearing chromosomal regions contain the disease gene in this family. We also excluded major portions of three chromosomal regions syntenic with mouse chromosome 3, which carries the murine beta subunit of the glycine receptor.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
</country>
<region><li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Hambourg</li>
<li>Schleswig-Holstein</li>
</region>
<settlement><li>Hambourg</li>
<li>Kiel</li>
<li>Munich</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Gasser" sort="Gasser" uniqKey="Gasser" last="Gasser">Gasser</name>
</region>
<name sortKey="Bereznai, B" sort="Bereznai, B" uniqKey="Bereznai B" first="B." last="Bereznai">B. Bereznai</name>
<name sortKey="Damrich, R" sort="Damrich, R" uniqKey="Damrich R" first="R." last="Damrich">R. Damrich</name>
<name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name>
<name sortKey="Muller, B" sort="Muller, B" uniqKey="Muller B" first="B." last="Müller">B. Müller</name>
<name sortKey="Muller, B" sort="Muller, B" uniqKey="Muller B" first="B." last="Müller">B. Müller</name>
<name sortKey="Oertel, W H" sort="Oertel, W H" uniqKey="Oertel W" first="W. H." last="Oertel">W. H. Oertel</name>
<name sortKey="Oertel, W H" sort="Oertel, W H" uniqKey="Oertel W" first="W. H." last="Oertel">W. H. Oertel</name>
<name sortKey="Pruszak Eel, R" sort="Pruszak Eel, R" uniqKey="Pruszak Eel R" first="R." last="Pruszak-Seel">R. Pruszak-Seel</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005622 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005622 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:FCC944E8CB197BF93D2CBA285E0A723864E846F8
   |texte=   Linkage studies in alcohol‐responsive myoclonic dystonia
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Linkage studies in alcohol‐responsive myoclonic dystonia

Linkage studies in alcohol‐responsive myoclonic 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.