Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Identifieur interne : 003D05 ( Main/Merge ); précédent : 003D04; suivant : 003D06Joubert 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 ] ; 2007-01-15.
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), Joubert syndrome, Magnetic Resonance Imaging, Male, Middle Aged, Nystagmus, Pathologic (complications), Nystagmus, Pathologic (physiopathology), Oculomotor Nerve Diseases (complications), Parkinsonism, Severity of Illness Index, Speech Disorders (complications), Syndrome, ataxia, extrapyramidal, fluorodopa PET, oculomotor apraxia.
- 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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21263
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<term>Cerebellum (abnormalities)</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. © 2006 Movement Disorder Society</div>
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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. © 2006 Movement Disorder Society</div>
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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 wicri:level="2"><nlm:affiliation>Parkinson's Disease Research, Education, and Clinical Center, Portland VA Medical Center, Portland, Oregon, USA. gunzlers@ohsu.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's Disease Research, Education, and Clinical Center, Portland VA Medical Center, Portland, Oregon</wicri:regionArea>
<placeName><region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name>
</author>
<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>
</author>
<author><name sortKey="Wang, Paul" sort="Wang, Paul" uniqKey="Wang P" first="Paul" last="Wang">Paul Wang</name>
</author>
<author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G" last="Nutt">John G. Nutt</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term>
<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>
<term>Hypokinesia (complications)</term>
<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>
</keywords>
<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>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia</term>
<term>Cognition Disorders</term>
<term>Hypokinesia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term>
<term>Extrapyramidal Tracts</term>
<term>Hypokinesia</term>
<term>Nystagmus, Pathologic</term>
</keywords>
<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>
<term>Middle Aged</term>
<term>Severity of Illness Index</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</PubMed>
</double>
</record>
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