MovDisordV3, PascalFrancis, Corpus, bibRecord, 000E21

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

Identifieur interne : 000E21 ( PascalFrancis/Corpus ); précédent : 000E20; suivant : 000E22

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

Auteurs : Katja Ritz ; Justus L. Groen ; Jose J. M. Kruisdijk ; Frank Baas ; Johannes H. T. M. Koelman ; Marina A. J. Tijssen

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0349979

Descripteurs français

Pascal (Inist)
- Dystonie, Crampe écrivain, Pathologie du système nerveux, Dépistage, Homme.

English descriptors

KwdEn :
- Dystonia, Human, Medical screening, Nervous system diseases, Writer cramp.

Abstract

Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 24`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp`
A11	`01`	`1`		`@1 RITZ (Katja)`
A11	`02`	`1`		`@1 GROEN (Justus L.)`
A11	`03`	`1`		`@1 KRUISDIJK (Jose J. M.)`
A11	`04`	`1`		`@1 BAAS (Frank)`
A11	`05`	`1`		`@1 KOELMAN (Johannes H. T. M.)`
A11	`06`	`1`		`@1 TIJSSEN (Marina A. J.)`
A14	`01`			`@1 Department of Neurology, Academic Medical Centre, University of Amsterdam @2 Amsterdam @3 NLD @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 5 aut. @Z 6 aut.`
A14	`02`			`@1 Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam @2 Amsterdam @3 NLD @Z 1 aut. @Z 4 aut.`
A20				`@1 1390-1392`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000170902500210`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 7 ref.`
A47	`01`	`1`		`@0 09-0349979`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Crampe écrivain @5 02`
C03	`02`	`X`	`ENG`	`@0 Writer cramp @5 02`
C03	`02`	`X`	`SPA`	`@0 Calambre escribano @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Dépistage @5 09`
C03	`04`	`X`	`ENG`	`@0 Medical screening @5 09`
C03	`04`	`X`	`SPA`	`@0 Descubrimiento @5 09`
C03	`05`	`X`	`FRE`	`@0 Homme @5 10`
C03	`05`	`X`	`ENG`	`@0 Human @5 10`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 10`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
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 Pathologie du muscle strié @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 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
N21				`@1 257`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0349979 INIST
ET :	Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp
AU :	RITZ (Katja); GROEN (Justus L.); KRUISDIJK (Jose J. M.); BAAS (Frank); KOELMAN (Johannes H. T. M.); TIJSSEN (Marina A. J.)
AF :	Department of Neurology, Academic Medical Centre, University of Amsterdam/Amsterdam/Pays-Bas (1 aut., 2 aut., 3 aut., 5 aut., 6 aut.); Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam/Amsterdam/Pays-Bas (1 aut., 4 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 9; Pp. 1390-1392; Bibl. 7 ref.
LA :	Anglais
EA :	Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.
CC :	002B17; 002B17H
FD :	Dystonie; Crampe écrivain; Pathologie du système nerveux; Dépistage; Homme
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Dystonia; Writer cramp; Nervous system diseases; Medical screening; Human
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Calambre escribano; Sistema nervioso patología; Descubrimiento; Hombre
LO :	INIST-20953.354000170902500210
ID :	09-0349979

Links to Exploration step

Pascal:09-0349979

Le document en format XML

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<author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name>
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<author><name sortKey="Koelman, Johannes H T M" sort="Koelman, Johannes H T M" uniqKey="Koelman J" first="Johannes H. T. M." last="Koelman">Johannes H. T. M. Koelman</name>
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</keywords>
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<front><div type="abstract" xml:lang="en">Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.</div>
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<fA14 i1="02"><s1>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam</s1>
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<fC01 i1="01" l="ENG"><s0>Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.</s0>
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<s5>10</s5>
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<s5>10</s5>
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</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>Pathologie du muscle strié</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>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>257</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0349979 INIST</NO>
<ET>Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp</ET>
<AU>RITZ (Katja); GROEN (Justus L.); KRUISDIJK (Jose J. M.); BAAS (Frank); KOELMAN (Johannes H. T. M.); TIJSSEN (Marina A. J.)</AU>
<AF>Department of Neurology, Academic Medical Centre, University of Amsterdam/Amsterdam/Pays-Bas (1 aut., 2 aut., 3 aut., 5 aut., 6 aut.); Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam/Amsterdam/Pays-Bas (1 aut., 4 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 9; Pp. 1390-1392; Bibl. 7 ref.</SO>
<LA>Anglais</LA>
<EA>Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Crampe écrivain; Pathologie du   système nerveux; Dépistage; Homme</FD>
<FG>Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Dystonia; Writer cramp; Nervous system diseases; Medical screening; Human</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Calambre escribano; Sistema nervioso patología; Descubrimiento; Hombre</SD>
<LO>INIST-20953.354000170902500210</LO>
<ID>09-0349979</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

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