Brief Report

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

  1. Steven A. Gunzler MD1,2,*,
  2. A. Jon Stoessl MD3,
  3. Robert A. Egan MD4,
  4. Richard G. Weleber MD4,
  5. Paul Wang MD5,
  6. John G. Nutt MD1,2

Article first published online: 5 DEC 2006

DOI: 10.1002/mds.21263

Issue

Movement Disorders

Movement Disorders

Volume 22, Issue 2, pages 262–264, 15 January 2007

Additional Information

How to Cite

Gunzler, S. A., Stoessl, A. J., Egan, R. A., Weleber, R. G., Wang, P. and Nutt, J. G. (2007), Joubert syndrome surviving to adulthood associated with a progressive movement disorder. Mov. Disord., 22: 262–264. doi: 10.1002/mds.21263

Author Information

  1. 1

    Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA

  2. 2

    Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA

  3. 3

    Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada

  4. 4

    Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA

  5. 5

    Department of Diagnostic Radiology, Oregon Health & Science University, Portland, Oregon, USA

*Oregon Health & Science University, Mail Code OP32, 3181 SW Sam Jackson Park Road, Portland, OR 97239

Publication History

  1. Issue published online: 29 JAN 2007
  2. Article first published online: 5 DEC 2006
  3. Manuscript Accepted: 18 AUG 2006
  4. Manuscript Revised: 9 AUG 2006
  5. Manuscript Received: 26 JAN 2006

Funded by

  • Parkinson Disease Research, Education, and Clinical Center (PADRECC)
  • Portland VA Medical Center

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Keywords:

  • Joubert syndrome;
  • ataxia;
  • Parkinsonism;
  • extrapyramidal;
  • fluorodopa PET;
  • oculomotor apraxia

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

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