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Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Author(s) -
Gunzler Steven A.,
Stoessl A. Jon,
Egan Robert A.,
Weleber Richard G.,
Wang Paul,
Nutt John G.
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21263
Subject(s) - joubert syndrome , apraxia , ataxia , ataxic gait , psychology , gait ataxia , movement disorders , magnetic resonance imaging , medicine , audiology , physical medicine and rehabilitation , pediatrics , neuroscience , pathology , aphasia , radiology , disease , biology , cilium , microbiology and biotechnology
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