MovDisordV3, PascalFrancis, Corpus, bibRecord, 000C73

A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation

Identifieur interne : 000C73 ( PascalFrancis/Corpus ); précédent : 000C72; suivant : 000C74

A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation

Auteurs : Patric Blomstedt ; Marwan I. Hariz ; Stephen Tisch ; Monica Holmberg ; Tommy A. Bergenheim ; Lars Forsgren

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:10-0071239

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Torsion, Suède, Traitement, Stimulation cérébrale profonde.

English descriptors

KwdEn :
- Deep brain stimulation, Dystonia, Nervous system diseases, Sweden, Torsion, Treatment.

Abstract

To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
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A11	`01`	`1`		`@1 BLOMSTEDT (Patric)`
A11	`02`	`1`		`@1 HARIZ (Marwan I.)`
A11	`03`	`1`		`@1 TISCH (Stephen)`
A11	`04`	`1`		`@1 HOLMBERG (Monica)`
A11	`05`	`1`		`@1 BERGENHEIM (Tommy A.)`
A11	`06`	`1`		`@1 FORSGREN (Lars)`
A14	`01`			`@1 Department of Neurosurgery, University Hospital of Northern Sweden @2 Umeå @3 SWE @Z 1 aut. @Z 2 aut. @Z 5 aut.`
A14	`02`			`@1 Institute of Neurology, Queen Square @2 London @3 GBR @Z 2 aut.`
A14	`03`			`@1 Department of Neurology, St Vincent's Hospital @2 Sydney @3 AUS @Z 3 aut.`
A14	`04`			`@1 Department of Medical BioscienceslUnit for Medical and Clinical Genetics, Umeå University @2 Umeå @3 SWE @Z 4 aut.`
A14	`05`			`@1 Department of Neurology, University Hospital of Northern Sweden @2 Umeå @3 SWE @Z 6 aut.`
A20				`@1 2415-2419`
A21				`@1 2009`
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A43	`01`			`@1 INIST @2 20953 @5 354000190005540170`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 22 ref.`
A47	`01`	`1`		`@0 10-0071239`
A60				`@1 P @3 CC`
A61				`@0 A`
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C01	`01`		`ENG`	@0 To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.
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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 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Torsion @5 09`
C03	`03`	`X`	`ENG`	`@0 Torsion @5 09`
C03	`03`	`X`	`SPA`	`@0 Torsión @5 09`
C03	`04`	`X`	`FRE`	`@0 Suède @2 NG @5 10`
C03	`04`	`X`	`ENG`	`@0 Sweden @2 NG @5 10`
C03	`04`	`X`	`SPA`	`@0 Suecia @2 NG @5 10`
C03	`05`	`X`	`FRE`	`@0 Traitement @5 11`
C03	`05`	`X`	`ENG`	`@0 Treatment @5 11`
C03	`05`	`X`	`SPA`	`@0 Tratamiento @5 11`
C03	`06`	`X`	`FRE`	`@0 Stimulation cérébrale profonde @4 CD @5 96`
C03	`06`	`X`	`ENG`	`@0 Deep brain stimulation @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Europe @2 NG`
C07	`01`	`X`	`ENG`	`@0 Europe @2 NG`
C07	`01`	`X`	`SPA`	`@0 Europa @2 NG`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`04`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`04`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`04`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`06`	`X`	`FRE`	`@0 Pathologie de l'encéphale @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 Pathologie du système nerveux central @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				`@1 046`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0071239 INIST
ET :	A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation
AU :	BLOMSTEDT (Patric); HARIZ (Marwan I.); TISCH (Stephen); HOLMBERG (Monica); BERGENHEIM (Tommy A.); FORSGREN (Lars)
AF :	Department of Neurosurgery, University Hospital of Northern Sweden/Umeå/Suède (1 aut., 2 aut., 5 aut.); Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.); Department of Neurology, St Vincent's Hospital/Sydney/Australie (3 aut.); Department of Medical BioscienceslUnit for Medical and Clinical Genetics, Umeå University/Umeå/Suède (4 aut.); Department of Neurology, University Hospital of Northern Sweden/Umeå/Suède (6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2415-2419; Bibl. 22 ref.
LA :	Anglais
EA :	To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.
CC :	002B17; 002B17H
FD :	Dystonie; Pathologie du système nerveux; Torsion; Suède; Traitement; Stimulation cérébrale profonde
FG :	Europe; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Dystonia; Nervous system diseases; Torsion; Sweden; Treatment; Deep brain stimulation
EG :	Europe; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Sistema nervioso patología; Torsión; Suecia; Tratamiento
LO :	INIST-20953.354000190005540170
ID :	10-0071239

Links to Exploration step

Pascal:10-0071239

Le document en format XML

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<front><div type="abstract" xml:lang="en">To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.</div>
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<fC01 i1="01" l="ENG"><s0>To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.</s0>
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<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Torsion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Torsion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Torsión</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Suède</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Sweden</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Suecia</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Traitement</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Treatment</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Tratamiento</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Stimulation cérébrale profonde</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Deep brain stimulation</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Europa</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de l'encéphale</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>Pathologie du   système nerveux central</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>046</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 10-0071239 INIST</NO>
<ET>A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation</ET>
<AU>BLOMSTEDT (Patric); HARIZ (Marwan I.); TISCH (Stephen); HOLMBERG (Monica); BERGENHEIM (Tommy A.); FORSGREN (Lars)</AU>
<AF>Department of Neurosurgery, University Hospital of Northern Sweden/Umeå/Suède (1 aut., 2 aut., 5 aut.); Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.); Department of Neurology, St Vincent's Hospital/Sydney/Australie (3 aut.); Department of Medical BioscienceslUnit for Medical and Clinical Genetics, Umeå University/Umeå/Suède (4 aut.); Department of Neurology, University Hospital of Northern Sweden/Umeå/Suède (6 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. 16; Pp. 2415-2419; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 ± 24 to 9 ± 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Pathologie du   système nerveux; Torsion; Suède; Traitement; Stimulation cérébrale profonde</FD>
<FG>Europe; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Dystonia; Nervous system diseases; Torsion; Sweden; Treatment; Deep brain stimulation</ED>
<EG>Europe; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Sistema nervioso patología; Torsión; Suecia; Tratamiento</SD>
<LO>INIST-20953.354000190005540170</LO>
<ID>10-0071239</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation

A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation

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