Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Identifieur interne : 002567 ( Main/Exploration ); précédent : 002566; suivant : 002568Joubert 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
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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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></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Oregon</li></region><settlement><li>Portland</li></settlement><orgName><li>Université des sciences et de la médecine de l'Oregon</li></orgName></list><tree><country name="États-Unis"><region name="Oregon"><name sortKey="Gunzler, Steven A" sort="Gunzler, Steven A" uniqKey="Gunzler S" first="Steven A." last="Gunzler">Steven A. Gunzler</name></region><name sortKey="Egan, Robert A" sort="Egan, Robert A" uniqKey="Egan R" first="Robert A." last="Egan">Robert A. Egan</name><name sortKey="Gunzler, Steven A" sort="Gunzler, Steven A" uniqKey="Gunzler S" first="Steven A." last="Gunzler">Steven A. 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