MovDisordV3, PascalFrancis, Corpus, bibRecord, 001472

Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia

Identifieur interne : 001472 ( PascalFrancis/Corpus ); précédent : 001471; suivant : 001473

Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia

Auteurs : Friedrich Asmus ; Anita Devlin ; Marita Munz ; Alexander Zimprich ; Thomas Gasser ; Patrick F. Chinnery

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0069703

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Syndrome choréique, Myoclonie, Dystonie.

English descriptors

KwdEn :
- Chorea, Dystonia, Myoclonus, Nervous system diseases.

Abstract

Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.

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 22`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia`
A11	`01`	`1`		`@1 ASMUS (Friedrich)`
A11	`02`	`1`		`@1 DEVLIN (Anita)`
A11	`03`	`1`		`@1 MUNZ (Marita)`
A11	`04`	`1`		`@1 ZIMPRICH (Alexander)`
A11	`05`	`1`		`@1 GASSER (Thomas)`
A11	`06`	`1`		`@1 CHINNERY (Patrick F.)`
A14	`01`			`@1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen @2 Tuebingen @3 DEU @Z 1 aut. @Z 3 aut. @Z 5 aut.`
A14	`02`			`@1 Department of Paediatric Neurology, Newcastle General Hospital @2 Newcastle upon Tyne @3 GBR @Z 2 aut.`
A14	`03`			`@1 Department of Neurology, University Hospital @2 Vienna @3 AUT @Z 4 aut.`
A14	`04`			`@1 Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne @2 Newcastle upon Tyne @3 GBR @Z 6 aut.`
A20				`@1 2104-2109`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000174393170140`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 16 ref.`
A47	`01`	`1`		`@0 08-0069703`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C02	`03`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Syndrome choréique @5 02`
C03	`02`	`X`	`ENG`	`@0 Chorea @5 02`
C03	`02`	`X`	`SPA`	`@0 Corea síndrome @5 02`
C03	`03`	`X`	`FRE`	`@0 Myoclonie @5 03`
C03	`03`	`X`	`ENG`	`@0 Myoclonus @5 03`
C03	`03`	`X`	`SPA`	`@0 Mioclonia @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`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 43`
C07	`06`	`X`	`ENG`	`@0 Striated muscle disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Músculo estriado patología @5 43`
N21				`@1 035`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0069703 INIST
ET :	Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia
AU :	ASMUS (Friedrich); DEVLIN (Anita); MUNZ (Marita); ZIMPRICH (Alexander); GASSER (Thomas); CHINNERY (Patrick F.)
AF :	Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen/Tuebingen/Allemagne (1 aut., 3 aut., 5 aut.); Department of Paediatric Neurology, Newcastle General Hospital/Newcastle upon Tyne/Royaume-Uni (2 aut.); Department of Neurology, University Hospital/Vienna/Autriche (4 aut.); Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne/Newcastle upon Tyne/Royaume-Uni (6 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 14; Pp. 2104-2109; Bibl. 16 ref.
LA :	Anglais
EA :	Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.
CC :	002B17; 002B17H; 002B17A03
FD :	Pathologie du système nerveux; Syndrome choréique; Myoclonie; Dystonie
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du système nerveux central; Trouble neurologique; Pathologie du muscle strié
ED :	Nervous system diseases; Chorea; Myoclonus; Dystonia
EG :	Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Striated muscle disease
SD :	Sistema nervioso patología; Corea síndrome; Mioclonia; Distonía
LO :	INIST-20953.354000174393170140
ID :	08-0069703

Links to Exploration step

Pascal:08-0069703

Le document en format XML

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<author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name>
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<s2>Tuebingen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
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<author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name>
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<sZ>1 aut.</sZ>
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<front><div type="abstract" xml:lang="en">Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.</div>
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<fA14 i1="01"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen</s1>
<s2>Tuebingen</s2>
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<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
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<fA14 i1="02"><s1>Department of Paediatric Neurology, Newcastle General Hospital</s1>
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<fA14 i1="03"><s1>Department of Neurology, University Hospital</s1>
<s2>Vienna</s2>
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<sZ>4 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.</s0>
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<s5>01</s5>
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<s5>02</s5>
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<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mioclonia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Distonía</s0>
<s5>04</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>035</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 08-0069703 INIST</NO>
<ET>Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia</ET>
<AU>ASMUS (Friedrich); DEVLIN (Anita); MUNZ (Marita); ZIMPRICH (Alexander); GASSER (Thomas); CHINNERY (Patrick F.)</AU>
<AF>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen/Tuebingen/Allemagne (1 aut., 3 aut., 5 aut.); Department of Paediatric Neurology, Newcastle General Hospital/Newcastle upon Tyne/Royaume-Uni (2 aut.); Department of Neurology, University Hospital/Vienna/Autriche (4 aut.); Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne/Newcastle upon Tyne/Royaume-Uni (6 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 14; Pp. 2104-2109; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.</EA>
<CC>002B17; 002B17H; 002B17A03</CC>
<FD>Pathologie du   système nerveux; Syndrome choréique; Myoclonie; Dystonie</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du   système nerveux central; Trouble neurologique; Pathologie du muscle strié</FG>
<ED>Nervous system diseases; Chorea; Myoclonus; Dystonia</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Striated muscle disease</EG>
<SD>Sistema nervioso patología; Corea síndrome; Mioclonia; Distonía</SD>
<LO>INIST-20953.354000174393170140</LO>
<ID>08-0069703</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia

Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia

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