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Movement Disorders (revue)

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

Identifieur interne : 001F82 ( PascalFrancis/Corpus ); précédent : 001F81; suivant : 001F83

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

Auteurs : Jacek Zaremba ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison Brashear

Source :

RBID : Pascal:05-0070319

Descripteurs français

English descriptors

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03   1    @0 Mov. disord.
A05       @2 19
A06       @2 12
A08 01  1  ENG  @1 Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13
A11 01  1    @1 ZAREMBA (Jacek)
A11 02  1    @1 MIERZEWSKA (Hanna)
A11 03  1    @1 LYSIAK (Zofia)
A11 04  1    @1 KRAMER (Patricia)
A11 05  1    @1 OZELIUS (Laurie J.)
A11 06  1    @1 BRASHEAR (Allison)
A14 01      @1 Department of Genetics, Institute of Psychiatry and Neurology @2 Warsaw @3 POL @Z 1 aut. @Z 2 aut.
A14 02      @1 Department of Neurology, Institute of Psychiatry and Neurology @2 Warsaw @3 POL @Z 3 aut.
A14 03      @1 Department of Neurology, Oregon Health Sciences University @2 Portland, Oregon @3 USA @Z 4 aut.
A14 04      @1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 Bronx, New York @3 USA @Z 5 aut.
A14 05      @1 Department of Neurology, Indiana University School of Medicine @2 Indianapolis, Indiana @3 USA @Z 6 aut.
A20       @1 1506-1510
A21       @1 2004
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000125735400220
A44       @0 0000 @1 © 2005 INIST-CNRS. All rights reserved.
A45       @0 8 ref.
A47 01  1    @0 05-0070319
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 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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C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Liaison génétique @5 02
C03 02  X  ENG  @0 Genetic linkage @5 02
C03 02  X  SPA  @0 Ligamiento genético @5 02
C03 03  X  FRE  @0 Chromosome @5 03
C03 03  X  ENG  @0 Chromosome @5 03
C03 03  X  SPA  @0 Cromosoma @5 03
C03 04  X  FRE  @0 Dystonie @5 04
C03 04  X  ENG  @0 Dystonia @5 04
C03 04  X  SPA  @0 Distonía @5 04
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C03 05  X  ENG  @0 Parkinsonism @2 NM @5 07
C03 05  X  SPA  @0 Parkinson síndrome @2 NM @5 07
C03 06  X  FRE  @0 Contrôle moteur @5 25
C03 06  X  ENG  @0 Motor control @5 25
C03 06  X  SPA  @0 Control motor @5 25
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C07 01  X  ENG  @0 Extrapyramidal syndrome @5 37
C07 01  X  SPA  @0 Extrapiramidal síndrome @5 37
C07 02  X  FRE  @0 Mouvement involontaire @5 38
C07 02  X  ENG  @0 Involuntary movement @5 38
C07 02  X  SPA  @0 Movimiento involuntario @5 38
C07 03  X  FRE  @0 Muscle strié pathologie @5 39
C07 03  X  ENG  @0 Striated muscle disease @5 39
C07 03  X  SPA  @0 Músculo estriado patología @5 39
C07 04  X  FRE  @0 Trouble neurologique @5 40
C07 04  X  ENG  @0 Neurological disorder @5 40
C07 04  X  SPA  @0 Trastorno neurológico @5 40
C07 05  X  FRE  @0 Génétique @5 41
C07 05  X  ENG  @0 Genetics @5 41
C07 05  X  SPA  @0 Genética @5 41
C07 06  X  FRE  @0 Encéphale pathologie @5 42
C07 06  X  ENG  @0 Cerebral disorder @5 42
C07 06  X  SPA  @0 Encéfalo patología @5 42
C07 07  X  FRE  @0 Système nerveux central pathologie @5 43
C07 07  X  ENG  @0 Central nervous system disease @5 43
C07 07  X  SPA  @0 Sistema nervosio central patología @5 43
N21       @1 038
N44 01      @1 OTO
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Format Inist (serveur)

NO : PASCAL 05-0070319 INIST
ET : Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13
AU : ZAREMBA (Jacek); MIERZEWSKA (Hanna); LYSIAK (Zofia); KRAMER (Patricia); OZELIUS (Laurie J.); BRASHEAR (Allison)
AF : Department of Genetics, Institute of Psychiatry and Neurology/Warsaw/Pologne (1 aut., 2 aut.); Department of Neurology, Institute of Psychiatry and Neurology/Warsaw/Pologne (3 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (4 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (5 aut.); Department of Neurology, Indiana University School of Medicine/Indianapolis, Indiana/Etats-Unis (6 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 12; Pp. 1506-1510; Bibl. 8 ref.
LA : Anglais
EA : 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.
CC : 002B17; 002B17H; 002B17G
FD : Système nerveux pathologie; Liaison génétique; Chromosome; Dystonie; Parkinsonisme; Contrôle moteur
FG : Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Génétique; Encéphale pathologie; Système nerveux central pathologie
ED : Nervous system diseases; Genetic linkage; Chromosome; Dystonia; Parkinsonism; Motor control
EG : Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Genetics; Cerebral disorder; Central nervous system disease
SD : Sistema nervioso patología; Ligamiento genético; Cromosoma; Distonía; Parkinson síndrome; Control motor
LO : INIST-20953.354000125735400220
ID : 05-0070319

Links to Exploration step

Pascal:05-0070319

Le document en format XML

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<fC03 i1="06" i2="X" l="SPA">
<s0>Control motor</s0>
<s5>25</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Movimiento involuntario</s0>
<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>
<server>
<NO>PASCAL 05-0070319 INIST</NO>
<ET>Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13</ET>
<AU>ZAREMBA (Jacek); MIERZEWSKA (Hanna); LYSIAK (Zofia); KRAMER (Patricia); OZELIUS (Laurie J.); BRASHEAR (Allison)</AU>
<AF>Department of Genetics, Institute of Psychiatry and Neurology/Warsaw/Pologne (1 aut., 2 aut.); Department of Neurology, Institute of Psychiatry and Neurology/Warsaw/Pologne (3 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (4 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (5 aut.); Department of Neurology, Indiana University School of Medicine/Indianapolis, Indiana/Etats-Unis (6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 12; Pp. 1506-1510; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H; 002B17G</CC>
<FD>Système nerveux pathologie; Liaison génétique; Chromosome; Dystonie; Parkinsonisme; Contrôle moteur</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Génétique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Genetic linkage; Chromosome; Dystonia; Parkinsonism; Motor control</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Genetics; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Ligamiento genético; Cromosoma; Distonía; Parkinson síndrome; Control motor</SD>
<LO>INIST-20953.354000125735400220</LO>
<ID>05-0070319</ID>
</server>
</inist>
</record>

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