MovDisordV3, PascalFrancis, Curation, bibRecord, 000D39

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Identifieur interne : 000D39 ( PascalFrancis/Curation ); précédent : 000D38; suivant : 000D40

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Auteurs : Jacek Zaremba [Pologne] ; Hanna Mierzewska [Pologne] ; Zofia Lysiak [Pologne] ; Patricia Kramer [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Allison Brashear [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:05-0070319

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Liaison génétique, Chromosome, Dystonie, Parkinsonisme, Contrôle moteur.

English descriptors

KwdEn :
- Chromosome, Dystonia, Genetic linkage, Motor control, Nervous system diseases, Parkinsonism.

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.

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A11	`04`	`1`		`@1 KRAMER (Patricia)`
A11	`05`	`1`		`@1 OZELIUS (Laurie J.)`
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A14	`04`			`@1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 Bronx, New York @3 USA @Z 5 aut.`
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C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
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Pascal:05-0070319

Le document en format XML

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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>
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<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Génétique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Genetics</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Genética</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>038</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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   |wiki=    Wicri/Santé
   |area=    MovDisordV3
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   |texte=   Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13
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Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	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.

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

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English descriptors

Abstract

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