MovDisordV3, Main, Merge, bibRecord, 004214

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Identifieur interne : 004214 ( Main/Merge ); précédent : 004213; suivant : 004215

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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Pascal:07-0133257

Le document en format XML

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<author><name sortKey="Gunzler, Steven A" sort="Gunzler, Steven A" uniqKey="Gunzler S" first="Steven A." last="Gunzler">Steven A. Gunzler</name>
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<s2>Portland, Oregon</s2>
<s3>USA</s3>
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<country>États-Unis</country>
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<author><name sortKey="Egan, Robert A" sort="Egan, Robert A" uniqKey="Egan R" first="Robert A." last="Egan">Robert A. Egan</name>
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<author><name sortKey="Wang, Paul" sort="Wang, Paul" uniqKey="Wang P" first="Paul" last="Wang">Paul Wang</name>
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<author><name sortKey="Egan, Robert A" sort="Egan, Robert A" uniqKey="Egan R" first="Robert A." last="Egan">Robert A. Egan</name>
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<term>Joubert syndrome</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
<term>Positron</term>
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<term>Joubert syndrome</term>
<term>Ataxie</term>
<term>Parkinsonisme</term>
<term>Extrapyramidal syndrome</term>
<term>Apraxie</term>
<term>Tomoscintigraphie</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>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
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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

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