MovDisordV3, Ncbi, Merge, bibRecord, 001024

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Identifieur interne : 001024 ( Ncbi/Merge ); précédent : 001023; suivant : 001025

Rapid-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 Brashear

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.

RBID : pubmed:15390049

English descriptors

KwdEn :
- Adolescent, Adult, Amino Acid Sequence, Chromosomes, Human, Pair 19 (genetics), Dystonia (genetics), Female, Genetic Linkage (genetics), Genetic Markers, Humans, Male, Middle Aged, Molecular Sequence Data, Parkinsonian Disorders (genetics), Pedigree.
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

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pubmed:15390049

Le document en format XML

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<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>
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<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>
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<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>
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<author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name>
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<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>
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<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>
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<term>Molecular Sequence Data</term>
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<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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>2004 Movement Disorder Society.</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Source :

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki