Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Identifieur interne : 001024 ( Ncbi/Checkpoint ); précédent : 001023; suivant : 001025Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Auteurs : Jacek Zaremba [Pologne] ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison BrashearSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- MESH :
- chemical : Genetic Markers.
- genetics : Chromosomes, Human, Pair 19, Dystonia, Genetic Linkage, Parkinsonian Disorders.
- Adolescent, Adult, Amino Acid Sequence, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree.
Abstract
Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.
DOI: 10.1002/mds.20258
PubMed: 15390049
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003264
- to stream PubMed, to step Curation: 003264
- to stream PubMed, to step Checkpoint: 003340
- to stream Ncbi, to step Merge: 001024
- to stream Ncbi, to step Curation: 001024
Links to Exploration step
pubmed:15390049Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</title>
<author><name sortKey="Zaremba, Jacek" sort="Zaremba, Jacek" uniqKey="Zaremba J" first="Jacek" last="Zaremba">Jacek Zaremba</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. zaremba@ipin.edu.pl</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
</author>
<author><name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name>
</author>
<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2004">2004</date>
<idno type="RBID">pubmed:15390049</idno>
<idno type="pmid">15390049</idno>
<idno type="doi">10.1002/mds.20258</idno>
<idno type="wicri:Area/PubMed/Corpus">003264</idno>
<idno type="wicri:Area/PubMed/Curation">003264</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003340</idno>
<idno type="wicri:Area/Ncbi/Merge">001024</idno>
<idno type="wicri:Area/Ncbi/Curation">001024</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001024</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</title>
<author><name sortKey="Zaremba, Jacek" sort="Zaremba, Jacek" uniqKey="Zaremba J" first="Jacek" last="Zaremba">Jacek Zaremba</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. zaremba@ipin.edu.pl</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
</author>
<author><name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name>
</author>
<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</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="2004" type="published">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Chromosomes, Human, Pair 19 (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetic Markers</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 19</term>
<term>Dystonia</term>
<term>Genetic Linkage</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.</div>
</front>
</TEI>
<affiliations><list><country><li>Pologne</li>
</country>
</list>
<tree><noCountry><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name>
<name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name>
<name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</noCountry>
<country name="Pologne"><noRegion><name sortKey="Zaremba, Jacek" sort="Zaremba, Jacek" uniqKey="Zaremba J" first="Jacek" last="Zaremba">Jacek Zaremba</name>
</noRegion>
</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 001024 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 001024 | 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:15390049 |texte= Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:15390049" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |