MovDisordV3, PascalFrancis, Corpus, bibRecord, 001846

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Identifieur interne : 001846 ( PascalFrancis/Corpus ); précédent : 001845; suivant : 001847

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Auteurs : Alberto J. Espay ; Catherine Bergeron ; Robert Chen ; Anthony E. Lang

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:07-0090893

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Atrophie, Ataxie, Choréoathétose, Sporadique, Inclusion.

English descriptors

KwdEn :
- Ataxia, Atrophy, Choreoathetosis, Inclusion, Nervous system diseases, Sporadic.

Abstract

A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.

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 21`
A06				`@2 12`
A08	`01`	`1`	`ENG`	`@1 Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion`
A11	`01`	`1`		`@1 ESPAY (Alberto J.)`
A11	`02`	`1`		`@1 BERGERON (Catherine)`
A11	`03`	`1`		`@1 CHEN (Robert)`
A11	`04`	`1`		`@1 LANG (Anthony E.)`
A14	`01`			`@1 Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto @2 Toronto, Ontario @3 CAN @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.`
A14	`02`			`@1 The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati @2 Cincinnati, Ohio @3 USA @Z 1 aut.`
A14	`03`			`@1 Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network @2 Toronto, Ontario @3 CAN @Z 2 aut.`
A20				`@1 2251-2254`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145356790430`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 16 ref.`
A47	`01`	`1`		`@0 07-0090893`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @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 Atrophie @5 02`
C03	`02`	`X`	`ENG`	`@0 Atrophy @5 02`
C03	`02`	`X`	`SPA`	`@0 Atrofia @5 02`
C03	`03`	`X`	`FRE`	`@0 Ataxie @5 03`
C03	`03`	`X`	`ENG`	`@0 Ataxia @5 03`
C03	`03`	`X`	`SPA`	`@0 Ataxia @5 03`
C03	`04`	`X`	`FRE`	`@0 Choréoathétose @5 04`
C03	`04`	`X`	`ENG`	`@0 Choreoathetosis @5 04`
C03	`04`	`X`	`SPA`	`@0 Coreoatetosis @5 04`
C03	`05`	`X`	`FRE`	`@0 Sporadique @5 09`
C03	`05`	`X`	`ENG`	`@0 Sporadic @5 09`
C03	`05`	`X`	`SPA`	`@0 Esporádico @5 09`
C03	`06`	`X`	`FRE`	`@0 Inclusion @5 10`
C03	`06`	`X`	`ENG`	`@0 Inclusion @5 10`
C03	`06`	`X`	`SPA`	`@0 Inclusión @5 10`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @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 Système nerveux central pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`03`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`04`	`X`	`FRE`	`@0 Mouvement involontaire @5 40`
C07	`04`	`X`	`ENG`	`@0 Involuntary movement @5 40`
C07	`04`	`X`	`SPA`	`@0 Movimiento involuntario @5 40`
N21				`@1 057`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0090893 INIST
ET :	Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
AU :	ESPAY (Alberto J.); BERGERON (Catherine); CHEN (Robert); LANG (Anthony E.)
AF :	Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto/Toronto, Ontario/Canada (1 aut., 2 aut., 3 aut., 4 aut.); The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati/Cincinnati, Ohio/Etats-Unis (1 aut.); Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network/Toronto, Ontario/Canada (2 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 12; Pp. 2251-2254; Bibl. 16 ref.
LA :	Anglais
EA :	A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Atrophie; Ataxie; Choréoathétose; Sporadique; Inclusion
FG :	Encéphale pathologie; Système nerveux central pathologie; Trouble neurologique; Mouvement involontaire
ED :	Nervous system diseases; Atrophy; Ataxia; Choreoathetosis; Sporadic; Inclusion
EG :	Cerebral disorder; Central nervous system disease; Neurological disorder; Involuntary movement
SD :	Sistema nervioso patología; Atrofia; Ataxia; Coreoatetosis; Esporádico; Inclusión
LO :	INIST-20953.354000145356790430
ID :	07-0090893

Links to Exploration step

Pascal:07-0090893

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion</title>
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<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
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<author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name>
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<author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<term>Inclusion</term>
<term>Nervous system diseases</term>
<term>Sporadic</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Atrophie</term>
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<front><div type="abstract" xml:lang="en">A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.</div>
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<fA11 i1="01" i2="1"><s1>ESPAY (Alberto J.)</s1>
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<fA11 i1="04" i2="1"><s1>LANG (Anthony E.)</s1>
</fA11>
<fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
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</fC02>
<fC02 i1="03" i2="X"><s0>002B17H</s0>
</fC02>
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<s5>01</s5>
</fC03>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
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<s5>02</s5>
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<s5>02</s5>
</fC03>
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<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Ataxie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Ataxia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Ataxia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Choréoathétose</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Choreoathetosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Coreoatetosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Sporadique</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Sporadic</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Esporádico</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Inclusion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Inclusion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Inclusión</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
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<s5>37</s5>
</fC07>
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<s5>37</s5>
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<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
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</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
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<fC07 i1="04" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fN21><s1>057</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 07-0090893 INIST</NO>
<ET>Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion</ET>
<AU>ESPAY (Alberto J.); BERGERON (Catherine); CHEN (Robert); LANG (Anthony E.)</AU>
<AF>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto/Toronto, Ontario/Canada (1 aut., 2 aut., 3 aut., 4 aut.); The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati/Cincinnati, Ohio/Etats-Unis (1 aut.); Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network/Toronto, Ontario/Canada (2 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 12; Pp. 2251-2254; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Atrophie; Ataxie; Choréoathétose; Sporadique; Inclusion</FD>
<FG>Encéphale pathologie; Système nerveux central pathologie; Trouble neurologique; Mouvement involontaire</FG>
<ED>Nervous system diseases; Atrophy; Ataxia; Choreoathetosis; Sporadic; Inclusion</ED>
<EG>Cerebral disorder; Central nervous system disease; Neurological disorder; Involuntary movement</EG>
<SD>Sistema nervioso patología; Atrofia; Ataxia; Coreoatetosis; Esporádico; Inclusión</SD>
<LO>INIST-20953.354000145356790430</LO>
<ID>07-0090893</ID>
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</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

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