Linkage studies in alcohol-responsive myoclonic dystonia.
Identifieur interne : 004B65 ( Ncbi/Checkpoint ); précédent : 004B64; suivant : 004B66Linkage studies in alcohol-responsive myoclonic dystonia.
Auteurs : T. Gasser [Allemagne] ; B. Bereznai ; B. Müller ; R. Pruszak-Seel ; R. Damrich ; G. Deuschl ; W H OertelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1996.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Alcohol Drinking (genetics), 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, Male, Middle Aged, 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 characterized 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, DYT1 (chromosome 9q34); the genes for subunits alpha 2, beta 1, and gamma 1 (chromosome 4p12-4q13); for alpha 1, alpha 6, beta 2, and gamma 2 (chromosome 5q31.1-5q31.3); for alpha 4, alpha 5, beta 3, and gamma 3 (chromosome 15q11-15q13); for rho 1 and rho 2 (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.
DOI: 10.1002/mds.870110403
PubMed: 8813214
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004817
- to stream PubMed, to step Curation: 004817
- to stream PubMed, to step Checkpoint: 004801
- to stream Ncbi, to step Merge: 004B65
- to stream Ncbi, to step Curation: 004B65
Links to Exploration step
pubmed:8813214Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Linkage studies in alcohol-responsive myoclonic dystonia.</title><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><affiliation wicri:level="3"><nlm:affiliation>Neurologische Klinik, Klinikum Grosshadern, München, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Klinikum Grosshadern, München</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></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 Seel, R" sort="Pruszak Seel, R" uniqKey="Pruszak Seel 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">PubMed</idno><date when="1996">1996</date><idno type="RBID">pubmed:8813214</idno><idno type="pmid">8813214</idno><idno type="doi">10.1002/mds.870110403</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></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Linkage studies in alcohol-responsive myoclonic dystonia.</title><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><affiliation wicri:level="3"><nlm:affiliation>Neurologische Klinik, Klinikum Grosshadern, München, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Klinikum Grosshadern, München</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></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 Seel, R" sort="Pruszak Seel, R" uniqKey="Pruszak Seel 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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1996" type="published">1996</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alcohol Drinking (genetics)</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>Male</term><term>Middle Aged</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></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 characterized 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, DYT1 (chromosome 9q34); the genes for subunits alpha 2, beta 1, and gamma 1 (chromosome 4p12-4q13); for alpha 1, alpha 6, beta 2, and gamma 2 (chromosome 5q31.1-5q31.3); for alpha 4, alpha 5, beta 3, and gamma 3 (chromosome 15q11-15q13); for rho 1 and rho 2 (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></region><settlement><li>Munich</li></settlement></list><tree><noCountry><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="Oertel, W H" sort="Oertel, W H" uniqKey="Oertel W" first="W H" last="Oertel">W H Oertel</name><name sortKey="Pruszak Seel, R" sort="Pruszak Seel, R" uniqKey="Pruszak Seel R" first="R" last="Pruszak-Seel">R. Pruszak-Seel</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004B65 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 004B65 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= pubmed:8813214
|texte= Linkage studies in alcohol-responsive myoclonic dystonia.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:8813214" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |