MovDisordV3, PubMed, Corpus, bibRecord, 002941

Joubert syndrome surviving to adulthood associated with a progressive movement disorder.

Identifieur interne : 002941 ( PubMed/Corpus ); précédent : 002940; suivant : 002942

Joubert syndrome surviving to adulthood associated with a progressive movement disorder.

Auteurs : Steven A. Gunzler ; A Jon Stoessl ; Robert A. Egan ; Richard G. Weleber ; Paul Wang ; John G. Nutt

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17149728

English descriptors

KwdEn :
- Age Factors, Ataxia (complications), Ataxia (diagnosis), Ataxia (physiopathology), Cerebellum (abnormalities), Cognition Disorders (complications), Cognition Disorders (diagnosis), Disease Progression, Extrapyramidal Tracts (physiopathology), Facies, Humans, Hypokinesia (complications), Hypokinesia (diagnosis), Hypokinesia (physiopathology), Magnetic Resonance Imaging, Male, Middle Aged, Nystagmus, Pathologic (complications), Nystagmus, Pathologic (physiopathology), Oculomotor Nerve Diseases (complications), Severity of Illness Index, Speech Disorders (complications), Syndrome.
MESH :
- abnormalities : Cerebellum.
- complications : Ataxia, Cognition Disorders, Hypokinesia, Nystagmus, Pathologic, Oculomotor Nerve Diseases, Speech Disorders.
- diagnosis : Ataxia, Cognition Disorders, Hypokinesia.
- physiopathology : Ataxia, Extrapyramidal Tracts, Hypokinesia, Nystagmus, Pathologic.
- Age Factors, Disease Progression, Facies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index, Syndrome.

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.

DOI: 10.1002/mds.21263
PubMed: 17149728

Links to Exploration step

pubmed:17149728

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>
<affiliation><nlm:affiliation>Parkinson's Disease Research, Education, and Clinical Center, Portland VA Medical Center, Portland, Oregon, USA. gunzlers@ohsu.edu</nlm:affiliation>
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<author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</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>
</author>
<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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<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="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G" last="Nutt">John G. Nutt</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>Ataxia (complications)</term>
<term>Ataxia (diagnosis)</term>
<term>Ataxia (physiopathology)</term>
<term>Cerebellum (abnormalities)</term>
<term>Cognition Disorders (complications)</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Disease Progression</term>
<term>Extrapyramidal Tracts (physiopathology)</term>
<term>Facies</term>
<term>Humans</term>
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<term>Hypokinesia (diagnosis)</term>
<term>Hypokinesia (physiopathology)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nystagmus, Pathologic (complications)</term>
<term>Nystagmus, Pathologic (physiopathology)</term>
<term>Oculomotor Nerve Diseases (complications)</term>
<term>Severity of Illness Index</term>
<term>Speech Disorders (complications)</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Cerebellum</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term>
<term>Cognition Disorders</term>
<term>Hypokinesia</term>
<term>Nystagmus, Pathologic</term>
<term>Oculomotor Nerve Diseases</term>
<term>Speech Disorders</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term>
<term>Extrapyramidal Tracts</term>
<term>Hypokinesia</term>
<term>Nystagmus, Pathologic</term>
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<keywords scheme="MESH" xml:lang="en"><term>Age Factors</term>
<term>Disease Progression</term>
<term>Facies</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</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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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Joubert syndrome surviving to adulthood associated with a progressive movement disorder.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation>
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<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
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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 :

English descriptors

Abstract

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

Pour générer des pages wiki