MovDisordV3, PascalFrancis, Curation, bibRecord, 002703

Movement Disorders in Spinocerebellar Ataxias

Identifieur interne : 002703 ( PascalFrancis/Curation ); précédent : 002702; suivant : 002704

Movement Disorders in Spinocerebellar Ataxias

Auteurs : Judith Van Gaalen [Pays-Bas] ; Paola Giunti [Royaume-Uni] ; Bart P. Van De Warrenburg [Pays-Bas]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0228422

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Ataxie spinocérébelleuse, Ataxie cérébelleuse, Noyau gris central.

English descriptors

KwdEn :
- Basal ganglion, Cerebellar ataxia, Nervous system diseases, Spinocerebellar ataxia.

Abstract

Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease-like presentation without an HTT mutation.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 26`
A06				`@2 5`
A08	`01`	`1`	`ENG`	`@1 Movement Disorders in Spinocerebellar Ataxias`
A11	`01`	`1`		`@1 VAN GAALEN (Judith)`
A11	`02`	`1`		`@1 GIUNTI (Paola)`
A11	`03`	`1`		`@1 VAN DE WARRENBURG (Bart P.)`
A14	`01`			`@1 Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre @2 Nijmegen @3 NLD @Z 1 aut. @Z 3 aut.`
A14	`02`			`@1 Department of Molecular Neuroscience, Institute of Neurology, Queen Square @2 London @3 GBR @Z 2 aut.`
A20				`@1 792-800`
A21				`@1 2011`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000189767620040`
A44				`@0 0000 @1 © 2011 INIST-CNRS. All rights reserved.`
A45				`@0 111 ref.`
A47	`01`	`1`		`@0 11-0228422`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease-like presentation without an HTT mutation.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
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 Ataxie spinocérébelleuse @2 NM @5 09`
C03	`02`	`X`	`ENG`	`@0 Spinocerebellar ataxia @2 NM @5 09`
C03	`02`	`X`	`SPA`	`@0 Ataxia spinocerebelosa @2 NM @5 09`
C03	`03`	`X`	`FRE`	`@0 Ataxie cérébelleuse @2 NM @5 10`
C03	`03`	`X`	`ENG`	`@0 Cerebellar ataxia @2 NM @5 10`
C03	`03`	`X`	`SPA`	`@0 Ataxia cerebelosa @2 NM @5 10`
C03	`04`	`X`	`FRE`	`@0 Noyau gris central @5 11`
C03	`04`	`X`	`ENG`	`@0 Basal ganglion @5 11`
C03	`04`	`X`	`SPA`	`@0 Núcleo basal @5 11`
C07	`01`	`X`	`FRE`	`@0 Maladie dégénérative @5 37`
C07	`01`	`X`	`ENG`	`@0 Degenerative disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Genetic disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 39`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Encéphale @5 41`
C07	`04`	`X`	`ENG`	`@0 Encephalon @5 41`
C07	`04`	`X`	`SPA`	`@0 Encéfalo @5 41`
C07	`05`	`X`	`FRE`	`@0 Système nerveux central @5 42`
C07	`05`	`X`	`ENG`	`@0 Central nervous system @5 42`
C07	`05`	`X`	`SPA`	`@0 Sistema nervioso central @5 42`
N21				`@1 150`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000615

Links to Exploration step

Pascal:11-0228422

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Movement Disorders in Spinocerebellar Ataxias</title>
<author><name sortKey="Van Gaalen, Judith" sort="Van Gaalen, Judith" uniqKey="Van Gaalen J" first="Judith" last="Van Gaalen">Judith Van Gaalen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
</affiliation>
</author>
<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">11-0228422</idno>
<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0228422 INIST</idno>
<idno type="RBID">Pascal:11-0228422</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000615</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002703</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Movement Disorders in Spinocerebellar Ataxias</title>
<author><name sortKey="Van Gaalen, Judith" sort="Van Gaalen, Judith" uniqKey="Van Gaalen J" first="Judith" last="Van Gaalen">Judith Van Gaalen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
</affiliation>
</author>
<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Basal ganglion</term>
<term>Cerebellar ataxia</term>
<term>Nervous system diseases</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Ataxie spinocérébelleuse</term>
<term>Ataxie cérébelleuse</term>
<term>Noyau gris central</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease-like presentation without an HTT mutation.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>26</s2>
</fA05>
<fA06><s2>5</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Movement Disorders in Spinocerebellar Ataxias</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>VAN GAALEN (Judith)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>GIUNTI (Paola)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>VAN DE WARRENBURG (Bart P.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA20><s1>792-800</s1>
</fA20>
<fA21><s1>2011</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000189767620040</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>111 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>11-0228422</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease-like presentation without an HTT mutation.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Ataxie spinocérébelleuse</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Ataxie cérébelleuse</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Cerebellar ataxia</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Ataxia cerebelosa</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Noyau gris central</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Basal ganglion</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Núcleo basal</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Encephalon</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso central</s0>
<s5>42</s5>
</fC07>
<fN21><s1>150</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002703 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 002703 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:11-0228422
   |texte=   Movement Disorders in Spinocerebellar Ataxias
}}

This area was generated with Dilib version V0.6.23.
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)

Movement Disorders in Spinocerebellar Ataxias

Movement Disorders in Spinocerebellar Ataxias

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri