Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Identifieur interne : 002D83 ( Main/Exploration ); précédent : 002D82; suivant : 002D84Joubert 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Age Factors, Apraxia, Ataxia, Ataxia (complications), Ataxia (diagnosis), Ataxia (physiopathology), Cerebellum (abnormalities), Cognition Disorders (complications), Cognition Disorders (diagnosis), Disease Progression, Emission tomography, Extrapyramidal Tracts (physiopathology), Extrapyramidal syndrome, Facies, Humans, Hypokinesia (complications), Hypokinesia (diagnosis), Hypokinesia (physiopathology), Joubert syndrome, Magnetic Resonance Imaging, Male, Middle Aged, Nervous system diseases, Nystagmus, Pathologic (complications), Nystagmus, Pathologic (physiopathology), Oculomotor Nerve Diseases (complications), Parkinsonism, Positron, Positron emission tomography, 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
Affiliations:
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Le document en format XML
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<term>Ataxia (diagnosis)</term>
<term>Ataxia (physiopathology)</term>
<term>Cerebellum (abnormalities)</term>
<term>Cognition Disorders (complications)</term>
<term>Cognition Disorders (diagnosis)</term>
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<term>Emission tomography</term>
<term>Extrapyramidal Tracts (physiopathology)</term>
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<term>Hypokinesia (physiopathology)</term>
<term>Joubert syndrome</term>
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<term>Nystagmus, Pathologic (physiopathology)</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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