Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Steven A. Gunzler, A. Jon Stoess, Robert A. Egan, Richard Weleber, Paul Wang, John Nutt

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)262-265
Number of pages4
JournalMovement Disorders
Volume22
Issue number2
DOIs
StatePublished - Jan 15 2007

Fingerprint

Apraxias
Movement Disorders
Ataxia
Neurologic Gait Disorders
Raclopride
Cerebral Palsy
Nervous System Diseases
Gait
Positron-Emission Tomography
Physical Examination
Dopamine
Magnetic Resonance Imaging
Joubert syndrome 1
fluorodopa F 18
Cognitive Dysfunction

Keywords

  • Ataxia
  • Extrapyramidal
  • Fluorodopa PET
  • Joubert syndrome
  • Oculomotor apraxia
  • Parkinsonism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Joubert syndrome surviving to adulthood associated with a progressive movement disorder. / Gunzler, Steven A.; Stoess, A. Jon; Egan, Robert A.; Weleber, Richard; Wang, Paul; Nutt, John.

In: Movement Disorders, Vol. 22, No. 2, 15.01.2007, p. 262-265.

Research output: Contribution to journalArticle

Gunzler, Steven A. ; Stoess, A. Jon ; Egan, Robert A. ; Weleber, Richard ; Wang, Paul ; Nutt, John. / Joubert syndrome surviving to adulthood associated with a progressive movement disorder. In: Movement Disorders. 2007 ; Vol. 22, No. 2. pp. 262-265.
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