MovDisordV3, PascalFrancis, Curation, bibRecord, 001526

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Identifieur interne : 001526 ( PascalFrancis/Curation ); précédent : 001525; suivant : 001527

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Auteurs : Steven A. Gunzler [États-Unis] ; A. Jon Stoessl [Canada] ; Robert A. Egan [États-Unis] ; Richard G. Weleber [États-Unis] ; Paul Wang [États-Unis] ; John G. Nutt [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0133257

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Joubert syndrome, Ataxie, Parkinsonisme, Extrapyramidal syndrome, Apraxie, Tomoscintigraphie, Positon, Tomographie émission positon.

English descriptors

KwdEn :
- Apraxia, Ataxia, Emission tomography, Extrapyramidal syndrome, Joubert syndrome, Nervous system diseases, Parkinsonism, Positron, Positron emission tomography.

Abstract

A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 2`
A08	`01`	`1`	`ENG`	`@1 Joubert syndrome surviving to adulthood associated with a progressive movement disorder`
A11	`01`	`1`		`@1 GUNZLER (Steven A.)`
A11	`02`	`1`		`@1 STOESSL (A. Jon)`
A11	`03`	`1`		`@1 EGAN (Robert A.)`
A11	`04`	`1`		`@1 WELEBER (Richard G.)`
A11	`05`	`1`		`@1 WANG (Paul)`
A11	`06`	`1`		`@1 NUTT (John G.)`
A14	`01`			`@1 Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center @2 Portland, Oregon @3 USA @Z 1 aut. @Z 6 aut.`
A14	`02`			`@1 Parkinson Center of Oregon, Oregon Health & Science University @2 Portland, Oregon @3 USA @Z 1 aut. @Z 6 aut.`
A14	`03`			`@1 Pacific Parkinson's Research Centre, University of British Columbia @2 Vancouver, British Columbia @3 CAN @Z 2 aut.`
A14	`04`			`@1 Casey Eye Institute, Oregon Health & Science University @2 Portland, Oregon @3 USA @Z 3 aut. @Z 4 aut.`
A14	`05`			`@1 Department of Diagnostic Radiology, Oregon Health & Science University @2 Portland, Oregon @3 USA @Z 5 aut.`
A20				`@1 262-265`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145528070220`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 15 ref.`
A47	`01`	`1`		`@0 07-0133257`
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C01	`01`		`ENG`	@0 A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17D`
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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 Joubert syndrome @5 02`
C03	`02`	`X`	`ENG`	`@0 Joubert syndrome @5 02`
C03	`02`	`X`	`SPA`	`@0 Joubert síndrome @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 Parkinsonisme @2 NM @5 04`
C03	`04`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 04`
C03	`04`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 04`
C03	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 05`
C03	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 05`
C03	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 05`
C03	`06`	`X`	`FRE`	`@0 Apraxie @5 06`
C03	`06`	`X`	`ENG`	`@0 Apraxia @5 06`
C03	`06`	`X`	`SPA`	`@0 Apraxia @5 06`
C03	`07`	`X`	`FRE`	`@0 Tomoscintigraphie @5 09`
C03	`07`	`X`	`ENG`	`@0 Emission tomography @5 09`
C03	`07`	`X`	`SPA`	`@0 Tomocentelleografía @5 09`
C03	`08`	`X`	`FRE`	`@0 Positon @5 10`
C03	`08`	`X`	`ENG`	`@0 Positron @5 10`
C03	`08`	`X`	`SPA`	`@0 Positrón @5 10`
C03	`09`	`X`	`FRE`	`@0 Tomographie émission positon @5 11`
C03	`09`	`X`	`ENG`	`@0 Positron emission tomography @5 11`
C03	`09`	`X`	`SPA`	`@0 Tomografía emisión positrones @5 11`
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 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 Malformation @5 39`
C07	`03`	`X`	`ENG`	`@0 Malformation @5 39`
C07	`03`	`X`	`SPA`	`@0 Malformación @5 39`
C07	`04`	`X`	`FRE`	`@0 Système nerveux central pathologie @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 41`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
N21				`@1 085`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Joubert syndrome surviving to adulthood associated with a progressive movement disorder</title>
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<author><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G." last="Weleber">Richard G. Weleber</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Apraxia</term>
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<term>Joubert syndrome</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
<term>Positron</term>
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</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.</div>
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<fC01 i1="01" l="ENG"><s0>A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.</s0>
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<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Apraxie</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Apraxia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Apraxia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Tomoscintigraphie</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Emission tomography</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Tomocentelleografía</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Positon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Positron</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Positrón</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Tomographie émission positon</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Positron emission tomography</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Tomografía emisión positrones</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</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>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>Malformation</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Malformation</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Malformación</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</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>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>
<fN21><s1>085</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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   |texte=   Joubert syndrome surviving to adulthood associated with a progressive movement disorder
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	Movement Disorders (revue)
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Movement Disorders (revue)

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

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English descriptors

Abstract

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